The purpose of this study is to develop and validate a disease-specific, observer-reported outcome measure for clinical trials of patients with the following Neurodevelopmental Disorders (NDDs): SYNGAP1 and RAI1 deficiencies (such as SMS), and Fragile X Syndrome. The study is being conducted in multiple phases.
For more information, please click on the info graphic below to open an information sheet for this study and to learn more about how you can participate in this study.
Eric RogersEric 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.
Ana WitherspoonMy 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!
Roxana DraganMy 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, 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.
Allison StephanoukAllison 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.
Michelle LarscheidMichelle 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.
Sinan Omer Turnacioglu, MDSinan 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.
Christopher Vlangos PhD, FACMGDr. 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.
Cora Taylor, PhDDr. 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.
John Berens, MD, FAAP, FACPJohn 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.
Amy PereiraAmy 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.
Rachel Franciskovich, MS, CGCRachel 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.
Santhosh Girirajan, MBBS, PhDPennsylvania 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.
Rebecca Foster, PhDSt. 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.
Nancy Raitano, PhDNancy 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.
Christine Brennan, PhD CCC-SLPUniversity 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.
Andrea Gropman, MDChildren’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.
Kerry Boyd, MD, FRCPCMcMaster 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.
Barbara Haas-Givler, MEd, BCBAGeisinger’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.
Ann C.M. Smith, MA, DSc (Hon), CGCNational 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.
Sarah Elsea, PhDDr. 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.
Glen & Kristine Braden
John RoseboroughMy 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!
Barclay DaranyiAs 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.
Ashton CharmaineMy 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.
Carissa LeI’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.
Rhonda LowneyI 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!
Ron DixonMy 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.
Maria FeaginMy 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.
Caitlin SeldonMy 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!
Julia HetheringtonMy 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.
Liz and Bill YatesWe 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.
Tracie BelcherMy 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.
Rhonda FranklinI 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!!
Marni RolstonMy 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.
Michele ZdanowskiMy 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.
Theresa & Mark SmythWe 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.
Mick PearsonMick 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.
Abby BellMy 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!
Heather BoneyMy 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.
Bela Kafengauz & Alexander TzetlinWe 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.
Kevin DalyHi! 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.
Phil RuediPhil 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).
Brandon DanielBrandon 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.
Denien RasmussenDenien 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.
Jackie FallensteinJackie 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.
Percy HustonPercy 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.
Lynda KilianLynda 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.
Diane ErthDiane 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.
Theresa Wilson, MS, RDTheresa 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.
Margaret MillerMargaret 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.
Jason MichaudJason 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.
Michelle LeeMichelle 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.
Michelle LarscheidMichelle 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.
Jill WoodJill 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.
Natasha SchallerMy 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.
Kim WirthMy 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.
Jane Charles, MDMedical 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)
Randi TanenbaumMy 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 too 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.
Brandi WilsonMy 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.
Debbie BrooksMy 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.
Amanda DowneyMy 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.
Laurie BelletMy 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!
Remi Robbins,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.
Many SMS patients experience frequent infections but the immunological basis for this phenomenon is currently unclearAt 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 geneOngoing 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 BoulderThe 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.
We are looking for parents of children with a confirmed diagnosis of SMS.
Participants who decide to participate will be asked to:
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
Growth Patterns in SMSNIH 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.
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:
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.
Leah BaigellMy 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.
Judy BogdanMy 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.
Mary HardsMy 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.
Denien RasmussenMy 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.
Heidi GrafI 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!).
Annetta ZidzikMy 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.
Jean BishopMy 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!
Jennifer KlumpMy 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!
Eric and Kim HoffmanWe 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.
Alejandro and Delma AguilarMy 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.
Mary BeallHi, 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.
Jennifer ComfordMy 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
Charlene LiaoI 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.
Diane ErthMy 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.
Sheila Herndandez-ValeHello! 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.
Maria Elena CarrancedoHi 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.
Eliane BarrosWe 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.
Sabrina BisianiMy 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
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.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.
Allison LeatzowMy 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.
Kevin O’ConnorMy 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.
Bernadette HustonMy 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.
Brooke WidmerMy 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.
Maureen MonroeMy 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.
Trevor GritmanMy 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.
Patty LoyerMy name is Patty Loyer. I moved to AZ from NC in 1996. My son, Joey, 17 years old, was diagnosed at 10 months old. I have been affiliated with PRISMS for nearly 15 years. 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, gifted endorsement and 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.
Cally BaumanMy 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!
Brianna RyczekMy 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!
Carissa LeMy 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.
Osman UmarjiI 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.
Callihan MarshallCallihan 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.