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* Home
* About SMS
* What Is SMS?
* Living with SMS
* SMS Clinics
* A Community That Cares
* Early Intervention
* Behavior
* Speech & Language
* Sleep
* Medical Management & Treatment
* Medication
* Guardianship & Financial Planning
* FAQ
* Education
* SMS Conference
* Conference Registration
* Conference FAQ
* Conference Fundraiser
* Conference Costs
* Webinars
* For the Parent/Caregiver
* For the Health Professional
* For the Educator
* For the Sibling
* For the Individual with SMS
* Publications & Resources
* Awareness
* Awareness Toolbox
* PRISMS Store
* SMS Awareness Day
* PRISMS Blog
* Share Your Story
* Advocacy Partners
* Rare Disease Day
* Research
* Research at PRISMS
* 2024 SMS Research Symposium
* SMS Patient Registry
* Active Research
* Postdoctoral Fellowship
* Brain Donor Project
* Research Publications
* Get Involved
* Donate
* Employer Match
* Join our Community
* Fundraising
* 17p11.2 Society
* Volunteering
* Regional Representatives
* Who We Are
* The Mission
* The Team
* The Work
* The History
* Contact Us
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* Home
* About SMS
* What Is SMS?
* Living with SMS
* SMS Clinics
* A Community That Cares
* Early Intervention
* Behavior
* Speech & Language
* Sleep
* Medical Management & Treatment
* Medication
* Guardianship & Financial Planning
* FAQ
* Education
* SMS Conference
* Conference Registration
* Conference FAQ
* Conference Fundraiser
* Conference Costs
* Webinars
* For the Parent/Caregiver
* For the Health Professional
* For the Educator
* For the Sibling
* For the Individual with SMS
* Publications & Resources
* Awareness
* Awareness Toolbox
* PRISMS Store
* SMS Awareness Day
* PRISMS Blog
* Share Your Story
* Advocacy Partners
* Rare Disease Day
* Research
* Research at PRISMS
* 2024 SMS Research Symposium
* SMS Patient Registry
* Active Research
* Postdoctoral Fellowship
* Brain Donor Project
* Research Publications
* Get Involved
* Donate
* Employer Match
* Join our Community
* Fundraising
* 17p11.2 Society
* Volunteering
* Regional Representatives
* Who We Are
* The Mission
* The Team
* The Work
* The History
* Contact Us
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972.231.0035
* WHAT IS SMS?
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* JOIN OUR COMMUNITY
Free Sign Up
* NEWLY DIAGNOSED?
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* Home
* About SMS
* What Is SMS?
* Living with SMS
* SMS Clinics
* A Community That Cares
* Early Intervention
* Behavior
* Speech & Language
* Sleep
* Medical Management & Treatment
* Medication
* Guardianship & Financial Planning
* FAQ
* Education
* SMS Conference
* Conference Registration
* Conference FAQ
* Conference Fundraiser
* Conference Costs
* Webinars
* For the Parent/Caregiver
* For the Health Professional
* For the Educator
* For the Sibling
* For the Individual with SMS
* Publications & Resources
* Awareness
* Awareness Toolbox
* PRISMS Store
* SMS Awareness Day
* PRISMS Blog
* Share Your Story
* Advocacy Partners
* Rare Disease Day
* Research
* Research at PRISMS
* 2024 SMS Research Symposium
* SMS Patient Registry
* Active Research
* Postdoctoral Fellowship
* Brain Donor Project
* Research Publications
* Get Involved
* Donate
* Employer Match
* Join our Community
* Fundraising
* 17p11.2 Society
* Volunteering
* Regional Representatives
* Who We Are
* The Mission
* The Team
* The Work
* The History
* Contact Us
PRISMS IS DEDICATED TO PROVIDING INFORMATION AND SUPPORT TO FAMILIES OF PERSONS
WITH SMITH-MAGENIS SYNDROME (SMS), SPONSORING RESEARCH AND FOSTERING
PARTNERSHIPS WITH PROFESSIONALS TO INCREASE AWARENESS AND UNDERSTANDING OF SMS.
EDUCATION
Newly Diagnosed? See What You Should Know
* What is SMS?
* Living with SMS
* For the Parent/Caregiver
* For the Healthcare Professional
* For the Educator
* For the Sibling
* For the Individual with SMS
* International SMS Conference
* Publications and Resources
AWARENESS
* International Partnership Program
* SMS Awareness Day
* Awareness Toolbox
* PRISMS Blog
* Share Your Story
RESEARCH
* SMS Research Symposium
* SMS Patient Registry
* SMS Clinics
* Active Research
* Research Publications
NEWLY DIAGNOSED?
Are you associated with someone who has been newly diagnosed with Smith-Magenis
Syndrome?
What You Should Know
BECOME PART OF THE PRISMS COMMUNITY
Sign up to get the latest information and resources from PRISMS and the
Smith-Magenis Syndrome community.
Sign-up with Us
CONNECT WITH OTHER LOCAL FAMILIES
Connect with your local Regional Representative to help connect you with other
SMS families in your area.
Get Connected
You are embarking on a difficult journey, but one that is rewarding.
You will grieve when your child struggles, but you will revel in their
accomplishments.
WHAT IS SMS?
Smith-Magenis syndrome (SMS) is a rare neurobehavioral disorder characterized by
a recognizable pattern of physical, behavioral, and developmental features. It
is caused by particular genetic changes on chromosomal region 17p11.2, which
contains the gene RAI1. MORE >
WHAT TREATMENT IS AVAILABLE?
There are no medications that can “cure” SMS or eliminate the core symptoms.
However, there are medications that can help some people with SMS function
better. For example, medication might help manage high energy levels, inability
to focus, or seizures. MORE >
HOW RARE IS SMS?
Although the exact incidence is not known, it is estimated that SMS occurs in
about 1/15,000 to 1/25,000 births. SMS is under-diagnosed, but as awareness of
the syndrome increases, the number of people identified grows each year. MORE >
HOW IS SMS DIAGNOSED?
The diagnosis of Smith-Magenis Syndrome (SMS) is usually confirmed through a
clinical blood test called a chromosome analysis. Diagnosis can also be made
through a cytogenetic test and FISH (fluorescence in situ hybridization) or by
chromosome microarray analysis (CGH). MORE >
PLEASE DONATE
Our continued efforts depend on donations and gifts from people like you. Won’t
you help?
Donate Now
Learn More
RECENT SMS NEWS
* PRISMS Releases 2023 Annual Report
The new 2023 PRISMS Annual Report has just been released. The annual report
highlights all the hard work and achievements that have been accomplished in
the past year. At PRISMS, we are committed to complete…
See More >
* PRISMS Releases New “Strategies to Address Emotional and Behavioral
Challenges in Smith-Magenis Syndrome” Guidebook
PRISMS is pleased to announce another online publication in its series of
family-friendly treatment recommendations. This series is designed to provide
essential information to parents, caretakers, and other professionals who may
be providing services to…
See More >
PRISMS, Parents and Researchers Interested In Smith-Magenis Syndrome, is
dedicated to providing information and support to families of persons with
Smith-Magenis Syndrome (SMS), sponsoring research and fostering partnerships
with professionals to increase awareness and understanding of SMS.
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CONTACT US
Many photos throughout the PRISMS website are courtesy of Rick Giudotti,
Positive Exposure.
PRISMS, Inc | 205 Van Buren Street | Suite 120 #1027 | Herndon, VA
20170 | Phone: 972.231.0035
EIN: 54-1652029
©2024 PRISMS, Inc • All Rights Reserved
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MARIA FEAGIN
IDAHO
Hello, my name is Maria Feagin and this my son Hunter. We were very lucky to
have received Hunter’s SMS diagnosis when he was 9 weeks old. Finding out that
your child has a genetic disorder that will impact every aspect of his life, is
very heartbreaking to begin with. So many uncertainties, unknowns, fears and
mainly grief. Connecting with Prisms really gave us a perspective and the warm
welcome and support by this community and connecting with other parents allowed
us to learn and embrace this new path. Hunter is so full of love and loves
hugging everyone in his path, he is so loved by everyone he meets. We are so
lucky to be part of this journey. We can wait to provide the same love and
support to other families. – Maria & Hunter
Connect with Maria
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AMY MYERS
GEORGIA
My name is Amy Myers. Our daughter, Mariah, was born in 1994 with a heart
defect called Tetralogy of Fallot. She was 7 when she was diagnosed with SMS.
Having that diagnosis allowed us to finally put the puzzle pieces together. We
have been part of PRISMS since her diagnosis, participating in research studies,
attending conferences, and finding tremendous support within the community.
I look forward to serving as a regional representative for PRISMS. I hope to be
a source of education and support for you as travel this SMS journey.
Connect with Amy
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KARA BALE
HAWAII
Aloha!
My name is Kara and I am honored to serve as the PRISMS Regional Representative
for Hawaii. PRISMS is a fantastic organization for providing support as well as
education and awareness about Smith-Magenis Syndrome.
My husband and I are the proud parents of two sons. Riley was born in 2011 and
is our child with Smith-Magenis Syndrome. Liam joined the fun four years later.
As the first known case of SMS on the island of Oahu, our journey has been full
of learning experiences. We have gained so much knowledge on the path through
early intervention, the education system, medical care and therapeutic support
options. As an educator myself, I now have experience on both sides of the IEP
table. It would be my pleasure to share what we have learned and to offer
support for navigating this journey. I look forward to connecting with you.
Connect with Kara
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NOÉMIE GREBLER
ISRAEL
Noémie Grebler, Regional Representative for Israel
My name is Noémie. I am a French Israeli living in the center of Israel.
Our son, Mael, was diagnosed at 1 year and is 1.5 years now. It was helpful for
me to understand there’s a community such as the PRISMS one, and I wish that
families of Israel and the middle east could be able to connect as well, share
experiences and grow together.
If you wish to be part of a community of already more than 10 families in
Israel, do not hesitate to contact me!
Connect with Noémie
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ALLISON STEPHANOUK
EDUCATION COMMITTEE
Allison began her work with PRISMS in 2017 when she joined the Conference
Planning Committee and became a member of the Board of Directors in 2019. During
her time with PRISMS, she has served on the Conference Planning Committee, the
Education Committee and as a Regional Representative for the state of Georgia.
Allison also designed and produced PRISMS first webinar program, with the goal
of sharing critical information about Smith-Magenis Syndrome, in an easily
accessible format.
Allison is a Web Developer for Michael Mackenzie Communications. She holds a
Bachelor of Arts in Mass Communication from Louisiana State University and a
Masters of Science in Computer Information Systems from Georgia State
University.
Allison lives in Roswell, GA, with her husband Alex. In her free time, she
enjoys spending time with her husband and three children, playing tennis and
water sports. Her youngest daughter, Natalie, was diagnosed with SMS shortly
after birth.
Connect with Allison
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ILSE CIPRICH
NEW JERSEY
My name is Ilse Ciprich, and I am the regional representative in NJ. My son
Christopher was diagnosed at 5-6 months old and is now 23 years old (2024). We
have been members of PRISMS since 2002. Before finding PRISM we were really lost
on how to help our son and we felt so alone. It has been a Blessing to learn
more about Smith-Magenis Syndrome and to meet other families that have gone
through similar situations with dealing with our child and with SMS. I would
like to think that having a child with SMS has made me a better person. I am not
judgmental when I see a child misbehave. I now have understanding and
compassion. I know how difficult it is to deal with the ups and downs of
handling SMS and the school systems. I’m here and a good listener if you wish to
contact me. Thank you. It is a Pleasure to be of assistance.
Connect with Ilse
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SASHA PIASTRO-TEDFORD
PENNSYLVANIA
My name is Sasha Piastro-Tedford and I am one of the PRISMS Regional
Representatives for Pennsylvania. My husband and I live in western PA with our
SMS-er, Jonah, his two younger sisters and our goldendoodle. We found out about
PRISMS after our son was diagnosed with SMS in 2020 at the age of nine. Jonah’s
doctors immediately referred us to the PRISMS website and we were amazed by the
wealth of information and resources available. We have greatly appreciated
having a such a valuable resource to turn to at each stage of our SMS journey.
Jonah’s initial diagnosis was overwhelming, and we have definitely felt isolated
and discouraged. Parenting Jonah has been both a challenge and a blessing. He
has brought such joy to our lives, showing us what true and uninhibited
friendliness looks like, and teaching us to slow down and notice the small
wonders in the world. I’m excited to be a Regional Representative because I want
to connect with other SMS families and build this community, while also
spreading awareness of this rare syndrome. Please feel free to reach out to me
with any questions and concerns. I’m happy to listen and support you in any way
that I can!
Connect with Sasha
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RANDI TANENBAUM
NY, NJ
My name is Randi Tanenbaum from Manalapan, NJ. I am one of the Regional
Representatives for New York and New Jersey. Our daughter Marnie, was born in
2016 and was diagnosed with SMS at 4 years of age. There are so many reasons why
I feel compelled to represent PRISMS- when my family and I received our
diagnosis the ONLY resource we had was PRISMS. The content from the site and
the people we have spoken to has been invaluable. Without PRISMS we would be
lost. This is a community of people who truly care about their families and I
want to do the same locally.
Connect with Randi
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JEAN BISHOP
KY, TN
My name is Jean Marie. I live in Louisville, KY. I am a single mother of an
amazing SMSer, Nico. Nico was born in 2007 and diagnosed with SMS in 2008. I
immediately joined PRISMS, Inc. to connect and for the support of other families
that understand life with SMS. I work part time in administration for a
residential provider for disabled adults and part time in a pediatric oncology
inpatient unit as Registered Nurse. Annually, my family and I host a PRISMS
fundraiser with the dream that PRISMS, Inc. will be able to offer even more
support to SMS families in the future!
Connect with Jean
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NATASHA SCHALLER
IA, KS
My name is Natasha Schaller and I live in Winterset, IA, with my husband, Eric
Schaller, and our three children, Reese, Charlotte & Levi. Our son, Levi, was
born in 2018 and diagnosed with Smith-Magenis Syndrome at 10 months old. Shortly
after Levi’s diagnosis we found the PRISMS website and connected with our
Regional Representative. We were so comforted in those early days having someone
to reach out and talk to, exchange emails with and ask questions. My hope in
becoming a Regional Representative is to support newly diagnosed families, and
build strong connections with currently diagnosed families.
After attending our first conference in 2022 and seeing the sense of community,
the joy of connection and what we can all learn when we come together inspired
me to be more involved in my local SMS community. I’m looking forward to serving
this area and I hope you’ll reach out with any questions, or even just to chat.
Connect with Natasha
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BARBARA WATSON
PENNSYLVANIA
My name is Barbara Watson, and my husband and I have three children. We live in
Latrobe, which is in southwestern PA. Our youngest, James (22 years old in
2024), was misdiagnosed throughout his childhood as having ADHD and autism. At
19 he was finally sent for genetic testing and we learned he had the mutation
form of SMS. What a difference it would have made for James and our family if we
had had a community of people like Prisms to offer advice and encouragement! I
have learned a lot about accessing supports in our area, and about education:
what worked and what did not for James. I am happy to share this experience or
just chat about life with this challenging diagnosis.
Connect with Barbara
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AMANDA COLLINS
ALASKA
My name is Amanda Collins and I live in Anchorage, AK with my daughter Ansley
(12) and her brother Holder (23). My daughter was diagnosed with SMS February
16, 2023. Before that, she had run under the diagnosis of “globally complicated,
doesn’t fall under one umbrella”. With two previously failed genetic testings,
we had started to think that maybe there was nobody else like us; that maybe we
were all alone. Then our child’s Developmental-Behavioral Specialist told us
that genetic testing had been expanded and insurance would now cover it. I
immediately jumped on it. This began our new journey into the “Wonderful World
of SMS!”
Upon getting the diagnosis we found ourselves being guided on all sides towards
PRISMS. Immediately I knew we had found our home; our people. I knew that from
this point forward we were not alone and never had been.
Now, a year later, I am excited to be joining this group as one of the Regional
Representatives for the state of Alaska. Our journey has been a tough one, but
we have learned so much! I hope to bring this same knowledge to the table and
offer compassion, insight, love and guidance to those families experiencing the
same or similar things. Afterall, We are all on this journey together.
Connect with Amanda
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LORI MARTIN
ALASKA AND OREGON
My name is Lori and I live in Clackamas Oregon, right outside of Portland
Oregon. I’ve been married to Matt for 29 years. We have 6 children: Tony (31),
Eric (29), Taylor (27 SMS), Brandon (25), Nick (23), and Callista (19). Taylor
was born in June 1996 and was diagnosed at Children’s Mercy Hospital in Kansas
City Missouri in April 1997. My husband and children are Alaskan Native and are
members of the Tlingit tribe. We all enjoy traveling and seeing new things!
Taylor LOVES all things Paw Patrol and her 4 brothers! When dad and brothers are
around, mom doesn’t exist. I’m happy to be a part of the regional rep program
for PRISMS. Being diagnosed before the internet was a thing was scary, but now
with the internet readily available, information overload can also be scary. I’m
happy to be able to help families navigate the SMS waters.
Connect with Lori
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LAURA RUSSELL
WASHINGTON D. C., MARYLAND
My name is Laura Russell, and I live in Maryland. My son, Adam, who was born in
1990, was initially diagnosed with autism and ADHD. In July 2021, further
testing confirmed a genetic deletion associated with Smith-Magenis Syndrome.
While a diagnosis is just a word, the PRISMS organization added depth and
meaning to the diagnosis, offering me a better understanding. By exploring the
PRISMS website, I was able to find clarity amidst the chaos I had experienced.
Through PRISMS, I discovered resources that validated my knowledge about my son
but that I struggled to convey to others. The organization provided behavior
management strategies that better suited our requirements. Moreover, PRISMS
offers a wealth of resources, research, and a welcoming supportive community.
Traveling through life with Adam has been quite an adventure. The journey is
ongoing but after 34 years I feel I have a perspective that has prepared me for
the role of regional representative. I look forward to meeting others as they
navigate life with their own SMSer.
Connect with Laura
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ERIN MORRISON
NORTH CAROLINA
My name is Erin Morrison, I live in Sylva, which is a small town located in the
mountains of Western North Carolina with my husband, Daniel, and our two
children, Kailee and Mitchell. Mitchell was diagnosed with SMS in 2020 shortly
after his 4th birthday. When the developmental-behavioral pediatrician called to
inform us of the diagnosis we were relieved to finally have an answer, yet that
began a long road of not only educating ourselves but those around Mitchell. I
joined PRISMS shortly after Mitchell’s diagnosis and have shared the information
from the PRISMS website countless times. We were lucky enough to travel to
Houston, TX to visit an SMS clinic. The clinic was amazing, and I highly
recommend visiting one if you have an opportunity. We are looking forward to a
return visit.
I am excited to be a Regional Representative for NC and help other families
navigate this new road. It can seem overwhelming at times but the love that
individuals with SMS show, far outweighs the challenging behaviors. I have often
thought if we, as adults, would show affection like those with SMS do, the world
would be a much better place. I look forward to serving my area and I hope you
will reach out.
Connect with Erin
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LINDA JOHNSON
DELAWARE
My name is Linda Johnson. I’m mom to Amanda, who was born in 1986. She was
diagnosed with SMS when she was 14. I spent those first 14 years going to
hundreds of doctors who diagnosed her with things ranging from autism, ADHD,
failure to thrive, and even suggested fetal alcohol syndrome. As you can
imagine, I was pretty upset about that one since I didn’t even touch a Tylenol
during pregnancy, let alone alcohol! I had pretty much given up when I happened
to take her to an eye doctor appointment. She had to have an exam to find her
prescription and the young optometrist asked me if I had ever had her
genetically tested. I actually had done so many years ago. She gently urged me
to go to a geneticist, so I did, reluctantly, because I expected that it would
once again show nothing conclusive. This time, testing showed the deletion and
Amanda was diagnosed with SMS. I found out later that optometrist had completed
her residency at Baylor Hospital and was part of the team that did some early
research. What were the chances of us seeing that one eye doctor who could
recognize SMS?
Amanda attended high school at the Davidson School in Elwyn, PA, and once
graduated, move to a group home here in Delaware.
We spend a lot of time together on weekends and during the evenings on the
phone. I’m proud to be the Delaware regional representative for PRISMS. It’s
such a great organization full of love and good people. I hope to support other
families and help provide a connection when it is needed.
Connect with Linda
CLOSE
ROXANA DRAGAN
ROMANIA
My name is Roxana Dragan and I live together with my family in Romania/
Constanta city (Eastern Europe). We are parents for two amazing girls, Riana –
14 and Iulia – 23. Our eldest is an aviation engineer. We found out during the
summer of 2023 that our youngest daughter, Riana, has Smith-Magenis Syndrome.
She is 14 years old and she always was a bit different than other kids at her
age.
After receiving the genetic analysis result, we finally were able to understand
and put together all the symptoms. As Regional Representative of PRISMS, in
Romania, I’ll answer every question that parents or families have and I will
support you and be next to you every time you need. Together we can move
mountains and we can help our children to deal with their genetic heritage.
Connect with Roxana
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PATTY LOYER
AZ, NE
My name is Patty Loyer. I moved to AZ from NC in 1996. Our family of four lives
in Gilbert, Arizona. After our son, Joey, was born in 2000, he was diagnosed
with SMS at 10 months old. PRISMS has helped us connect with other families,
especially before the age of social media. It has also created a place for
educators, respite/rehab and medical professionals to look to for guidance and
care for this SMS road we are all on.
I can help others with my background and education. I have three degrees in
education: BS in Elementary Education, a Gifted Endorsement and a Master’s
Degree in Education: Administration and Supervision. And just like all of the
SMS mamas out there, I have a MOM degree in special education. Since Joey was
diagnosed at such an early age, I am familiar with many programs starting with
the age group of infants and toddlers. Towards the end of his high school
years, both of Joey’s retinas detached. He is now legally blind. That combined
with his hearing loss and other SMS issues, he is DeafBlindPlus.
I love helping others in any way I can. If I don’t know how to, I will try my
best to learn how.
Connect with Patty
CLOSE
ERIC ROGERS
MEMBER AT LARGE
Eric and his wife Jessica live in Mount Juliet, TN with their son Wyatt (9) who
has SMS, and daughter Adelyn (5). Eric attended Cumberland University, receiving
a bachelor’s degree in accounting and a Master’s degree in Business
Administration.
He has worked as an Internal Auditor for over 8 years and has auditing
experience with banks, small non-profits, schools, and other financial services
firms. He has been with Deloitte for 7 years, starting with their Internal
Controls Group before transitioning to Internal Audit. In his position, he
conducts various finance and operational audits for the firm.
Eric’s involvement with PRISMS includes attending conferences and assisting with
sessions at the conference. Eric says he wanted to be involved with the PRISMS
Board to have the opportunity to be a part of something bigger than just a
parent of a SMSer. Being a part of the board will allow him to give back to the
SMS families and provide an outlet for them to learn, connect, and find a safe
place among friends. Eric loves to run, cycle, and compete in triathlons in his
free time. He also enjoys spending time with his family by the pool and
grilling.
Connect with Eric
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ANA WITHERSPOON
WA
My name is Ana Witherspoon, and I live in Spokane Valley, Washington. I have a
younger brother who is diagnosed with SMS. He was born in 2004 and was diagnosed
when he was 4 years old. I want to represent PRISMS because I want to get more
involved with the SMS community and do my best to be a resource.
Growing up with a brother with SMS changed my life in the most unexpected ways,
and I want to help families in whatever stage they’re in with their child with
SMS. It can be powerful and relieving to connect with someone else who shares a
similar experience to you. For me, I really only had my family to share that
experience and I felt a bit isolated from others who didn’t really know my
brother or what it was like to live with a sibling with SMS. I hope that I can
help and guide families to the right resources as they learn more about their
child and SMS. PRISMS is a great place for families to gain resources and
connect with those in the SMS community!
Connect with Ana
×
MICHELLE LARSCHEID
EXECUTIVE DIRECTOR
Michelle Larscheid has been with PRISMS for four years, most recently serving as
Events and Community Engagement Manager. Michelle has been involved in all
aspects of PRISMS’ programming, ensuring they support the organization’s
mission, vision, and values. If you attended the 2022 conference in Dallas, you
likely witnessed Michelle’s great energy and enthusiasm as she expertly led the
conference team in putting on an exceptional event.
Michelle has a B.S. in Journalism and Mass Communications from Iowa State
University. She has spent three decades working in public relations, marketing,
sales promotion, and event planning in diverse industries including financial
services, publishing, and entertainment. Before joining PRISMS, Michelle
co-created and operated a successful event rental business for nine years.
“I have always had a passion for helping others. Working with the SMS community
has given me a deep appreciation for the families we serve and has ignited a
passion for creating awareness for Smith-Magenis syndrome. I look forward to
even more engagement with the PRISMS community in this role.”
Michelle is a native of Minnesota and recently moved to Raleigh, NC, where she
lives with her family. Her hobbies include traveling, golfing, watching live
music, walking her dog, and spending time with her family and friends.
Connect with Michelle
×
SINAN OMER TURNACIOGLU, MD
PROFESSIONAL ADVISORY BOARD
Sinan Turnacioglu is a neurodevelopmental pediatrician at Children’s National
Hospital in Washington, DC, and is board-certified in child neurology and
neurodevelopmental disabilities. He completed his residency in pediatrics at
Georgetown University Medical Center and practiced general pediatrics for five
years before completing additional training in neurodevelopmental disabilities
at Children’s National. He is interested in new treatments for autism spectrum
disorder and neurogenetic disorders such as Fragile X syndrome, Rett syndrome,
neurofibromatosis, and Smith-Magenis syndrome, and likes working with families
to support their children’s neurodevelopmental needs. Dr. Turnacioglu grew up in
New Jersey and currently lives in Bethesda, Maryland with his wife, two
children, and their dog. He enjoys running, playing tabletop games, and reading.
Connect with Dr.Turnacioglu
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CHRISTOPHER VLANGOS PHD, FACMG
PROFESSIONAL ADVISORY BOARD
Dr. Christopher Vlangos is the Senior Director of Clinical Genetics at Tempus
AI. His work focuses on clinical assay development, lab management, and building
novel technology products in human genetics. Dr. Vlangos received his
undergraduate and graduate degrees from Michigan State University where he
performed his studies in the lab of Dr. Sarah Elsea. His work in the Elsea lab
focused on refining the Smith-Magenis syndrome critical deletion interval,
building a physical genetic map of the SMS region, and positional cloning of
genes within the SMS region.
Dr. Vlangos went on to pursue postdoctoral research projects at the University
of Michigan in genetic causes of kidney disease and caudal birth defects. Prior
to joining Tempus, he served at the University of Michigan Medical School as
junior faculty in the Department of Pediatrics, and Assistant Professor in
Pathology and Assistant Director of the Molecular Diagnostics Laboratory at
Virginia Commonwealth University. Dr. Vlangos is board certified in Clinical
Molecular Genetics by the American Board of Medical Genetics and Genomics.
Connect with Dr.Vlangos
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CORA TAYLOR, PHD
PROFESSIONAL ADVISORY BOARD
Dr. Taylor has expertise in the diagnostic evaluation of children with a range
of developmental concerns. At Geisinger, Dr. Taylor conducts research and leads
the phenotypic battery selection and administration on a variety of current
research protocols at Geisinger, with a focus on the phenotypic characterization
of individuals with rare genetic conditions.
Dr. Taylor has experience in engaging families and family-based organizations
for rare genetic conditions in research through online participation that is
offered internationally to patients and families. Prior to joining Geisinger,
Dr. Taylor completed her graduate training at the University of Tennessee, and a
research and clinical postdoctoral fellowship at Vanderbilt University.
Connect with Dr. Taylor
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JOHN BERENS, MD, FAAP, FACP
PROFESSIONAL ADVISORY BOARD
John Berens is an assistant professor of medicine at Baylor College of Medicine
and is board-certified in Internal Medicine and Pediatrics. Since completing
residency, he has worked as a primary care physician in the Transition Medicine
Clinic, which serves adults with intellectual and developmental disabilities,
including some individuals with SMS.
His special interests include healthcare transition, interprofessional
education, and addressing health disparities experienced by individuals with
disabilities across the lifespan. In addition to his clinical work, he leads
several grant-sponsored projects on related topics. He lives in Sugar Land,
Texas, with his wife and three children.
Connect with Dr. Berens
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AMY PEREIRA
MEMBER AT LARGE
Amy began her work with PRISMS in 2012 when she joined the Conference Planning
Committee. She is currently serving on the Conference Planning Committee and
Educational Committee. Amy lives in Idaho and is married to Brian. They have two
children together, Kaitlyn and Joey. Joey was diagnosed in 2009 with
Smith-Magenis Syndrome at 18 months old. Amy works for the University of
California, Davis as an Executive Analyst in the Provost’s Office and enjoys
traveling and spending time with family and friends.
Connect with Amy
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RACHEL FRANCISKOVICH, MS, CGC
PROFESSIONAL ADVISORY BOARD
Rachel Franciskovich is a board certified genetic counselor in the department of
Molecular and Human Genetics at Baylor College of Medicine. She is involved in
the care of individuals and families in the general genetics outpatient clinic
at Texas Children’s Hospital, primarily in The Woodlands. Additionally, she
assists with the management and care of individuals in the Smith-Magenis
Syndrome specialty clinic. Primary clinical duties include: clinical
evaluations, genetic testing coordination and selection, disclosure of results
and information, and management of clinic flow and coordination.
Connect with Rachel
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SANTHOSH GIRIRAJAN, MBBS, PHD
PROFESSIONAL ADVISORY BOARD
Pennsylvania State University, Department of Biochemistry & Molecular Biology
Santhosh Girirajan, MBBS, PhD, is an Associate Professor of Genetics in the
Department of Biochemistry and Molecular Biology and Anthropology at Penn State.
A physician by training, Dr. Girirajan obtained his medical degree from
Bangalore University and a PhD in human genetics from the Medical College of
Virginia, Virginia Commonwealth University, Richmond, Virginia. During his
graduate studies in the lab of Dr. Sarah Elsea, Dr. Girirajan performed human
genetics research to identify and characterize genes responsible for
Smith-Magenis syndrome. He performed postdoctoral training in the lab of Dr.
Evan Eichler in the Department of Genome Sciences at the University of
Washington, studying the mechanisms and consequences of large genomic changes
with particular relevance to human neurodevelopmental disorders. Dr. Girirajan
joined Penn State as a faculty member in the summer of 2012. The primary focus
of his current research is to understand the clinical and genetic heterogeneity
of neurodevelopmental disorders with a specific focus on autism.
Connect with Santhosh
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REBECCA FOSTER, PHD
PROFESSIONAL ADVISORY BOARD
St. Louis Children’s Hospital, Department of Psychology, St. Louis, MO
Rebecca Foster is a licensed pediatric psychologist at St. Louis Children’s
Hospital/Washington University School of Medicine in St. Louis, MO. Dr. Foster’s
clinical, research, and teaching efforts emphasize the promotion of psychosocial
well-being and quality of life among medically complex pediatric populations and
examining family/sibling adaptation and caregiver well-being within the context
of chronic illness and/or neurodevelopmental disorders. Recent work in SMS has
focused on identifying and meeting caregiver/parent and typically-developing
sibling psychosocial needs, with a concentration on benefit finding and adaptive
coping across the lifespan.
Connect with Rebecca
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NANCY RAITANO, PHD
PROFESSIONAL ADVISORY BOARD
Nancy Raitano Lee, PhD, is a clinical child psychologist and associate professor
of Psychology at Drexel University who specializes in developmental
neuropsychology. She received her Bachelor of Science Degree in Human
Development and Family Studies from Cornell University and her doctorate in
Clinical Child Psychology from the University of Denver. Her research aims to
augment knowledge about the causes and correlates of neurodevelopmental
disorders through the use of innovative neuropsychological and neuroimaging
technologies. While most of Dr. Lee’s research to date has focused on youth with
other neurogenetic syndromes, she is currently collaborating with PRISMS
professional advisory board member, Ann Smith, on a project in which they are
examining the occurrence of autistic traits in youth with SMS and other
neurogenetic syndromes. Dr. Lee is enthusiastic about doing more research
focused on SMS and is looking forward to contributing to the PRISMS professional
advisory board and getting to know the PRISMS community in the coming years.
Connect with Nancy
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CHRISTINE BRENNAN, PHD CCC-SLP
PROFESSIONAL ADVISORY BOARD
University of Colorado, Boulder, CO
Christine Brennan, PhD CCC-SLP, is an assistant professor at the University of
Colorado, Boulder. She is a developmental cognitive neuroscientist and
speech-language pathologist. Dr. Brennan is the director of the ANCAR Lab
(Applied Neuroscience for Communication and Reading) at the University of
Colorado, Boulder. As a speech-language pathologist, Dr. Brennan has worked with
several children with SMS. Recently, Dr. Brennan has begun to design and present
PRISMS conference talks specifically at adolescents and adults with SMS. While
Dr. Brennan currently resides in Boulder, CO, she continues to own a private
practice in Illinois, which continues to provide treatment services to children
with SMS. Dr. Brennan currently teaches undergraduate and graduate courses in
the department of Speech, Language, and Hearing Sciences at the University of
Colorado, Boulder. She earned her BA from Southern Connecticut State University
and her PhD and MA from Northwestern University.
Connect with Christine
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ANDREA GROPMAN, MD
PROFESSIONAL ADVISORY BOARD/EM>
Children’s National Medical Center, Washington, DC
Andrea Gropman is a child neurologist and clinical and biochemical geneticist at
the Children’s National Medical Center in Washington, DC, where she is Chief of
Developmental Disabilities and Neurogenetics. She is also Principal
Investigator, at Children’s Research Institute Center for Neuroscience Research
(CNR). Dr. Gropman is Principle investigator for the Urea cycle rare disorders
consortium. Dr. Gropman specializes in neurogenetics, with a focus on
mitochondrial disorders, Urea cycle disorders, XY chromosome aneuploidies and
Smith-Magenis Syndrome.
Connect with Andrea
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KERRY BOYD, MD, FRCPC
PROFESSIONAL ADVISORY BOARD
McMaster University, Michael G. DeGroote School of Medicine, Hamilton-Niagara
region, Ontario, Canada
Dr. Kerry Boyd is a psychiatrist who has dedicated her career to the field of
developmental disabilities across the lifespan. She has been working with people
with SMS for over 15 years and has been privileged to be affiliated with PRISMS
since 2008. She is an Associate Clinical Professor for the Department of
Psychiatry and Behavioural Neurosciences at McMaster University. She works with
McMaster Children’s Hospital, Niagara Health and Bethesda Services in the
Hamilton Niagara region. As an AMS Phoenix Project Fellow, Dr Boyd rallied a
network of partners to develop the Curriculum of Caring for People with
Developmental Disabilities to create web-based resources found at
CommunicateCARE.machealth.ca.
Connect with Kerry
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BARBARA HAAS-GIVLER, MED, BCBA
PROFESSIONAL ADVISORY BOARD
Geisinger’s Autism & Developmental Medicine Institute, Lewisburg, PA
Barbara Haas-Givler is a board certified behavior analyst and Director of
Education & Behavioral Outreach at Geisinger’s Autism and Developmental Medicine
Institute in Lewisburg, PA. Ms. Haas-Givler has extensive experience in special
education, serving in many different capacities over the course of her career,
including classroom teacher, administrator, educational consultant, behavior
analyst, and research associate for clinical pharmaceutical trials. Ms.
Haas-Givler frequently presents at local and national conferences and provides
consultations and trainings on strategies to support students with genetic
syndromes. She has co-authored several publications on topics related to genetic
syndromes, including frequently cited articles on the educational and behavioral
manifestations of Smith-Magenis Syndrome.
Connect with Barbara
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ANN C.M. SMITH, MA, DSC (HON), CGC
PAB CHAIR EMERITUS
National Human Genome Research Institute
National Institutes of Health (NIH), Bethesda, MD
Ann Smith is a board certified genetic counselor and internationally recognized
leader in the field of medical genetics and genetic counseling for over 40
years. Now retired from the medical school faculty at Georgetown University
(1994-2008), Ann continues to work as a senior genetic counselor under contract
to the National Human Genome Research Institute (NHGRI) in the Office of the
Clinical Director, dividing her time between clinical and research activities at
the National Institutes of Health (NIH) in Bethesda, MD. She heads the
collaborative NIH multidisciplinary SMS research team of basic science clinical
researchers, serving as Adjunct Principal Investigator of two SMS related
protocols (01-HG-0109 SMS natural history study; 07-HG-0076 Phase I sleep
treatment trial). As a founding member of PRISMS in 1992, Ann chaired the
Professional Advisory Board (PAB) until 2011, and now serves as PAB Emeritus
Chair, having dedicated over 3 decades of her professional career to the study
of SMS, the syndrome she co-discovered in early 1980’s.
Connect with Ann
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SARAH ELSEA, PHD
PROFESSIONAL ADVISORY BOARD CHAIR
Dr. Sarah Elsea is a professor of Molecular and Human Genetics, and senior
director of Biochemical Genetics at Baylor College of Medicine in Houston, TX.
She is a board-certified biochemical geneticist by the American Board of Medical
Genetics. Dr. Elsea is an educator, training students at all levels, from high
school to graduate and medical students to physicians. She also provides
clinical consultations and focuses her research efforts towards characterizing
Smith-Magenis syndrome and related genetic neurodevelopmental disorders. Dr.
Elsea’s lab identified RAI1 as the causative gene for SMS and has targeted
research efforts toward understanding the function of RAI1, particularly the
role of RAI1 in circadian rhythm, metabolism, and obesity, as well as approaches
to therapies for SMS. Her collaborative work with Dr. Foster also assesses
caregiver and sibling concerns in families of children with developmental
disabilities. The SMS Patient Registry, collecting natural history data about
individuals with SMS, is housed in Dr. Elsea’s lab at Baylor College of
Medicine.
Connect with Sarah
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GLEN & KRISTINE BRADEN
CT
We are Glen and Kristine Braden and live in Southern Connecticut, representing
PRISMS as a Regional Representative for CT. We got involved with PRISMS after
the diagnosis of our adopted son, Tully, when he was 11 years old. We have
enjoyed attending PRISMS conferences and for our first conference were amazed to
meet so many other SMSers just like him! We learned about guardianship after
18, financial planning, adult housing strategies, help with behaviors, and the
latest medical research. Tully’s health is now monitored by an SMS clinic that
we identified at the most recent PRISMS conference in Dallas. We have spent the
past 26 years living abroad in Asia and Europe, working with schools and
programs in our host countries to meet Tully’s needs. We recently relocated
back to the United States and Tully, who is now 26, attends a day program in our
area.
Connect with Glen & Kristine
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JOHN ROSEBOROUGH
KS
My name is John Roseborough and I am the regional representative for Kansas. My
daughter Elsie was born in 2012 and was diagnosed at age 3. I have been
affiliated with PRISMS since 2016, soon after my daughter was diagnosed with
SMS. PRISMS has been a source of information as well as a supportive community.
I’ve gained so much learning from the publications and two conferences I’ve
attended to date, and I’ve made many friends through the organization who have
helped us come to terms with the diagnosis and helped us on the SMS journey.
My hope is to serve others in the community by being available as a point of
contact for anyone diagnosed. I can share the resources that have helped us. My
wife Joanna and I can connect families with ourselves or others who can provide
empathy and if requested, guidance on things we or others have some experience
with. We want to help others as there are so many uncertainties and challenges
(and at times, joys) that come with the SMS diagnosis. We see a need for
families in Kansas to meet up face to face periodically (establish more frequent
social connections), and perhaps we can help with fundraising for PRISMS too!
Connect with John
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BARCLAY DARANYI
WY, CO, UT
As you may or may not know, we live in a remote part of southwest Colorado. Ali,
our daughter, age 30 (4/11/1988) lives in the town of Grand Junction and we live
about 120 miles from there in the town of Norwood. We are very close to the four
corners area and about a 6.5 hour drive from Denver.
Ali was born at St. Mary’s Hospital in Grand Junction. While still in the
hospital, we sent a DNA sample to University Hospital, in Denver, for a genetic
work up. Ann Smith was working there at the time and two weeks later we received
the news that Ali was missing a part of her 17th chromosome. There were only
seven case studies on this disorder at the time and PRISMS was still about five
years away from being formed. We knew so little at the time and I often wonder
what it would have been like if we had had the PRISMS community to help us in
those early days.
We met Ann Smith and Maggie Miller when Ali was about three and attended the
very first PRISMS conference in Washington DC in 1998. We have attended four
conferences since then, meeting other parents and individuals with SMS. The
community of people we’ve met through PRIRMS has enriched our lives beyond
measure and helped us feel a little less alone as we travel this challenging
path of parenting an SMS individual. We consider the PRISMS family our “tribe”
and are humbled by the love we feel from this group.
I am now at a position in my life where I can give back to this wonderful
community. Its been a long and challenging journey with Ali but I feel blessed
to be her mother. I would love to be able to help other parents by being a good
listener and pointing them towards the resources they might need. I can
especially relate to those who live in remote/rural areas.
Connect with Barclay
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ASHTON CHARMAINE
LA
My name is Ashton Chermaine and I am representing South Louisiana and the Gulf
Coast. My child is Krista and she is 29 and was born in 1989. She was diagnosed
in October 2000. I have been affiliated with PRISMS for over 15 years. PRISMS
has provided a vast amount of education and resources that has helped our
daughter lead a productive life. I have 30 years of experience raising a SMS
child and feel that I can provide a comforting voice of experience.
Connect with Ashton
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CARISSA LE
MN, ND, SD
I’m Carissa Le, from Lakeville, MN (30 miles south of the Twin Cities). My
daughter, Scarlet, is 11 years old. She was diagnosed at 16 months in September
of 2008. I’ve been a member of PRISMS for a few years and have attended the last
2 international conferences. When my daughter was tested for SMS, my mom found
the PRISMS website and shared it with me. My jaw dropped as I found “twins” from
all over the world in pictures on the site. I knew SMS was the diagnosis before
the testing was even complete. I’ve used the website and those I’ve met thru
online boards to help me as questions arise.
I can be of assistance to others in my area by leading them to PRISMS, giving
them pamphlets and other literature, and hosting get-togethers.
Connect with Carissa
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RHONDA LOWNEY
AZ, NE
I feel honored to be a part of PRISMS! My name is Rhonda Lowney and I represent
Arizona. My daughter Jude was diagnosed at the age of two and I believe I have
been a member of PRISMS ever since, the geneticist that gave us our diagnosis
told us about PRISMS when she gave us the news and I don’t really know how we
would’ve made it through the SMS diagnosis and life without PRISMS. The support
from the organization, the conferences, and the connection with the other
parents have been a life saver, both mentally and physically. I hope to help any
newly diagnosed families in my area with any emotional and practical support
available and I also hope to deepen the connection between the already diagnosed
families that live here in our state. I am hoping that my seventeen years’
experience as a parent along with the amazing support of PRISMS will enable me
to be of service!
Connect with Rhonda
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RON DIXON
IA
My name is Ron Dixon and I live in Bettendorf, Iowa. My son Joshua, goes by
Josh, was born in 1995 and was diagnosed with SMS at age 16. I have been a
member of PRISMS since 2013. I decided to volunteer as a regional representative
as a way to give back to the SMS family who helped us obtain a diagnosis and
learn how to best advocate for Josh while giving him space to have ownership of
his life to the greatest extent reasonable. I grew up in Iowa and know that it
can be a bit of a challenge to obtain regular medical services let alone all the
support for diagnosing and learning to thrive with a child with a rare disorder
and we hope to help bridge that gap at least a little bit. The picture is Josh
with his best friend Mason.
Connect with Ron
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MARIA FEAGIN
ID
My name is Maria and I live in Boise, ID. I am a mom to 4 boys including an
almost 2 year old SMS angel boy named Hunter, a bright and loving little guy,
who loves snuggles and tickles, his big brothers and his iPad. Hunter was born
July of 2017, we received his diagnosis at 9 weeks old in September 2017, this
was a true blessing because it has helped us prepare and understand the many
challenges we have experienced since the day he was born. I learned about PRISMS
the day we received Hunter’s diagnosis but, I did not become a member until 2018
when I learned about the membership.
PRISMS has been a wealth of information and support for me since Hunter’s
diagnosis. I want to represent PRISMS because I know what is it like being in
the situation of learning that your child has SMS. It can be scary and at times
feel lonely, and I want to be a person of support, someone parents can reach out
to to help find information or professionals in the area, as well as emotional
support.
Connect with Maria
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CAITLIN SELDON
MI
My name is Caitlin Seldon, and I am the Regional Representative for Michigan. I
am an elementary teacher turned stay at home mother for two beautiful daughters,
Robin (9/11/2014) and Avery (9/29/2016). My husband and I live in Highland,
where my husband works as a mechanical engineer at the General Motors Proving
Grounds. Robin was diagnosed with Smith-Magenis Syndrome on October 31st, 2016
at 2 years old. We became members of PRISMS immediately following Robin’s
diagnosis and have found the resources extremely useful. My husband and I
attended our first conference in Pittsburgh last year. After attending the
conference, I had a strong desire to become more involved in our community.
As Regional Representative, my hope is to provide emotional support and
educational resources to newly diagnosed families. I am still learning how to
navigate life with a child with Smith-Magenis Syndrome, but I would love to
provide a shoulder to cry on and offer hope to anyone that may need it. I would
also love to get local families together in an informal setting where everyone
feels comfortable and has the ability to make connections. Please feel free to
contact me at anytime!
Connect with Caitlin
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JULIA HETHERINGTON
SC
My name is Julia Hetherington and I live in Beaufort, SC. My daughter is Rachel,
born in 1994, and diagnosed with SMS at 8 years old. I have been a PRISMS member
for 17 years. I served on the PRISMS board of directors for many years and am
now looking forward to serving as the SC representative.
Connect with Julia
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LIZ AND BILL YATES
VA
We are Dr. William and Mrs. Elizabeth Yates (AKA Bill and Liz), parents of our
SMSer 32-year-old daughter, Mary (AKA “Puzzle queen”). She is our one daughter
of six children. We live in Northern Virginia, where Bill is an adjunct
professor with two universities, specializing in the discipline of project
management. Liz is a special education teacher and professionally certified
educational therapist. After working through the puzzle of Mary’s various
challenges for 28 years, we were finally made aware of SMS through our
neurologist’s nurse. Finding the PRISMS website, we were immediately convinced
to have genetic testing done. Being lifelong learners, we have researched and
learned much (often by trial and error) about what makes Mary unique and how to
work through those sometimes very challenging moments and days. With support
from church friends, and PRISMS’ research, we continue to learn and hope to
listen to, and offer support, to other families who have a desire to connect on
this journey.
Connect with Liz & Bill
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TRACIE BELCHER
WV
My name is Tracie Belcher. My daughter Emily and I live in the mountain state,
West Virginia. Emily was born in 1990 and diagnosed with SMS in 2000. We have
been a part of the PRISMS community since her diagnosis, having attended
conferences, fundraising events and social gatherings. I also volunteered for a
time as the PRISMS newsletter editor.
I have had the opportunity to be involved in the special needs community in my
state by providing assistance and resources related to guardianship, estate
planning, social opportunities and educational needs.
I look forward to being the regional representative for West Virginia and I
encourage anyone in my state to contact me at any time if you need assistance,
support or just someone to talk with who understands.
Connect with Tracie
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RHONDA FRANKLIN
SC
I am the proud parent of James Evan Franklin. Evan was born on November 2, 1982.
His diagnosis of Smith-Magenis Syndrome did not occur until January of 1990 at
the age of 7. Before that time, he had been diagnosed as learning disabled with
ADHD. But we knew there was more to it than that. It was a relief to finally have
a diagnosis but still very little was known at that time. My husband, John, and
I joined PRISMS in 1993. It was a blessing to learn from others who were
experiencing the same struggles with their children as we were. The information
they provided helped us to educate those in the school system who needed to
understand Evan. We attended the first National SMS Conference in March of 1997.
As a representative for the state of SC, I hope to share my knowledge and
experience with other parents of SMS children and adults as they navigate
through their journey. I plan to provide guidance and support as we discuss
their situations and ultimately lead them to the available resources, contacts,
etc. that can offer some resolution. It is also my intent to collaborate with
other regional representatives to plan events so that families can connect face
to face. I have attached a picture of Evan and myself. This is the most recent
we have of the two of us together. He tends to not like to have his picture
made… unless it’s with any type of character in costume!!
Connect with Rhonda
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MARNI ROLSTON
MT
My name is Marni Rolston, and I live in Bozeman, MT with my husband, Jed Huseby,
and our daughter, Ida May (age 14) and our son, Sorin (age 10). Ida May was born
in 2005, and we received her diagnosis of Smith Magenis Syndrome when she was 9
months old. Ida participated in the National Institutes of Health (NIH) “Natural
History Study of Smith Magenis Syndrome”, and we met Ann Smith on Ida’s first
birthday. I became a member of PRISMS in 2006, and have attended every
conference since then.
I was interested in representing PRISMS and becoming a Regional Representative
because I want to help families understand that even though the diagnosis of
Smith Magenis Syndrome can be frightening and overwhelming, there is a strong
community of support within PRISMS and from other families who experience this
syndrome on a daily basis. I understand that living in a remote part of the
country with limited access to health care, therapies and other SMS families can
be difficult. I also understand the daily anxiety and exhaustion of trying to
help and advocate for a child with a rare and sometimes difficult syndrome. I
want families to feel free to contact me with any question, struggle or
celebration they may want to share about their SMS child. And I want to help
them feel empowered, knowing that there is a strong, vibrant community of people
within PRISMS who can help them answer almost any question they may have about
SMS.
Connect with Marni
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MICHELE ZDANOWSKI
MI
My name is Michele Zdanowski, and we have been PRISMS members for nearly 20
years. The first conference we attended was the Second Conference held in
Arlington, Virginia. And that was just the beginning of our SMS friendships,
and with each conference the SMS friendships and comradery continues to grow.
Our daughter, Krista, was not diagnosed until the age of 6 years old. She spent
most of her elementary years in inclusive general education. We spent a lot of
time and effort advocating for her needs throughout her educational years. Here
in Michigan school supported special education services continue until the age
of 26, so now we are just beginning to navigate the next stages of her life
needs and supports. I have always been so proud of PRISMS and the support it
has to offer the families, friends, and healthcare professionals. I am so
amazed of how wonderfully the organization has grown over the years. I am
thrilled to be able to be a part of the Regional Representative program and I am
looking forward to help and serve the SMS community.
Connect with Michele
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THERESA & MARK SMYTH
CANADA (QC,NS,NL, NB,PE)
We are Mark and Theresa Smyth and we live in Ottawa, Canada. We have three
wonderful children, Thomas is 12, Julianna 10 and Daniel is 8. Mark has worked
in the financial sector at RBC Dominion Securities Inc. a brokerage firm for 20
years since graduating from the University of Western Ontario. Theresa has been
a Registered Nurse (RN) for 18 years at the Ottawa Hospital on a surgical floor.
Our family leads a busy and active life with swimming lessons and baseball in
the summer and skiing in the winter.
Our beautiful son Thomas was diagnosed in 2019 with Smith-Magenis Syndrome at
the age of 11. We would like to assist newly diagnosed families with support and
information. Raising a child with SMS is full of beautiful moments and is very
rewarding, although we know it can be challenging as a parent. We would like to
use our experience and resources to help and encourage other parents. We want
parents to know that they are not alone and they can access help through PRISMS.
Connect with Theresa & Mark
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MICK PEARSON
UNITED KINGDOM
Mick is the regional representative for PRISMS in the United Kingdom. He is also
a trustee to the Smith Magenis Syndrome UK Foundation. He is very proactive
within the foundation giving support and life experiences to families new and
old. Mick’s drive is to support families newly diagnosed with Smith-Magenis
Syndrome and seeks to connect with them in his unique way.
Mick also supports dads living with Smith-Magenis Syndrome and assists in
helping them to connect with each other, he is also keen to promote awareness
and fundraising for children and adults with Smith-Magenis Syndrome. His son
Riley was born in 2011 and diagnosed in 2014.
Connect with Mick
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ABBY BELL
AR
My name is Abby Bell. My son Turner was diagnosed with Smith-Magenis Syndrome
when he was three years old in 2016. He is the third of four children. Life with
SMS isn’t easy but we sure love Turner and we can’t imagine life without him. We
found the PRISMS website almost immediately after getting his diagnosis. It was
a huge help! We were able to learn and gain hope from the things that we read.
We attended the PRISMS conference in 2018 and I can’t say enough good things
about it. We met so many amazing people and discovered a whole new family and
support group that we didn’t even know we were missing.
I’m so grateful to be a regional representative for PRISMS. I hope that I can be
a help and support for you. Please reach out with whatever questions or concerns
you may have. I am here to listen, help and support you. Welcome!
Connect with Abby
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HEATHER BONEY
LA
My name is Heather Boney. We live in Lafayette Louisiana. My daughter Jayci is
11 and was diagnosed at 6 months old. We were given a genetics report and PRISMS
information guide. She is the oldest of my two children and she can light up the
entire room with her infectious smile! Life may not be exactly what we had
planned but it truly is a good life. The resources and family connections are so
important in learning to live life with SMS! I’m am looking forward to attending
our first conference in Dallas July of 2020. I am looking forward to starting
this journey of regional rep and hope I can help other SMS families. Please feel
free to reach out if you have any questions or concerns.
Connect with Heather
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BELA KAFENGAUZ & ALEXANDER TZETLIN
RUSSIA
We are Bela Kafengauz and Alexander Tzetlin, we live in Moscow and represent
PRISMS in Russia. Our eldest daughter Sophia was born in 1984, at the time when
Smith Magenis Syndrome was yet to receive it’s name. When Sophia began to
develop atypically, no one could tell us what was wrong. We were seeking help
from numerous specialists up until 1997, when we were able to send her blood
sample for FISH analysis to Canada. Most likely, Sophia was the first person
diagnosed with SMS in Russia.
Sophia is 35 years old now. She lives with us, she can read, write, uses
computer and smartphone. She is very sociable and her biggest hobby is talking
to other people and learning more about their lives. Sophia keeps herself busy –
she can talk on the phone, watch TV and listen to music all day long.
Being the first family on the way of raising and educating a child with SMS in
Russia was not easy. We wanted to share our experience and make it easier for
others. Bela wrote a book about our daughter’s infancy and her preschool and
school years, and difficulties that our family had confronted. The book was
published in 2008. Later in 2010, we created a website about SMS in Russian
http://smith-magenis.ru/ . Over the years a Russian SMS community has gathered,
consisting of the Russian families and professionals interested in this
syndrome. We are proud to represent PRISMS in Russia and be of help for families
like ours.
Connect with Bela & Alexander
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KEVIN DALY
NC
Hi! My name is Kevin Daly and I live in Charlotte, NC. My son, Michael, was born
in 2001 with a heart defect called Tetrology of Fallot and diagnosed with SMS
almost immediately after he was born. My journey with SMS started with a good
bit of denial. When Michael was diagnosed, I was given the PRISMS website and
upon scanning the site a little, promptly decided to pay no attention. Over
time, as Michael grew up and matured, it became clear that sharing the SMS
diagnosis with as many people as possible was the right way to go. Not only does
that help promote awareness, but also provides caregivers and teachers an
understanding of why certain behaviors might be taking place, which then allows
for better support for Michael through his life. The one thing I constantly
remind myself is that the majority of the time Michael is a fun, loving, happy,
and laughing young man. The challenges we encounter, while sometimes extreme in
the moment, really represent a very small part of his daily life. Please reach
out with questions on any topic or just to talk about anything that might be on
your mind.
Connect with Kevin
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PHIL RUEDI
TREASURER
Phil has been a member of the PRISMS board since 2010, taking a short break in
2021-2023. He serves as Treasurer as well as chairman of the finance committee
and as a member of the executive committee. Phil is a portfolio manager at
Wellington Management in Boston, MA. He and his wife, Laura Staich, live in
Brookline, MA with their son Griffin (11, SMS) and daughter, Arden (7).
Connect with Phil
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BRANDON DANIEL
IMMEDIATE PAST PRESIDENT
Brandon joined the PRISMS board in January 2015, assisting with fundraising and
taking on the role of secretary in January 2016. He was elected President in
2019. Brandon’s second term as President concluded in December 2023 and he has
since moved into the Immediate Past President board role. Brandon is the
strategic sales manager for Ag-Power, Inc., a John Deere dealer. Brandon
currently serves as Chair for his town’s planning and zoning commission. He and
his wife, Dawnda, live in Prosper, TX, a suburb of Dallas. They have three boys,
ages 19, 17, and 10. Their seventeen-year-old son Coulter, was diagnosed with
SMS in 2007.
Connect with Brandon
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DENIEN RASMUSSEN
FUNDRAISING COMMITTEE
Denien became a member of PRISMS in 2008, when her son, Matthew, (then four) was
diagnosed with SMS. She attended her first PRISMS conference that year in
Virginia, and has been to every conference since then. In 2010, she and Matthew
joined Ann Smith at the NIH for the Bright Light Sleep Study. Denien organized
the “PRISMS Manna Script Gift Card Program” and created the “IT worked for me”
section in the PRISMS’ newsletters. Denien is also the Midwest Regional Rep for
PRISMS. She was invited to speak at the Northwest Special Recreation Association
(NWSRA) to educate the staff about SMS. She is an active participant and
resource for Palatine School District 15 Multiple Needs Program. Professionally,
Denien is the Chief Operating Officer and Chief Compliance Officer of R.W. Smith
& Associates, LLC where she has worked for more than 31 years. She and her
husband, Jim, live in Palatine, IL and are the parents of 12-year old twin boys,
Matthew (SMS) and Michael.
Connect with Denien
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JACKIE FALLENSTEIN
VICE PRESIDENT
Jackie became a member of PRISMS shortly after her son, Michael, was diagnosed
in 2010, at 7 months old. She attended her first PRISMS conference in Denver in
2012 and has attended nearly every conference since then. Jackie enjoys
connecting with local SMS families, organizing an SMS mini-conference in
Minneapolis and working to establish an SMS Clinic in the Twin Cities area. She
is grateful for the support PRISMS has provided to her family over the years and
is excited to work on the board to extend this support to other families. Prior
to being a stay-at-home mom, SMS caregiver and community volunteer, she worked
in marketing. She is now attending graduate school to become a licensed
professional counselor. She enjoys almost any outdoor activity and reading
novels and historical fiction. Jackie and her husband, John, live in the
Minneapolis, MN area with their sixteen-year-old daughter and Michael, who is
now twelve years old.
Connect with Jackie
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PERCY HUSTON
PRESIDENT
Percy joined the PRISMS board in 2006, initially to spearhead fundraising
efforts. As an at-large member, he has since served on the finance committee and
strategic planning committee. In 2014, he was asked to initiate the regional
representative program and coordinate volunteer efforts from those in the PRISMS
community. Percy served as Treasurer and most recently has moved into the role
of President. Percy is involved in family banking in Missouri and also
represents Indeflex in the credit card processing industry. He and his wife,
Bernadette, live in Cape Girardeau, MO. They are the parents of Jacqueline, a
32-year-old daughter with SMS, and a 30-year-old son, J.P. who resides in
Nashville and is employed by Truist Bank. They also have two older sons, Shawn,
49, and Billy, 47, and 6 grandchildren.
Connect with Percy
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LYNDA KILIAN
STAFF
Lynda works part-time for PRISMS and is primarily responsible for managing all
donations received. Lynda brings over 40 years of professional experience in a
wide array of areas, including administrative, financial, publications, human
resources, and creative. Her latest endeavor was owner/operator of a successful
event decor rental and decorating business. Lynda lives in the Minneapolis area
with her husband as empty nesters and has two adult daughters. She recently
became a grandmother and loves spending time with her grandson whenever
possible. She enjoys her time with family and friends and likes to cook,
entertain, read, golf and travel.
Connect with Lynda
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DIANE ERTH
SECRETARY
Diane lives in San Diego, CA with her husband, Joe, and their son, Max. She is a
Stay at Home Mom but feels she deserves a more elaborate title as she finds
herself wearing many hats and often several at the same time. Diane enjoys
taking Max on new adventures around the globe. Visiting Disney parks and going
on Disney cruises are favorites for the whole family. Max was diagnosed with
Smith-Magenis Syndrome at just 30 days old. Diane and Joe did a lot of research
online and found PRISMS. When they reached out to the then Prisms President,
they were able to ask questions and felt it was good to talk to another parent
about their concerns. Diane has made it a personal goal to welcome and offer
support to all SMS families and to be available to answer questions and help the
newly diagnosed families. Diane has served in various positions on the Prisms
Board since 2017.
Connect with Diane
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THERESA WILSON, MS, RD
STAFF
Theresa Wilson is a registered dietitian with more than 15 years of experience
in pediatric obesity research. Currently, she works as a research coordinator in
the Molecular and Human Genetics Department at Baylor College of Medicine. Her
responsibilities include management of the Smith-Magenis Syndrome Patient
Registry, as well as other studies for individuals with SMS. Theresa is
compassionate in her work with families affected by genetic conditions, as the
mother of two children with genetic diagnoses.
Connect with Theresa
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MARGARET MILLER
FOUNDING MEMBER
Margaret Miller is the Founding President of PRISMS. She began PRISMS along with
her husband Scott Miller, Ann Smith, and Brenda Finucane. She was inspired to
help develop this organization after receiving the diagnosis of SMS for her
infant daughter. There were no SMS organizations at that time and very little
information was available. So her desire to start PRISMS came from the need to
understand more about SMS and to connect families with researchers and other
professionals. She has served on the PRISMS Board as President, Past-President,
Vice President, Founding Board Member, (currently), and Board Member at Large.
Margaret has helped to chair and plan eleven international conferences and ten
research symposiums. She has been an invited speaker on SMS at educational
conferences, college seminars, and the National Institutes of Health. Margaret
is passionate about working closely with researchers, professionals, industry,
and pharmaceutical leaders and believes that we can only make greater strides in
our mission when we work together. Margaret lives in a suburb of Washington DC,
with her husband and daughter.
Connect with Margaret
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JASON MICHAUD
MEMBER AT LARGE
Jason joined the PRISMS Board of Directors in January, 2022 as an at-large
member. Jason’s goal is to be a part of the work that brings resources and
support to SMS families. PRISMS has been the greatest gift to his family on
their SMS journey and his desire to give back in order to help others on their
journey is what inspired him to join the board. Jason and his wife Charlene
reside in Sherwood Park, Alberta, Canada with their two sons Ryan (13), Nikolas
(11) and their daughter Jillian (9). Jillian was diagnosed at the age of 3.5
years with SMS. Jason is proud to be the first Canadian board member for PRISMS
and in his spare time he enjoys coaching and playing ice hockey in the winter
and camping in the summer.
Connect with Jason
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MICHELLE LEE
AWARENESS COMMITTEE
Michelle lives in League City, Texas with her husband Kerry and their two sons
Dalton (SMS) and Xander. She is a former educator who stays home and homeschools
her boys and balances her time between normal homeschooling lessons, martial
arts classes, church and other social activities.
She found PRISMS shortly after Dalton was diagnosed at age 8 in 2011 and
attended her first conference. She has worked on a few small projects for PRISMS
and is also an admin to a small SMS awareness Facebook page her sister started
shortly after Dalton was diagnosed.
When not homeschooling the boys, She is training at a local martial arts school
and volunteering as an assistant at their black belt graduation programs. She
also hosts their annual 5K as the race director.
Connect with Michelle
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MICHELLE LARSCHEID
STAFF
Michelle is the Event and Community Engagement Manager for PRISMS. She
previously served part-time as Program Assistant and then as Program
Coordinator. In this new role, Michelle will work closely with the Executive
Director and PRISMS Board of Directors to build programs, host events, and
strengthen the SMS community. Michelle has 30 years of marketing, public
relations, and event planning experience. Michelle is a native of Minnesota and
recently moved with her family to Raleigh, NC, where she lives with her husband
and three children. In her spare time, she enjoys thrift shopping, walking with
her dog, volunteering, traveling, and spending time with family and friends.
Connect with Michelle
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JILL WOOD
AL
Jill Wood lives in North-Central Alabama. Her son, Kace, was diagnosed with SMS
in 2012 just before his second birthday. She is grateful to have found PRISMS in
a Google search after they received Kace’s diagnosis. They were able to attend
their first PRISMS conference in Colorado only a few short months after
diagnosis. The wealth of knowledge they found at the conference(s) has been
invaluable to them, as they have always struggled to find medical professionals
with knowledge or understanding of SMS. The connections and camaraderie with
other families we found through PRISMS has been a priceless gift to their
family.
Connect with Jill
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KIM WIRTH
LA, MS
My name is Kim Wirth. I am the Regional Representative for Louisiana and
Mississippi. My daughter Evelyn was born in New Orleans in 1999. She received
her SMS Mutation diagnosis in Texas at the age of 18. A few months after
diagnosis, she moved into a group home and lived there for nearly 4 years. In
January 2022 she moved home to Louisiana. Since moving home, Evelyn has
reconnected with family, made many new friends, and joined the Happy Bowlers and
Able Club social groups. She enjoys cooking, coffee, bowling, puzzles, and
caring for our animals.
We attended our first conference in August 2022. What a wonderful experience! We
connected with other SMS families, learned about the latest research, and found
an incredibly supportive community. The best part of the conference was meeting
wonderful, older SMSers who shared Evelyn’s zest for life. Our SMS journey has
been filled with so many incredible experiences. Evelyn’s sense of humor keeps
us all laughing. I could write a book filled with both joyful stories and
challenges we have faced.
As a Regional Representative, I hope to support other families as they navigate
the SMS diagnosis. SMS can be consuming and isolating. Developing a connection
with others who understand your situation is priceless. I hope to help organize
local gatherings and encourage family connections.
Connect with Kim
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JANE CHARLES, MD
PROFESSIONAL ADVISORY BOARD
Medical University of South Carolina, Charleston, SC
Dr. Jane Charles is a Developmental-Behavioral Pediatrician in the Departmentof
Pediatrics, Division of Developmental-Behavioral Pediatrics at the Medical
University of South Carolina in Charleston, SC. Dr. Charles is an active
clinician, researcher, and educator. Her areas of specialization are in the
fields of Autism Spectrum Disorders (ASD), intellectual disabilities, and
genetic disorders. She provides developmental follow up and medication
management for comorbid behavioral disorders for children into adulthood. Dr.
Charles has received research funding as the principal investigator, or
co-Investigator for a variety of grants exploring issues related to
developmental disabilities including investigating the prevalence of ASD and
Fragile X as part of the CDC’s Autism and Developmental Disabilities Monitoring
Network. (PAB term: 2020-2022)
Connect with Jane
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BRANDI WILSON
CANADA (ON)
My name is Brandi Wilson, I’m mom to three, Sid (11), Lilli (10, with SMS) and
Jack (9). I am married to my high school sweetheart, we’ve been together since
1999. Sid drives transport, so he is not home Monday through Friday, and I am an
Early Childhood Educator. Life with Lilli is challenging, especially when my
husband gone. My two sons step up and help as much as they can, they are
wonderful advocates for their sister. Despite the frustration they sometimes
feel towards situations they understand that it’s not their sister that does
those things, it is SMS.
We Live in Sault Ste Marie, Ontario, and I am a Regional Representative for
Canada. I’ve been a member of PRISMS since Lilli was diagnosed in April of 2009.
Getting her diagnosis was like an ah-ha moment, everything finally made sense.
She was born with heart defects, had surgery to correct them at five days old,
she missed all her milestones, and had failure to thrive, but we blamed her
heart surgery and recovery. She is now a busy, LOUD, lovable girl who will be in
grade 5 in a mainstream class with a 1:1 educational assistant.
Connect with Brandi
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DEBBIE BROOKS
CANADA (ON)
My name is Debbie Brooks. I am a teacher and a mother of two girls. My younger
daughter was diagnosed with SMS in 2016, just before her fourteenth birthday. As
soon as I received her daughter’s diagnosis, I read everything I could find
about SMS. I found the PRISMS website to be a great source of information. My
family, daughter’s grandparents and daughter’s school teacher were fortunate to
able to attend a PRISMS conference a few months after we receiving my daughter’s
diagnosis. I loved meeting other individuals with SMS and their families, and I
didn’t feel alone anymore.
As a teacher, I am familiar with IEPs and the IPRC process. Although my daughter
was not diagnosed until she was almost 14, I have been dealing with SMS for many
years has experience with a wide variety of community resources. I look forward
to sharing what I have learned through my own experiences with a special needs
child in Canada and meeting new families.
Connect with Debbie
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AMANDA DOWNEY
CANADA (BC,AB,SK,MB)
My name is Amanda Downey and I live in Fort McMurray, Alberta, Canada. I am a
PRISMS Regional Representative for Canada. My husband and I have been members of
PRISMS since we received our daughter’s diagnosis four years ago. I am a
freelance graphic designer and my husband, Brian, works in the oil industry. We
have three children, two boys 14 and 12 and a daughter, 10. Our daughter,
Finleigh, was diagnosed with Smith-Magenis Syndrome when she was six years old.
She loves taking things apart, her iPad, and all things pink and purple. You can
read more about me in my long neglected blog,
http://onedayatatime-am.blogspot.ca.
Connect with Amanda
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LAURIE BELLET
CA (SAN FRANCISCO)
My name is Laurie Bellet. My daughter, Ariel, was born in 1985 and has been
diagnosed with SMS. In 1995, I joined the PRISMS Board. Our family greatly
benefited from early SMS research. Ariel was one of the first confirmed with the
RAI1 deletion. Professional and personal connections through PRISMS have been
precious. I am a long-time teacher and have served as an IEP advocate for
several children in our SMS community both locally and long-distance. I am an
expert in navigating resources in northern California and connecting with
specialists who have SMS experience. I have also conferenced and facilitated
strategies and relationships with classroom teachers who are challenged by
students with SMS. Ariel has 2 older brothers, a niece, a nephew and a
boyfriend!
Connect with Laurie
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REMI ROBBINS,
PA
My name is Remi Robbins. I live in King of Prussia Pennsylvania, a few miles
west of Philadelphia, with my boyfriend Jordan and our greyhound General. My
younger sister Calli was born in 1998 and diagnosed with SMS in 1999. My parents
were lucky to find an incredible genetics counselor who properly diagnosed her
after many failed attempts by others, but adapting is an ongoing process. I have
spent 22 years of my life growing up with Calli and have learned so much and
continue to do so. She is funny, outgoing, affectionate, sometimes sassy, and
has numerous hobbies that she is passionate about. She has competed in the
Special Olympics held at Penn State, has graduated high school, and persistently
shares her positivity and resilience with everyone she meets. She is the light
of my life and inspires me to be patient, understanding, and to treat every
situation with love and kindness. I hope to make her as proud of me as I am of
her.
I am here to support anyone who needs a helping hand or a shoulder to cry on, to
provide insight and resources, and most importantly to spread and encourage love
and understanding.
Connect with Remi
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MANY SMS PATIENTS EXPERIENCE FREQUENT INFECTIONS BUT THE IMMUNOLOGICAL BASIS FOR
THIS PHENOMENON IS CURRENTLY UNCLEAR
At Abramson Research Center at The Children’s Hospital of Philadelphia (CHOP),
Dr. Neil Romberg is studying the immune systems of patients with SMS to 1)
describe what infections are most common, 2) detail if there is laboratory
evidence of immune deficiency, and 3) explore how deletions of 17p11.2 may
predispose SMS patients to infections.
If you would like to participate in research studies, please contact Dr. Romberg
via email at rombergn@email.chop.edu.
×
SMITH-MAGENIS SYNDROME IS A GENETIC DISORDER MOST COMMONLY CAUSED BY A DELETION
OF CHROMOSOME 17P11.2, AND LESS COMMONLY BY MUTATIONS IN THE RAI1 GENE
Ongoing projects in Dr. Sarah Elsea’s lab are focused on understanding the
function of the RAI1 gene. Previous studies in Dr. Elsea’s lab led to the
discovery that the RAI1 gene is responsible for most of the symptoms of SMS. The
precise function of the RAI1 gene, however, is not yet clear. Using cellular and
animal (mouse and zebrafish) models, researchers in Dr. Elsea’s lab are working
to better understand the role of RAI1 in development and behavior.
Other studies in Dr. Elsea’s lab are focused on analysis of sleep and eating
behaviors in individuals with SMS, with a particular interest in obesity and
growth-related problems, among others. For more information, contact Dr. Elsea
via email at sarah.elsea@bcm.edu
×
THE SMS IEP RESEARCH STUDY TEAM CONDUCTS RESEARCH IN THE DEPARTMENT OF SPEECH,
LANGUAGE, AND HEARING SCIENCES AT THE UNIVERSITY OF COLORADO BOULDER
The current study aims to gather and collect data from parents and IEPs in order
to better understand what speech-language services, therapies, and treatments
are being provided to children diagnosed with Smith-Magenis Syndrome (SMS) at
various schools across the nation.
WHO IS INVITED TO PARTICIPATE?
We are looking for parents of children with a confirmed diagnosis of SMS.
WHAT TO EXPECT:
Participants who decide to participate will be asked to:
* Complete a survey pertaining to your child’s speech-language services and
abilities
* Submit your child’s Individualized Education Plan (IEP)
If you are interested in learning more about the study and to see if your child
is eligible to participate, please send an email
to sms.iepresearchstudy@gmail.com or call the Primary Investigator, Christine
Brennan, PhD, CCC-SLP, at 303-492-4736.
IRB # 16-0166
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GROWTH PATTERNS IN SMS
NIH is working with PRISMS to develop syndrome specific growth curves for SMS.
Data gathered to date on 68 children with SMS show the following growth
patterns. Most infants with SMS are born at term and have normal birth
parameters for length, weight and head circumference.
During the first year of life, Infants with SMS show a decline in weight &
height from normal birth range to less than or equal to 5%tile;
By age 8-9 years, heights are within the normal range (approx 25%tile) and
weights are higher for boys than girls;
Weight gain to levels suggesting obesity (>95%tile) is frequently noted after
age 9 years with onset of puberty.
Additional growth data is needed to complete the project, especially for
children from age 4 years into their teens and final adult height. Parents
willing to provide growth measurements on their child with SMS (heights, weights
and if available head circumference) are encouraged to down load the SMS Growth
Curve form.
For more information contact:
Ann C.M. Smith, MA, DSc (Hon), Adjunct Principal Investigator
Office of Clinical Director, National Human Genome Research Institute, NIH
Bldg 10, Room 10C103, 10 Center Drive, MSC 1851
Bethesda, MD 20892-1851
Phone: 301-435-5475
Email: acmsmith@mail.nih.gov
×
DR. LAWRENCE T. REITER AT THE UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER IN
MEMPHIS, TN, IS CONDUCTING A RESEARCH STUDY TO DETERMINE IF NEURONS CAN BE GROWN
FROM THE DENTAL PULP OF INDIVIDUALS WITH VARIOUS NEUROGENETIC SYNDROMES
INCLUDING SMITH-MAGENIS SYNDROME
Participants will be required to submit a genetics report describing their
neurogenetic syndrome or control status. Dr. Reiter will provide a tube of cell
growth solution and a return package to you at no cost. You must acquire the
media for the tooth specimen ahead of time so that the tooth can be stored in
the media within 20-30 minutes of coming out of the mouth.
Should you agree to participate you will only need to provide a fresh tooth
specimen, most likely one that fell out on its own. Teeth must arrive at Dr.
Reiter’s laboratory no more than 48 hours after the time they came out of the
mouth and in the special media provided.
For more information on how to participate, please contact Dr. Reiter directly
by e-mail: lreiter@uthsc.edu.
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DO YOU HAVE A CHILD WITH SMITH-MAGENIS SYNDROME?
If yes, please consider helping us in important research on microdeletion
syndromes. Microdeletion syndromes are genetic conditions caused by a deletion
of a part of a chromosome. For example, SMS is caused by a deletion on
chromosome 17. Natera is a genetic testing lab that is developing a non-invasive
prenatal screening test (done on a sample of mother’s blood during pregnancy)
for specific microdeletions including those that cause Smith-Magenis syndrome.
We are requesting blood samples from children or adults with Smith-Magenis
syndrome and their parents; these samples will help us in the research needed to
develop this screening test. If you would like to participate, we are asking for
the following:
* A copy of your child’s microarray results confirming the presence of the SMS
microdeletion
* Blood samples on yourself and your child (and your child’s father, if
available)
You will be compensated $100 each for your participation and $50 for your
child’s participation. It’s only with help from families like yours that earlier
diagnosis can become a reality.
Call research at Natera at 877-476-4743, x446, or email research@natera.com if
you are interested and would like to know more.
View Clinical Study
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LEAH BAIGELL
CT, RI, MA, VT, NH, ME
My name is Leah Baigell, I live in Massachusetts and represent PRISMS as a
Regional Representative covering Connecticut, Maine, Massachusetts, New
Hampshire, Rhode Island, and Vermont. I’ve been involved with PRISMS since 2007,
when my son Zach (1992) was first diagnosed with SMS. Most recently, I worked
with several other’s on PRISMS residential guidebook that was presented at the
Summer 2016 PRISMS conference. (It can be downloaded at no cost on prisms.org).
For work, I lead sibling support groups for families who have children on
psychiatric units, talking mainly about the challenges the siblings at home
face. I have two children – Zach, who is 25 and has SMS, spent many years at
residential schools before moving into a group home at 22, and Max who is 28 and
is a Speech & Language Pathologist working with middle school kids who have
developmental delays and behavioral challenges. My husband, Henry, is in
software development and taught Zach much about computers. As a family we enjoy
biking, nature walks, and playing in the ocean.
Connect with Leah
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JUDY BOGDAN
NY
My name is Judy Bogden, and I am the Regional Representative for New York. I
found out about PRISMS through my niece who had a son that was diagnosed with
SMS and ever since then I have been involved with PRISMS. My personal goal is to
connect others in my area to families that are going through the same trials and
celebrations with their SMS family members. What impressed me most about PRISMS
is the family atmosphere. While I don’t have a child with SMS myself, I am aware
of what is involved through association with my niece and great nephew and am
happy to be your liaison to others nearby that can offer assistance.
Connect with Judy
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MARY HARDS
OH, WV, MI
My name is Mary Hards. I have been a member of PRISMS for the past 8 years. I
found out that my son had Smith Magenis Syndrome when he was 4 years old. Then
after he was diagnosed, we learned about the organization, PRISMS. Within a few
months, we went to a conference and learned so many things we didn’t know. We
were so overwhelmed with the friendliness of all the families. I wanted to be
part of this great group and help spread awareness of my sons syndrome. My hope
of being a representative is to help other families feel as welcome to be part
of our PRISMS family as I did. My SMSer has been a lot of hard work. He has had
lots of behavior and medical problems. The one thing about being in a group like
this is that you can always find someone to understand what you are going
through.
Connect with Mary
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DENIEN RASMUSSEN
IL
My name is Denien Rasmussen, and I am a Regional Representative for PRISMS as
well as a SMS mom and PRISMS Board Member.
I live with my husband Jim and my twin 14yr old boys. My SMS’er is Matthew and
his brother is Michael. We live in Palatine Illinois which is about 30 miles
northwest of Chicago. I work full time as the Chief Compliance officer and
Operating Officer of RW Smith & Associates, LLC. I have been with RW Smith for
over 33 years.
My son Matthew was diagnosed when he was 4 ½ and it was the most overwhelming
and devastating news we have ever encountered. I had nowhere to turn. Luckily
for me my pediatrician sent me to the PRISMS website. I have been a member ever
since and feel blessed to be part of a great organization with amazing parents.
The purpose of the regional rep program is to help educate families with
children who have SMS about… well, about everything they need to know about SMS.
Please send me an email or give me a call at 847 571-7739, and I will do my best
to help you.
Connect with Denien
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HEIDI GRAF
ND, SD, MN
I am mother to Liam, who is now 17. A big celebration is just around the corner
as we look forward to celebrating Liam’s 18th birthday on March 18th in 2018!!
Liam was diagnosed with Smith Magenis Syndrome at 14 months following a history
of failure to thrive. He continued in home physical, speech and occupational
therapy through our district’s Early Childhood Education program until he was 5
years old. Liam attended “school” two days a week in the mornings from age
3-5. Liam’s elementary education was exemplary as the school adopted a campus
wide behavioral approach to Liam which allowed him the same access to school
resources as every other student. Liam’s aggressive behaviors increase through
out 6 and 7th grade when he transferred to a Level 4 educational
setting. Although the loss of his peers was truly sorrowful, he has thrived in
his current educational setting. We are currently planning his last three
transitional years of public education.
I have been a single parent to Liam for 14 years. He has an older sister, Eva,
who is currently completing her senior year in college with a major in
Microbiology. We are eagerly waiting for Eva’s acceptance into a Master’s
Program for Occupational Therapy. I am in my 12th year of working in the field
of special education. After completing graduate course work and passing exams at
the PhD level in Intercultural Communication, I transferred my studies to obtain
a teaching license in special education. For the past six years, I have been a
special education teacher and supported students who live and learn with Autism
Spectrum Disorder grades 9-12.
I am happy to provide newly diagnosed parents with a resource for both
compassion and educational advice and resources. I remain optimistic about
Liam’s future and am looking forward to the day he fully steps into his own
independent adult life (with support of course!).
Connect with Heidi
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ANNETTA ZIDZIK
MO, OK, AR, KS
My name is Annetta Zidzik ,and I am a Regional Representative for MO, OK, AR,
and KS. I have been a PRISMS member for 4 years. I live in St. Louis, Missouri
with my husband George, and our blended family, my daughter Alexa, age 18, my
son Austin, age 14, and my step-son Bo, age 12. Alexa was diagnosed with SMS at
age 13 so I am still learning and absorbing all I can. I work full time as a
Physical Therapist Assistant on an orthopedic surgery floor. My career in
therapy these past 23 years certainly gave me a unique perspective during
Alexa’s early life, since we had no diagnosis. I have loved getting connected
through Prisms and finally meeting other families who understand.
Connect with Annetta
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JENNIFER KLUMP
OR, ID, NV
My name is Jennifer Klump. I live in Aloha, a suburb of Portland, Oregon, and
represent families in Oregon, Idaho, and Nevada. I have been a member of PRISMS
since 2009. My husband and I have our “one and only” child, Neal, who is ten
years old and has SMS. Neal is a very social, outgoing boy who loves to cook,
watch youtube videos of people playing Minecraft, make smoothies, spin his
fidget spinner on his nose, and swim, swim, swim. I am an educational librarian
at a non-profit company and have access to much research related to special
needs, which comes in handy! In my not-so-much spare time, I enjoy watching tv
shows on my kindle and reading. I love to meet new people in our area, so do
contact me, even if just to talk!
Connect with Jennifer
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ERIC AND KIM HOFFMAN
CO, WY, UT)
We are the Hoffmans. Eric, Kim and Lynette “Nettie”. We live in a northern
suburb of Denver Colorado. We are Regional Reps the states of Colorado, Wyoming
and Utah. We have been members of PRISMS for over 20 years. Nettie is our only
child and she has SMS. She was born in 1991 and we received our diagnosis of SMS
when she was 13 months old. The support we received from Maggie Miller and Ann
Smith when we received the diagnosis was extremely important to us. We met our
first SMS families in person in 1997 at National Institutes of Health before the
first SMS conference. We valued meeting other families that understood what we
were going thru so much that when we returned home we started our own local
support group with families in Colorado and Wyoming. We have attended every SMS
conference and enjoy meeting with other SMS families and talking with the SMS
professionals.
Connect with Eric & Kim
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ALEJANDRO AND DELMA AGUILAR
NM
My name is Alejandro and my wife is Delma. We have three girls: Delilah (our 9
year old SMSer), Micaela (7 years old), and Sarai (3 years old). We live in New
Mexico. My wife is an amazing homemaker who is active in the community and
schools. I work full time as an analyst for the US Government. We have been
members of PRISMS for 6 or 7 years (time sure does fly). Our Delilah has grown
tremendously over the past few years, thanks to all the help and services. She
reads at or above her grade level and is one of her favorite activities. She
does well at school and thanks to an amazing teacher and support staff at the
school. Her “outbursts” are saved for us at home (lucky us). The family has
adapted at working with/around her and we still have fun. We take trips several
times a year and they go fairly well. Lots of thinking and planning ahead of
time to make sure we have a way out of situations for Delilah and those around
her. Overall, the drawbacks of SMS have been hard but overtime and with lots of
advice from friends, our church, and family (blood and SMS community) we feel
like we live a typical (yet exciting) life.
Connect with Alejandro and Delma
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MARY BEALL
TX
Hi, I’m Mary Beall, mother to Laura who has SMS. We are in the Texas region.
Laura was born in 1985, and we got a diagnosis when she was 12. PRISMS became
our lifeline at that time, and we have been active members for twenty years. My
husband, Randy, is the former President of the PRISMS board. Laura is
affectionate, outgoing, and funny. She loves the Dallas cowboys, license plates,
and music. She has a sister and brother-in- law who live in Denver, Colorado.
Connect with Mary
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JENNIFER COMFORD
TX
My name is Jennifer Comford, and I am a Regional Representative for TX. I have a
daughter Caroline, age 18, who was diagnosed with Smith-Magenis Syndrome at 15
days old. We have affiliated with of PRISMS since 1999.
By attending most of the conferences since Caroline’s diagnosis, we have been
much more equipped to advocate for our child. We learned how to be a strong
advocate for Caroline by using techniques taught at PRISMS conferences.
Everything from IEPS to Medicaid waivers and most recently were able to navigate
the guardianship process all due to information we learned from the conferences.
As your Regional Representative, I’m happy to be a listening ear (the numbness
that comes with receiving the diagnosis I remember all too well), I’m very well
versed in advocating for children in the school systems. I even took a course
about dealing with a child on an IEP when you are a military family and your
child attends DoD schools. Because we were a military family I have dealt with
school systems in multiple states and I know how each system can vary widely but
the IDEA is the IDEA and that applies nationwide and the law is on our kid’s
side. I have learned how to seek out and tap into different area resources. I’m
very familiar with services that would be beneficial for military families as
well. I look forward to helping you navigate Smith-Magenis Syndrome and am happy
to answer your questions
Connect with Jennifer
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CHARLENE LIAO
CALIFORNIA (PALO ALTO)
I am Charlene Liao, Ph.D. training in molecular biology and immunology. I live
in San Francisco Bay Area in Northern California. I have been with PRISMS for
over 17 years and served as PRISMS Board Member for a period of time. My
daughter Connie was diagnosed with SMS when she was 6 years old, even though we
knew there was something unusual about her since she was born and despite having
best access to doctors and specialists at UCSF and Stanford. She now goes to an
adult day program. My husband is a professor at Stanford who together with his
students have made significant progress in understanding the neurological
abnormalities associated with SMS through studies in mice. Both of us are
involved with the PRISMS Research Roundtable and SMS Research Foundation to some
extent.
Connect with Charlene
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DIANE ERTH
CALIFORNIA (SAN DIEGO)
My name is Diane Erth, and I am the San Diego Regional Representative for PRISMS
as well as a newly appointed PRISMS Board Member. I live in San Diego, Ca with
my husband, Joe, and my 8 year old son, Max. I am a Stay at Home Mom but I feel
I deserve a more elaborate title as I find myself wearing many hats and often
several at the same time.
Max was diagnosed with Smith-Magenis Syndrome at just 30 days old. We did a lot
of research online and found PRISMS. We reached out to the then President and
were able to ask questions about his daughter. It was good to talk to another
parent about our concerns.
I have made it a personal goal to welcome and offer support to all SMS families
and to be available to answer questions and help the newly diagnosed families.
Sometimes, venting to another SMS parent is what is needed. While I’m no pro, I
do have knowledge of the services available in my area and am happy to help
others get the support that they need in raising a child with SMS.
Please feel free to call or email me if you need anything. I can’t promise I
have all the answers, in fact, I CAN promise that I don’t, but I am ready and
willing to help other families on this wild journey called SMS.
Connect with Diane
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SHEILA HERNDANDEZ-VALE
PUERTO RICO
Hello! My name is Sheila Hernandez and I am happy to be your Regional
Representative for Puerto Rico and Caribbean, also Spanish communities and
cities.
My son, Joaquin Rodrigo Gonzales, was diagnosed with SMS at age two and is now
five years old. PRISMS is the first website that we looked at when we received
his diagnosis. The information shared on the website and newsletter has been
most helpful. We appreciated the support we received and as a result, I decided
to be a representative a year ago.
My goal is to support the families when that have a SMS diagnosis and to create
a network that will enable us to meet and discuss experiences regarding
therapist, local Department of Special Education, and to share the medical
specialists that we currently use for Joaquin. I feel that it is important for
us to be able to talk, listen and learn together as a SMS family.
Connect with Sheila
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MARIA ELENA CARRANCEDO
MEXICO
Hi my name is Maria Elena Carrancedo. I’m the regional representative of Mexico.
I have been a member of PRISMS for around 10 years. I have a daughter with SMS,
her name is Mariel and she is 18. She was diagnosed when she was 2 years old. I
have another daughter who is 16. We live in Mexico City.
Connect with Maria
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ELIANE BARROS
BRAZIL
We are a Family from Brazil, specifically Rio de Janeiro. My name is Eliane and
I’m Lucas’ mother. Lucas has a sister, Barbara, and a stepfather, Tiago. We also
have a dog called Dom.
In 2012, Lucas was diagnosed with SMS and we became a member of PRISMS. Even
being from Brazil, PRISMS was the first one who taught us about the syndrome and
who gave us support in the first moment showing us all the happiness that our
children give us. Luke brought to our lives values, discoveries, joys and made
us strong people. Our days are like a roller coaster, some days are calm, but
other are hurricanes. We are learning continuously.
Therapies, regular school with inclusion and special school are part of our
routine. We need to reconcile our work with personal life. Often going to work
without sleep … Melatonin has helped a lot. I am an engineer and my husband is a
teacher.
Our daughter would like to do oceanography. And our dear Lucas would like to be
a Fireman as he always says! Lucas is outstanding. Observer and intelligent. And
with a big sense of humor. He loves music and dance, but often has explosions
that make us very sad. I hope these explosions could stop one day. He is 8 years
old and likes Angry Birds, Avengers and birthday parties. Now, I cannot imagine
our lives without Lucas. Each of us have so much love for him!
He teaches us every day with his innocence and unconditional love.
I’m thankful for being part of SMS family and PRISMS member.
Connect with Eliane
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SABRINA BISIANI
ITALY
My name is Sabrina Bisiani. I live in Italy and I’m the President of the Smith
Magenis Italia Association. Prisms was my first contact at the moment of
diagnose of my little child Federico. We were completely alone and Prisms gave
us all the support and information about the Syndrome. After 5 years and a very
good job for raising the SMS awareness, 80 families with SMS diagnosed children
and young adults have joined our group. A big result thinking about the fact
that all of us have thought to be alone in Italy.
Sabrina
Connect with Sabrina
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A NEW CLINICAL STUDY IS INVESTIGATING CIRCADIAN RHYTHMS AND SLEEP DISTURBANCES
IN PEOPLE WITH SMITH-MAGENIS SYNDROME TO GUIDE THE DEVELOPMENT OF A POSSIBLE
TREATMENT.
YOUR CHILD OR DEPENDENT MAY QUALIFY IF:
* they have Smith-Magenis Syndrome
* they have sleeping problems
Qualified individuals will be compensated for their time and effort.
Transportation will be provided at no cost. For more information
contact SMStrials@vandapharma.com or call toll-free: 844-366-2424.
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ALLISON LEATZOW
FL
My name is Allison Leatzow. I live in Tallahassee, FL. My son Andrew was
diagnosed with SMS in Fall of 2013 with the mutation version of SMS. After Andy
was diagnosed, we went online, as everyone does, to get more information. We
found the PRISMS site and immediately signed up to become members. It answered
many questions and confirmed suspicions we had all along. We called and spoke
with May and Randy Beall (former President of PRISMS) the next day and were able
to get even more information and offers of others to connect with who had
similar experiences as our son. Not long after Andy was diagnosed, we were in
crisis and had to place him in our hospital’s psychiatric facility for nearly
three days.
We had just received our PRISMS membership packet, and I was able to bring it to
the hospital for the medical staff to read and better understand his condition.
Without PRISMS, we would not have felt as accepted as we do and have resources
at our fingertips.
Connect with Allison
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KEVIN O’CONNOR
IL
My name is Kevin O’Connor. I am a Regional Representative for IL. My son Deane,
with SMS, was diagnosed at 17 months. He is now 27.
I have been affiliated with PRISMS from almost the beginning. Deane and I
attended the first PRISMS conference in Bethesda, MD in 1994, and we have
attended every PRISMS conference since and presented often.
PRISMS has served as an important source of information on development, coping,
and research for Deane, my family and myself. It’s very helpful to understand
what similar challenges and successes other parents are experiencing so that we
can build on successes and avoid, if possible, pot holes. Parent sharing of
experience is key.
I would like to share Deane’s successes and challenges both current and
historic. I believe that small group or 1-on-1 meetings between parents and
between SMS individuals helps to build strong relationships and facilitates
information sharing. I especially would like to help accelerate access to useful
knowledge for parents of newly diagnosed SMS children.
Connect with Kevin
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BERNADETTE HUSTON
IA, MO, OK, AR, KS
My name is Bernadette Huston. My husband, Percy Huston, is currently serving on
the PRISMS Board. Our daughter is Jacqueline and she turned 27 in 2018. We have
been a part of the PRISMS community since Jacqueline’s diagnosis when she was
13. I have had the pleasure of speaking at two conferences.
PRISMS has personally helped our family by being a resource for school,
guardianship, health issues, education, and IEP, friendships with other parents
that have SMS children, empathy and support from other SMS families. In
addition, the PRISMS International Conference has provided the opportunity to
meet other parents of SMS children and compare notes, tactics that work with
discipline and life. I look forward to having regional gatherings with other
local families. In the past, we have hosted two PRISMS walks and other SMS
families have attended. We would love to see more SMS families join in the
activity as it is fun for the whole family.
As your regional representative, I will do my best to provide you with helpful
resources and create a support group to help families know that they are not
alone.
Connect with Bernadette
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BROOKE WIDMER
IN
My name is Brooke Widmer. My son Judah was diagnosed in 2013 when he was 18
months old. We have been affiliated with PRISMS for 2 years. When we first
learned about Judah’s diagnosis, we google searched SMS and were lead to the
PRISMS website. We found this website to be the most informational. In the midst
of hearing this difficult diagnosis, the website seemed to be positive and
encouraging.
The conference was an extremely beneficial experience as we left with a lot of
new information. Mostly, it was nice for us to meet families on the same
journey. We continue to stay in contact with a few of the families. I am here to
listen. I know how devastating getting this diagnosis can be, especially when
you have never heard of SMS and others around you have not heard of it either. I
am here to support you.
Connect with Brooke
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MAUREEN MONROE
WA, MT
My name is Maureen Monroe, and I live in Bellingham, WA. My son, Jim, is 29
years old and was diagnosed in July of 2012 at the University of Washington
Genetics Clinic after being hospitalized for Congestive Heart Failure. He was 23
years old then. When I received the genetic diagnosis of SMS, I immediately
contacted, Randy Beall (former President of PRISMS). I then attended the 2016
PRISMS conference in St. Louis, MO. PRISMS has answered many unknown questions
regarding SMS for me and my family.
I was pleased to finally know why my son was struggling with behaviors and sleep
deprivation. I was able to share with doctors, teachers, caregivers, and family
the information from the PRISMS website. Because of an article written in The
ARC of Whatcom County newsletter, which highlighted the diagnosis of our son,
another local family contacted me with concern that her son may have the same
diagnosis. The result was that he was diagnosed with SMS, and we have become
very good friends. This family lives just 15 minutes from my home.
As an advocate and volunteer with The ARC, I continue to encourage families to
attend support groups and to share their journey. It is also important for me to
support siblings of family members with SMS providing events and programs that
validate their experiences with an SMS sibling. I am hopeful to coordinate
picnics and meet-ups with local families. I enjoy seeing the younger families on
Facebook and hearing their successes.
Connect with Maureen
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TREVOR GRITMAN
CA (LAKESIDE)
My name is Trevor Gritman. My son is Boston, and he is 7 years old! He was
diagnosed with SMS at 10 months old. We have been affiliated with PRISMS for
about 6 years, shortly after his diagnosis. When we attended the 2012
International Conference in Colorado, we found it to be a wonderful resources as
it provided us much of the information that we could not find anywhere else. We
felt lost until we found PRISMS. When thinking about being a representative, I
noticed that there were not many SMS dads volunteering and feel that my
perspective might be received well by fathers of newly diagnosed children.
Connect with Trevor
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CALLY BAUMAN
AUSTRALIA/NEW ZEALAND
My name is Cally Bauman and I am a regional representative for both Australia
and New Zealand. My daughter, Amélie is 14 years old and was diagnosed with the
deletion form of SMS, when she was 3 years old. I have been a member of PRISMS
since 2009 and a regional representative since 2014. I am also the chairperson
for Smith-Magenis Syndrome Australia (http://smsaustralia.org.au), an
international partner of PRISMS.
PRISMS has enabled the connection of our family to an international community of
families and specialists and provided us with an invaluable wealth of
information which aids us in understanding our ‘SMS journey’. It is my hope as a
regional representative to assist local families to build connection and locate
resources and support close to them (e.g. navigating the NDIS, Camp Breakaway
etc.).
Please connect with me if you are looking for information, interaction with
other families or would just appreciate an understanding ear!
Connect with Cally
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BRIANNA RYCZEK
WI
My name is Brianna Ryczek. My sister, Amber Collins, is my connection to SMS.
Amber is a beautiful young lady now in her twenties. She is a wonderful aunty to
my son and they spend a lot of time together. Our family is located about 30
miles north of Green Bay, Wisconsin and I have been a member of PRISMS for a few
years. It helps our family in difficult times to see others who can relate to
SMS from across the world! Amber is an avid member of Facebook and loves to
write to others (some of it may be jibberish) and would love additional friends,
so let me know if your interested. She also enjoys video chats. As far as
information about myself, I simply love my sister so much and want to help
others in this community. I encourage others to reach out and make connections
and would be happy to help!
Connect with Brianna
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CARISSA LE
MN
My name is Carissa Le, from Lakeville, MN (30 miles south of the Twin Cities).
My daughter, Scarlet, is 10 years old. She was diagnosed at 16 months in
September of 2008. I’ve been a member of PRISMS for a few years and have
attended the last 2 international conferences. When my daughter tested for SMS,
my mom found the PRISMS website and shared it with me. My jaw dropped as I found
“twins” from all over the world in pictures on the site. I knew SMS was the
diagnosis before the testing was even complete. I’ve used the website and those
I’ve met through online boards to help me as questions arise. I can be of
assistance to others in my area by leading them to www.prisms.org, giving them
pamphlets and other literature, and hosting get-togethers.
Connect with Carissa
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OSMAN UMARJI
SOUTHERN CA
I am Osman Umarji and I represent Southern California (Orange County). My son,
Malik, is currently 6 and was diagnosed at age 3. We have been affiliated with
PRISMS since we received the diagnosis. PRISMS has helped our family in so many
ways. It has provided our family with many great educational resources (website
and conferences) to help us to better understand SMS for ourselves and education
our family, friends, and Malik’s teachers. Furthermore, PRISMS has helped us
connect with many other SMS families, which has helped us learn about different
medical, educational and social programs that Malik has benefited from.
Connecting with other families also gives us comfort in knowing that there are
amazing families who are ready to help us at any moment. I am happy to be of
service in helping parents with a young child with SMS. In particular, issues
related to preschool and elementary school education are an are of strength of
me, including finding extracurricular activities for SMS kids.
Connect with Osman
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CALLIHAN MARSHALL
NY
Callihan joined the PRISMS team as a Regional Representative for New York in
September 2018. She’s very familiar with Smith-Magenis Syndrome. Her older
sister, Briahna who is 28, was diagnosed with the disorder at 11 years old.
Callihan and her family then turned to PRISMS conferences to get a quick
education so they could mold their life to best fit Briahna’s needs. Conferences
showed them that they weren’t alone in the world when it came to seeking help,
so Bri could live the best life possible.
17 years later, they still go to conferences to make sure they’re up to date on
any new developments. Callihan has been a caretaker for her sister since age 12.
Bri went to her prom, she also went up to her college and stayed in the dorms.
It’s very important to Callihan that her sister gets to experience the same joys
in life that she does. Callihan has 26 years of experience growing up with her
sister. She knows her sister’s needs and she knows how to be her sister’s voice,
and she wants to do the same for other families in Central New York. She
received education through PRISMS, and she’s excited to share that experience
with families across her region.
Connect with Callihan
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Rhythm is currently recruiting for a Phase 2 clinical study of an
investigational therapy on reduction of weight and hunger in individuals with
Smith-Magenis Syndrome and rare genetic disorders of obesity.
The study is enrolling individuals:
* Age 6 years or older
* With a confirmed diagnosis of Smith-Magenis Syndrome
* With weight defined as
* BMI of ≥ 30 kg/m for individuals ≥ 16 years of age
* BMI of ≥ 95th percentile for individuals 6-16 years of age
Study participation includes:
* 6 visits to the study center over a period of ~28 weeks
* Daily study therapy administration during the treatment period (~16 weeks)
* Completion of daily questionnaires
* Medical examinations and safety monitoring (~once a month)
* Blood tests
If you are interesting in learning more, please email SMStrialinfo@rhythmtx.com
and please indicate the city, state, or country in which you reside.
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