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, 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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Michelle is the Event and Community Engagement Manager for PRISMS. She previously served part-time as Program Assistant and then as Program Coordinator. In this new role, Michelle will work closely with the Executive Director and PRISMS Board of Directors to build programs, host events, and strengthen the SMS community. Michelle has 30 years of marketing, public relations, and event planning experience. Michelle is a native of Minnesota and recently moved with her family to Raleigh, NC, where she lives with her husband and three children. In her spare time, she enjoys thrift shopping, walking with her dog, volunteering, traveling, and spending time with family and friends.
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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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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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My name is Kim Wirth. I am the Regional Representative for Louisiana and Mississippi. My daughter Evelyn was born in New Orleans in 1999. She received her SMS Mutation diagnosis in Texas at the age of 18. A few months after diagnosis, she moved into a group home and lived there for nearly 4 years. In January 2022 she moved home to Louisiana. Since moving home, Evelyn has reconnected with family, made many new friends, and joined the Happy Bowlers and Able Club social groups. She enjoys cooking, coffee, bowling, puzzles, and caring for our animals.
We attended our first conference in August 2022. What a wonderful experience! We connected with other SMS families, learned about the latest research, and found an incredibly supportive community. The best part of the conference was meeting wonderful, older SMSers who shared Evelyn’s zest for life. Our SMS journey has been filled with so many incredible experiences. Evelyn’s sense of humor keeps us all laughing. I could write a book filled with both joyful stories and challenges we have faced.
As a Regional Representative, I hope to support other families as they navigate the SMS diagnosis. SMS can be consuming and isolating. Developing a connection with others who understand your situation is priceless. I hope to help organize local gatherings and encourage family connections.
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Medical University of South Carolina, Charleston, SC
Dr. Jane Charles is a Developmental-Behavioral Pediatrician in the Departmentof Pediatrics, Division of Developmental-Behavioral Pediatrics at the Medical University of South Carolina in Charleston, SC. Dr. Charles is an active clinician, researcher, and educator. Her areas of specialization are in the fields of Autism Spectrum Disorders (ASD), intellectual disabilities, and genetic disorders. She provides developmental follow up and medication management for comorbid behavioral disorders for children into adulthood. Dr. Charles has received research funding as the principal investigator, or co-Investigator for a variety of grants exploring issues related to developmental disabilities including investigating the prevalence of ASD and Fragile X as part of the CDC’s Autism and Developmental Disabilities Monitoring Network. (PAB term: 2020-2022)
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My name is Randi Tanenbaum from Manalapan, NJ. I am one of the Regional Representatives for New York and New Jersey. Our daughter Marnie, was born in 2016 and was diagnosed with SMS at 4 years of age. There are so many reasons why I feel compelled to represent PRISMS- when my family and I received our diagnosis the ONLY resource we had was PRISMS. The content from the site and the people we have spoken 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.
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My name is Ana Delgadillo, 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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My name is Brandi Wilson, I’m mom to three, Sid (11), Lilli (10, with SMS) and Jack (9). I am married to my high school sweetheart, we’ve been together since 1999. Sid drives transport, so he is not home Monday through Friday, and I am an Early Childhood Educator. Life with Lilli is challenging, especially when my husband gone. My two sons step up and help as much as they can, they are wonderful advocates for their sister. Despite the frustration they sometimes feel towards situations they understand that it’s not their sister that does those things, it is SMS.
We Live in Sault Ste Marie, Ontario, and I am a Regional Representative for Canada. I’ve been a member of PRISMS since Lilli was diagnosed in April of 2009. Getting her diagnosis was like an ah-ha moment, everything finally made sense. She was born with heart defects, had surgery to correct them at five days old, she missed all her milestones, and had failure to thrive, but we blamed her heart surgery and recovery. She is now a busy, LOUD, lovable girl who will be in grade 5 in a mainstream class with a 1:1 educational assistant.
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My name is Debbie Brooks. I am a teacher and a mother of two girls. My younger daughter was diagnosed with SMS in 2016, just before her fourteenth birthday. As soon as I received her daughter’s diagnosis, I read everything I could find about SMS. I found the PRISMS website to be a great source of information. My family, daughter’s grandparents and daughter’s school teacher were fortunate to able to attend a PRISMS conference a few months after we receiving my daughter’s diagnosis. I loved meeting other individuals with SMS and their families, and I didn’t feel alone anymore.
As a teacher, I am familiar with IEPs and the IPRC process. Although my daughter was not diagnosed until she was almost 14, I have been dealing with SMS for many years has experience with a wide variety of community resources. I look forward to sharing what I have learned through my own experiences with a special needs child in Canada and meeting new families.
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My name is Amanda Downey and I live in Fort McMurray, Alberta, Canada. I am a PRISMS Regional Representative for Canada. My husband and I have been members of PRISMS since we received our daughter’s diagnosis four years ago. I am a freelance graphic designer and my husband, Brian, works in the oil industry. We have three children, two boys 14 and 12 and a daughter, 10. Our daughter, Finleigh, was diagnosed with Smith-Magenis Syndrome when she was six years old. She loves taking things apart, her iPad, and all things pink and purple. You can read more about me in my long neglected blog, http://onedayatatime-am.blogspot.ca.
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My name is Laurie Bellet. My daughter, Ariel, was born in 1985 and has been diagnosed with SMS. In 1995, I joined the PRISMS Board. Our family greatly benefited from early SMS research. Ariel was one of the first confirmed with the RAI1 deletion. Professional and personal connections through PRISMS have been precious. I am a long-time teacher and have served as an IEP advocate for several children in our SMS community both locally and long-distance. I am an expert in navigating resources in northern California and connecting with specialists who have SMS experience. I have also conferenced and facilitated strategies and relationships with classroom teachers who are challenged by students with SMS. Ariel has 2 older brothers, a niece, a nephew and a boyfriend!
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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.
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At Abramson Research Center at The Children’s Hospital of Philadelphia (CHOP), Dr. Neil Romberg is studying the immune systems of patients with SMS to 1) describe what infections are most common, 2) detail if there is laboratory evidence of immune deficiency, and 3) explore how deletions of 17p11.2 may predispose SMS patients to infections.
If you would like to participate in research studies, please contact Dr. Romberg via email at email@example.com.
Ongoing projects in Dr. Sarah Elsea’s lab are focused on understanding the function of the RAI1 gene. Previous studies in Dr. Elsea’s lab led to the discovery that the RAI1 gene is responsible for most of the symptoms of SMS. The precise function of the RAI1 gene, however, is not yet clear. Using cellular and animal (mouse and zebrafish) models, researchers in Dr. Elsea’s lab are working to better understand the role of RAI1 in development and behavior.
Other studies in Dr. Elsea’s lab are focused on analysis of sleep and eating behaviors in individuals with SMS, with a particular interest in obesity and growth-related problems, among others. For more information, contact Dr. Elsea via email at firstname.lastname@example.org
The current study aims to gather and collect data from parents and IEPs in order to better understand what speech-language services, therapies, and treatments are being provided to children diagnosed with Smith-Magenis Syndrome (SMS) at various schools across the nation.
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 email@example.com or call the Primary Investigator, Christine Brennan, PhD, CCC-SLP, at 303-492-4736.
IRB # 16-0166
NIH is working with PRISMS to develop syndrome specific growth curves for SMS. Data gathered to date on 68 children with SMS show the following growth patterns. Most infants with SMS are born at term and have normal birth parameters for length, weight and head circumference.
During the first year of life, Infants with SMS show a decline in weight & height from normal birth range to less than or equal to 5%tile;
By age 8-9 years, heights are within the normal range (approx 25%tile) and weights are higher for boys than girls;
Weight gain to levels suggesting obesity (>95%tile) is frequently noted after age 9 years with onset of puberty.
Additional growth data is needed to complete the project, especially for children from age 4 years into their teens and final adult height. Parents willing to provide growth measurements on their child with SMS (heights, weights and if available head circumference) are encouraged to down load the SMS Growth Curve form.
For more information contact:
Ann C.M. Smith, MA, DSc (Hon), Adjunct Principal Investigator
Office of Clinical Director, National Human Genome Research Institute, NIH
Bldg 10, Room 10C103, 10 Center Drive, MSC 1851
Bethesda, MD 20892-1851
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: firstname.lastname@example.org.
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 email@example.com if you are interested and would like to know more.
View Clinical Study
My name is Leah Baigell, I live in Massachusetts and represent PRISMS as a Regional Representative covering Connecticut, Maine, Massachusetts, New Hampshire, Rhode Island, and Vermont. I’ve been involved with PRISMS since 2007, when my son Zach (1992) was first diagnosed with SMS. Most recently, I worked with several other’s on PRISMS residential guidebook that was presented at the Summer 2016 PRISMS conference. (It can be downloaded at no cost on prisms.org). For work, I lead sibling support groups for families who have children on psychiatric units, talking mainly about the challenges the siblings at home face. I have two children – Zach, who is 25 and has SMS, spent many years at residential schools before moving into a group home at 22, and Max who is 28 and is a Speech & Language Pathologist working with middle school kids who have developmental delays and behavioral challenges. My husband, Henry, is in software development and taught Zach much about computers. As a family we enjoy biking, nature walks, and playing in the ocean.
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My name is Judy Bogden, and I am the Regional Representative for New York. I found out about PRISMS through my niece who had a son that was diagnosed with SMS and ever since then I have been involved with PRISMS. My personal goal is to connect others in my area to families that are going through the same trials and celebrations with their SMS family members. What impressed me most about PRISMS is the family atmosphere. While I don’t have a child with SMS myself, I am aware of what is involved through association with my niece and great nephew and am happy to be your liaison to others nearby that can offer assistance.
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My name is Mary Hards. I have been a member of PRISMS for the past 8 years. I found out that my son had Smith Magenis Syndrome when he was 4 years old. Then after he was diagnosed, we learned about the organization, PRISMS. Within a few months, we went to a conference and learned so many things we didn’t know. We were so overwhelmed with the friendliness of all the families. I wanted to be part of this great group and help spread awareness of my sons syndrome. My hope of being a representative is to help other families feel as welcome to be part of our PRISMS family as I did. My SMSer has been a lot of hard work. He has had lots of behavior and medical problems. The one thing about being in a group like this is that you can always find someone to understand what you are going through.
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My name is Denien Rasmussen, and I am a Regional Representative for PRISMS as well as a SMS mom and PRISMS Board Member.
I live with my husband Jim and my twin 14yr old boys. My SMS’er is Matthew and his brother is Michael. We live in Palatine Illinois which is about 30 miles northwest of Chicago. I work full time as the Chief Compliance officer and Operating Officer of RW Smith & Associates, LLC. I have been with RW Smith for over 33 years.
My son Matthew was diagnosed when he was 4 ½ and it was the most overwhelming and devastating news we have ever encountered. I had nowhere to turn. Luckily for me my pediatrician sent me to the PRISMS website. I have been a member ever since and feel blessed to be part of a great organization with amazing parents.
The purpose of the regional rep program is to help educate families with children who have SMS about… well, about everything they need to know about SMS. Please send me an email or give me a call at 847 571-7739, and I will do my best to help you.
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I am mother to Liam, who is now 17. A big celebration is just around the corner as we look forward to celebrating Liam’s 18th birthday on March 18th in 2018!!
Liam was diagnosed with Smith Magenis Syndrome at 14 months following a history of failure to thrive. He continued in home physical, speech and occupational therapy through our district’s Early Childhood Education program until he was 5 years old. Liam attended “school” two days a week in the mornings from age 3-5. Liam’s elementary education was exemplary as the school adopted a campus wide behavioral approach to Liam which allowed him the same access to school resources as every other student. Liam’s aggressive behaviors increase through out 6 and 7th grade when he transferred to a Level 4 educational setting. Although the loss of his peers was truly sorrowful, he has thrived in his current educational setting. We are currently planning his last three transitional years of public education.
I have been a single parent to Liam for 14 years. He has an older sister, Eva, who is currently completing her senior year in college with a major in Microbiology. We are eagerly waiting for Eva’s acceptance into a Master’s Program for Occupational Therapy. I am in my 12th year of working in the field of special education. After completing graduate course work and passing exams at the PhD level in Intercultural Communication, I transferred my studies to obtain a teaching license in special education. For the past six years, I have been a special education teacher and supported students who live and learn with Autism Spectrum Disorder grades 9-12.
I am happy to provide newly diagnosed parents with a resource for both compassion and educational advice and resources. I remain optimistic about Liam’s future and am looking forward to the day he fully steps into his own independent adult life (with support of course!).
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My name is Annetta Zidzik ,and I am a Regional Representative for MO, OK, AR, and KS. I have been a PRISMS member for 4 years. I live in St. Louis, Missouri with my husband George, and our blended family, my daughter Alexa, age 18, my son Austin, age 14, and my step-son Bo, age 12. Alexa was diagnosed with SMS at age 13 so I am still learning and absorbing all I can. I work full time as a Physical Therapist Assistant on an orthopedic surgery floor. My career in therapy these past 23 years certainly gave me a unique perspective during Alexa’s early life, since we had no diagnosis. I have loved getting connected through Prisms and finally meeting other families who understand.
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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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My name is Jennifer Klump. I live in Aloha, a suburb of Portland, Oregon, and represent families in Oregon, Idaho, and Nevada. I have been a member of PRISMS since 2009. My husband and I have our “one and only” child, Neal, who is ten years old and has SMS. Neal is a very social, outgoing boy who loves to cook, watch youtube videos of people playing Minecraft, make smoothies, spin his fidget spinner on his nose, and swim, swim, swim. I am an educational librarian at a non-profit company and have access to much research related to special needs, which comes in handy! In my not-so-much spare time, I enjoy watching tv shows on my kindle and reading. I love to meet new people in our area, so do contact me, even if just to talk!
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We are the Hoffmans. Eric, Kim and Lynette “Nettie”. We live in a northern suburb of Denver Colorado. We are Regional Reps the states of Colorado, Wyoming and Utah. We have been members of PRISMS for over 20 years. Nettie is our only child and she has SMS. She was born in 1991 and we received our diagnosis of SMS when she was 13 months old. The support we received from Maggie Miller and Ann Smith when we received the diagnosis was extremely important to us. We met our first SMS families in person in 1997 at National Institutes of Health before the first SMS conference. We valued meeting other families that understood what we were going thru so much that when we returned home we started our own local support group with families in Colorado and Wyoming. We have attended every SMS conference and enjoy meeting with other SMS families and talking with the SMS professionals.
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My name is Alejandro and my wife is Delma. We have three girls: Delilah (our 9 year old SMSer), Micaela (7 years old), and Sarai (3 years old). We live in New Mexico. My wife is an amazing homemaker who is active in the community and schools. I work full time as an analyst for the US Government. We have been members of PRISMS for 6 or 7 years (time sure does fly). Our Delilah has grown tremendously over the past few years, thanks to all the help and services. She reads at or above her grade level and is one of her favorite activities. She does well at school and thanks to an amazing teacher and support staff at the school. Her “outbursts” are saved for us at home (lucky us). The family has adapted at working with/around her and we still have fun. We take trips several times a year and they go fairly well. Lots of thinking and planning ahead of time to make sure we have a way out of situations for Delilah and those around her. Overall, the drawbacks of SMS have been hard but overtime and with lots of advice from friends, our church, and family (blood and SMS community) we feel like we live a typical (yet exciting) life.
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Hi, I’m Mary Beall, mother to Laura who has SMS. We are in the Texas region. Laura was born in 1985, and we got a diagnosis when she was 12. PRISMS became our lifeline at that time, and we have been active members for twenty years. My husband, Randy, is the former President of the PRISMS board. Laura is affectionate, outgoing, and funny. She loves the Dallas cowboys, license plates, and music. She has a sister and brother-in- law who live in Denver, Colorado.
My name is Jennifer Comford, and I am a Regional Representative for TX. I have a daughter Caroline, age 18, who was diagnosed with Smith-Magenis Syndrome at 15 days old. We have affiliated with of PRISMS since 1999.
By attending most of the conferences since Caroline’s diagnosis, we have been much more equipped to advocate for our child. We learned how to be a strong advocate for Caroline by using techniques taught at PRISMS conferences. Everything from IEPS to Medicaid waivers and most recently were able to navigate the guardianship process all due to information we learned from the conferences. As your Regional Representative, I’m happy to be a listening ear (the numbness that comes with receiving the diagnosis I remember all too well), I’m very well versed in advocating for children in the school systems. I even took a course about dealing with a child on an IEP when you are a military family and your child attends DoD schools. Because we were a military family I have dealt with school systems in multiple states and I know how each system can vary widely but the IDEA is the IDEA and that applies nationwide and the law is on our kid’s side. I have learned how to seek out and tap into different area resources. I’m very familiar with services that would be beneficial for military families as well. I look forward to helping you navigate Smith-Magenis Syndrome and am happy to answer your questions
I am Charlene Liao, Ph.D. training in molecular biology and immunology. I live in San Francisco Bay Area in Northern California. I have been with PRISMS for over 17 years and served as PRISMS Board Member for a period of time. My daughter Connie was diagnosed with SMS when she was 6 years old, even though we knew there was something unusual about her since she was born and despite having best access to doctors and specialists at UCSF and Stanford. She now goes to an adult day program. My husband is a professor at Stanford who together with his students have made significant progress in understanding the neurological abnormalities associated with SMS through studies in mice. Both of us are involved with the PRISMS Research Roundtable and SMS Research Foundation to some extent.
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My name is Diane Erth, and I am the San Diego Regional Representative for PRISMS as well as a newly appointed PRISMS Board Member. I live in San Diego, Ca with my husband, Joe, and my 8 year old son, Max. I am a Stay at Home Mom but I feel I deserve a more elaborate title as I find myself wearing many hats and often several at the same time.
Max was diagnosed with Smith-Magenis Syndrome at just 30 days old. We did a lot of research online and found PRISMS. We reached out to the then President and were able to ask questions about his daughter. It was good to talk to another parent about our concerns.
I have made it a personal goal to welcome and offer support to all SMS families and to be available to answer questions and help the newly diagnosed families. Sometimes, venting to another SMS parent is what is needed. While I’m no pro, I do have knowledge of the services available in my area and am happy to help others get the support that they need in raising a child with SMS.
Please feel free to call or email me if you need anything. I can’t promise I have all the answers, in fact, I CAN promise that I don’t, but I am ready and willing to help other families on this wild journey called SMS.
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Hello! My name is Sheila Hernandez and I am happy to be your Regional Representative for Puerto Rico and Caribbean, also Spanish communities and cities.
My son, Joaquin Rodrigo Gonzales, was diagnosed with SMS at age two and is now five years old. PRISMS is the first website that we looked at when we received his diagnosis. The information shared on the website and newsletter has been most helpful. We appreciated the support we received and as a result, I decided to be a representative a year ago.
My goal is to support the families when that have a SMS diagnosis and to create a network that will enable us to meet and discuss experiences regarding therapist, local Department of Special Education, and to share the medical specialists that we currently use for Joaquin. I feel that it is important for us to be able to talk, listen and learn together as a SMS family.
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Hi my name is Maria Elena Carrancedo. I’m the regional representative of Mexico. I have been a member of PRISMS for around 10 years. I have a daughter with SMS, her name is Mariel and she is 18. She was diagnosed when she was 2 years old. I have another daughter who is 16. We live in Mexico City.
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We are a Family from Brazil, specifically Rio de Janeiro. My name is Eliane and I’m Lucas’ mother. Lucas has a sister, Barbara, and a stepfather, Tiago. We also have a dog called Dom.
In 2012, Lucas was diagnosed with SMS and we became a member of PRISMS. Even being from Brazil, PRISMS was the first one who taught us about the syndrome and who gave us support in the first moment showing us all the happiness that our children give us. Luke brought to our lives values, discoveries, joys and made us strong people. Our days are like a roller coaster, some days are calm, but other are hurricanes. We are learning continuously.
Therapies, regular school with inclusion and special school are part of our routine. We need to reconcile our work with personal life. Often going to work without sleep … Melatonin has helped a lot. I am an engineer and my husband is a teacher.
Our daughter would like to do oceanography. And our dear Lucas would like to be a Fireman as he always says! Lucas is outstanding. Observer and intelligent. And with a big sense of humor. He loves music and dance, but often has explosions that make us very sad. I hope these explosions could stop one day. He is 8 years old and likes Angry Birds, Avengers and birthday parties. Now, I cannot imagine our lives without Lucas. Each of us have so much love for him!
He teaches us every day with his innocence and unconditional love.
I’m thankful for being part of SMS family and PRISMS member.
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My name is Sabrina Bisiani. I live in Italy and I’m the President of the Smith Magenis Italia Association. Prisms was my first contact at the moment of diagnose of my little child Federico. We were completely alone and Prisms gave us all the support and information about the Syndrome. After 5 years and a very good job for raising the SMS awareness, 80 families with SMS diagnosed children and young adults have joined our group. A big result thinking about the fact that all of us have thought to be alone in Italy.
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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.
My name is Allison Leatzow. I live in Tallahassee, FL. My son Andrew was diagnosed with SMS in Fall of 2013 with the mutation version of SMS. After Andy was diagnosed, we went online, as everyone does, to get more information. We found the PRISMS site and immediately signed up to become members. It answered many questions and confirmed suspicions we had all along. We called and spoke with May and Randy Beall (former President of PRISMS) the next day and were able to get even more information and offers of others to connect with who had similar experiences as our son. Not long after Andy was diagnosed, we were in crisis and had to place him in our hospital’s psychiatric facility for nearly three days.
We had just received our PRISMS membership packet, and I was able to bring it to the hospital for the medical staff to read and better understand his condition. Without PRISMS, we would not have felt as accepted as we do and have resources at our fingertips.
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My name is Kevin O’Connor. I am a Regional Representative for IL. My son Deane, with SMS, was diagnosed at 17 months. He is now 27.
I have been affiliated with PRISMS from almost the beginning. Deane and I attended the first PRISMS conference in Bethesda, MD in 1994, and we have attended every PRISMS conference since and presented often.
PRISMS has served as an important source of information on development, coping, and research for Deane, my family and myself. It’s very helpful to understand what similar challenges and successes other parents are experiencing so that we can build on successes and avoid, if possible, pot holes. Parent sharing of experience is key.
I would like to share Deane’s successes and challenges both current and historic. I believe that small group or 1-on-1 meetings between parents and between SMS individuals helps to build strong relationships and facilitates information sharing. I especially would like to help accelerate access to useful knowledge for parents of newly diagnosed SMS children.
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My name is Bernadette Huston. My husband, Percy Huston, is currently serving on the PRISMS Board. Our daughter is Jacqueline and she turned 27 in 2018. We have been a part of the PRISMS community since Jacqueline’s diagnosis when she was 13. I have had the pleasure of speaking at two conferences.
PRISMS has personally helped our family by being a resource for school, guardianship, health issues, education, and IEP, friendships with other parents that have SMS children, empathy and support from other SMS families. In addition, the PRISMS International Conference has provided the opportunity to meet other parents of SMS children and compare notes, tactics that work with discipline and life. I look forward to having regional gatherings with other local families. In the past, we have hosted two PRISMS walks and other SMS families have attended. We would love to see more SMS families join in the activity as it is fun for the whole family.
As your regional representative, I will do my best to provide you with helpful resources and create a support group to help families know that they are not alone.
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My name is Brooke Widmer. My son Judah was diagnosed in 2013 when he was 18 months old. We have been affiliated with PRISMS for 2 years. When we first learned about Judah’s diagnosis, we google searched SMS and were lead to the PRISMS website. We found this website to be the most informational. In the midst of hearing this difficult diagnosis, the website seemed to be positive and encouraging.
The conference was an extremely beneficial experience as we left with a lot of new information. Mostly, it was nice for us to meet families on the same journey. We continue to stay in contact with a few of the families. I am here to listen. I know how devastating getting this diagnosis can be, especially when you have never heard of SMS and others around you have not heard of it either. I am here to support you.
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My name is Maureen Monroe, and I live in Bellingham, WA. My son, Jim, is 29 years old and was diagnosed in July of 2012 at the University of Washington Genetics Clinic after being hospitalized for Congestive Heart Failure. He was 23 years old then. When I received the genetic diagnosis of SMS, I immediately contacted, Randy Beall (former President of PRISMS). I then attended the 2016 PRISMS conference in St. Louis, MO. PRISMS has answered many unknown questions regarding SMS for me and my family.
I was pleased to finally know why my son was struggling with behaviors and sleep deprivation. I was able to share with doctors, teachers, caregivers, and family the information from the PRISMS website. Because of an article written in The ARC of Whatcom County newsletter, which highlighted the diagnosis of our son, another local family contacted me with concern that her son may have the same diagnosis. The result was that he was diagnosed with SMS, and we have become very good friends. This family lives just 15 minutes from my home.
As an advocate and volunteer with The ARC, I continue to encourage families to attend support groups and to share their journey. It is also important for me to support siblings of family members with SMS providing events and programs that validate their experiences with an SMS sibling. I am hopeful to coordinate picnics and meet-ups with local families. I enjoy seeing the younger families on Facebook and hearing their successes.
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My name is Trevor Gritman. My son is Boston, and he is 7 years old! He was diagnosed with SMS at 10 months old. We have been affiliated with PRISMS for about 6 years, shortly after his diagnosis. When we attended the 2012 International Conference in Colorado, we found it to be a wonderful resources as it provided us much of the information that we could not find anywhere else. We felt lost until we found PRISMS. When thinking about being a representative, I noticed that there were not many SMS dads volunteering and feel that my perspective might be received well by fathers of newly diagnosed children.
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My 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.
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My name is Cally Bauman and I am a regional representative for both Australia and New Zealand. My daughter, Amélie is 14 years old and was diagnosed with the deletion form of SMS, when she was 3 years old. I have been a member of PRISMS since 2009 and a regional representative since 2014. I am also the chairperson for Smith-Magenis Syndrome Australia (http://smsaustralia.org.au), an international partner of PRISMS.
PRISMS has enabled the connection of our family to an international community of families and specialists and provided us with an invaluable wealth of information which aids us in understanding our ‘SMS journey’. It is my hope as a regional representative to assist local families to build connection and locate resources and support close to them (e.g. navigating the NDIS, Camp Breakaway etc.).
Please connect with me if you are looking for information, interaction with other families or would just appreciate an understanding ear!
Connect with Cally
My name is Brianna Ryczek. My sister, Amber Collins, is my connection to SMS. Amber is a beautiful young lady now in her twenties. She is a wonderful aunty to my son and they spend a lot of time together. Our family is located about 30 miles north of Green Bay, Wisconsin and I have been a member of PRISMS for a few years. It helps our family in difficult times to see others who can relate to SMS from across the world! Amber is an avid member of Facebook and loves to write to others (some of it may be jibberish) and would love additional friends, so let me know if your interested. She also enjoys video chats. As far as information about myself, I simply love my sister so much and want to help others in this community. I encourage others to reach out and make connections and would be happy to help!
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My name is Carissa Le, from Lakeville, MN (30 miles south of the Twin Cities). My daughter, Scarlet, is 10 years old. She was diagnosed at 16 months in September of 2008. I’ve been a member of PRISMS for a few years and have attended the last 2 international conferences. When my daughter tested for SMS, my mom found the PRISMS website and shared it with me. My jaw dropped as I found “twins” from all over the world in pictures on the site. I knew SMS was the diagnosis before the testing was even complete. I’ve used the website and those I’ve met through online boards to help me as questions arise. I can be of assistance to others in my area by leading them to www.prisms.org, giving them pamphlets and other literature, and hosting get-togethers.
Connect with Carissa
I am Osman Umarji and I represent Southern California (Orange County). My son, Malik, is currently 6 and was diagnosed at age 3. We have been affiliated with PRISMS since we received the diagnosis. PRISMS has helped our family in so many ways. It has provided our family with many great educational resources (website and conferences) to help us to better understand SMS for ourselves and education our family, friends, and Malik’s teachers. Furthermore, PRISMS has helped us connect with many other SMS families, which has helped us learn about different medical, educational and social programs that Malik has benefited from. Connecting with other families also gives us comfort in knowing that there are amazing families who are ready to help us at any moment. I am happy to be of service in helping parents with a young child with SMS. In particular, issues related to preschool and elementary school education are an are of strength of me, including finding extracurricular activities for SMS kids.
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Callihan joined the PRISMS team as a Regional Representative for New York in September 2018. She’s very familiar with Smith-Magenis Syndrome. Her older sister, Briahna who is 28, was diagnosed with the disorder at 11 years old. Callihan and her family then turned to PRISMS conferences to get a quick education so they could mold their life to best fit Briahna’s needs. Conferences showed them that they weren’t alone in the world when it came to seeking help, so Bri could live the best life possible.
17 years later, they still go to conferences to make sure they’re up to date on any new developments. Callihan has been a caretaker for her sister since age 12. Bri went to her prom, she also went up to her college and stayed in the dorms. It’s very important to Callihan that her sister gets to experience the same joys in life that she does. Callihan has 26 years of experience growing up with her sister. She knows her sister’s needs and she knows how to be her sister’s voice, and she wants to do the same for other families in Central New York. She received education through PRISMS, and she’s excited to share that experience with families across her region.
Connect with Callihan
Rhythm is currently recruiting for a Phase 2 clinical study of an investigational therapy on reduction of weight and hunger in individuals with Smith-Magenis Syndrome and rare genetic disorders of obesity.
The study is enrolling individuals:
Study participation includes:
If you are interesting in learning more, please email SMStrialinfo@rhythmtx.com and please indicate the city, state, or country in which you reside.