PRISMS - Research Protocol Submission

Andrea Gropman, MD, FAAP, FACMG, FANA, FCNS
Professional Advisory Board

St Jude Children’s Hopsital, Memphis, TN

Andrea Gropman is a child neurologist and clinical and biochemical geneticist at St Jude Children’s Research Hospital in Memphis, TN, where she is the director of the newly established Neurometabolic Translational Research Program within the Center for Experimental Neurotherapeutics. Dr. Gropman is Principal 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.

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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 Senior Managing Director at Wellington Management in Boston, MA. He and his wife, Laura Staich, live in Brookline, MA with their son Griffin (19, SMS) and daughter, Arden (15).

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Esteban Delgadillo
WA

My name is Esteban Delgadillo and I am the father of Javi, a 20 year old with SMS. We found out that he was diagnosed with SMS at 4 years old. We have learned a lot and made some mistakes along the way but overall, he has turned out to be a great son, brother, and recently an uncle. We also have 4 other daughters, two older than him and two younger than him. My eldest daughter is also a regional representative for Washington and lives in the Spokane area. We’ve come a long way from where we started and have some experiences to share. Javi is involved in a lot of Special Olympics and other school activities. I hope to be able to help other families that may have questions or just need to be listened to or to connect with resources. I also am open to learning some new things too! We aren’t done with the journey, just in a different season.

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Brenda Dickerson
TX

Colby was born full term but at 2 weeks old I started noticing that he had some challenges. After a long ten months he was finally diagnosed with SMS. The doctor called and told me over the phone, and he said, “Do not google it, wait for the appointment with the Geneticist”. I of course googled it after crying all the way home. I stumbled on many articles that were frightening but eventually landed on the PRISMS website. I received an email from them fairly quickly and was put in touch with a local family. I will never forget meeting a then 16-year-old boy. To this day we are still in contact with the young man.

Colby has had many challenges over the last 18 years. Behavioral challenges that have come and gone at various times of his short life. Health challenges that he has overcome.

Colby is now in the vocational program at our local school district where he is training to have success at a day program and life skills.

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Lori Martin
Alaska, Nevada 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.

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Rao Sankar
Singapore

My name is Rao, and I am honored to serve as the regional representative for Singapore. I am also a proud father to my 7-year-old daughter, Geethika, who was diagnosed with the deletion form of Smith-Magenis Syndrome (SMS) at the age of 5.

When Geethika was first diagnosed, we found that her symptoms closely matched those documented in the PRISMS guide for newly diagnosed individuals with SMS. Our journey began with a referral from the doctor who diagnosed Geethika, leading us to PRISMS, where we found invaluable resources and guidance.

I have been a member of PRISMS since 2022, actively following updates and references provided by the organization. I have also registered Geethika in the SMS Patient Registry Portal, where I contribute updates to support ongoing research and the search for potential treatments.

Being part of the PRISMS community has been incredibly enriching, allowing me to learn from and share experiences with other families. I am committed to supporting families in the APAC region who are navigating life with SMS.

Please feel free to connect with me if you need information or simply want to chat and learn more about SMS. I understand the challenges that come with a rare syndrome diagnosis, and I am here to offer support and share the wealth of information and resources available through PRISMS.

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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.

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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.

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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.

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Martina Vit
VA

Hello! My name is Martina Vit. I am excited to be here as a new Regional Representative for PRISMS. I am also a proud SMS mom to my 27-year-old daughter Emari.
My husband Miguel and I are originally from Michigan. Go blue! We moved to Springfield, VA in 2021, We are empty nesters and a blended family with four adult daughters, including Emari, as well as three grandkids. (Yes, finding love with a partner who accepts all things SMS is possible!)
We are celebrating the one-year anniversary of Emari living in a group home here in Springfield as of August 2024. It was a rough and emotional journey to get there, though we are happy with the outcome. I am happy to share about our transition if it can help others.
I work full time as a teacher and part time as a therapist. My husband is a facilities manager at a senior living facility. We enjoy exploring new places, Topgolf, and traveling.
Emari was diagnosed when she was in 1st grade. This was a difficult time as I was a single mom parenting three little girls. Times were different, and I blamed myself for many of the challenges we experienced. The diagnosis was almost a relief as I could finally understand and explain to others the cause behind major behavior challenges and developmental delays. I am thankful to PRISMS for providing guidance and support.

The purpose of the regional rep program is to help educate and connect families with children who have SMS. I look forward to building connection and serving as a resource. Please send me an email and I will do my best to help you.

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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 is a grandmother of two and loves spending time with her grandsons whenever possible. She enjoys her time with family and friends and likes to cook, entertain, read, golf and travel.

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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.

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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

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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.

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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.

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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!

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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.

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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! 

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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!

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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.

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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.

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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.

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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.

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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.

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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. 

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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.

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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.

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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.

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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!

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Sinan Omer Turnacioglu, MD