Dear Newly Diagnosed Parent,
I remember the day my then 14-month-old son Orion was diagnosed with Angelman syndrome – devastating, crushing, hopeless. I heard words that no parent ever imagines hearing about their child.
This is a point/counterpoint 4 years after diagnosis that I hope will give you hope for a future – not at all as you expected – but richer than you could ever imagine.
“Your son has Angelman syndrome.”
I had never heard of that before diagnosis day.
I had never heard of that before diagnosis day.
“He will never talk.”
Orion is 5, and he has five spoken words. He uses his voice and gestures to communicate. He also uses his AAC (augmentative and alternative communication) device, which is not his preference, however, his language continues to grow and his communication abilities are maturing.
Orion is 5, and he has five spoken words. He uses his voice and gestures to communicate. He also uses his AAC (augmentative and alternative communication) device, which is not his preference, however, his language continues to grow and his communication abilities are maturing.
“He will probably walk … eventually.”
Orion started walking at 19 months. He started running at 3 years old. He is now 5 years old and he is able to safely navigate our treacherous stairs unassisted, alternating his feet going up and coming down. He is also doing wheelbarrow, walking on his hands, up those same steep stairs, which would be hard for any 5 year old to do!
Orion started walking at 19 months. He started running at 3 years old. He is now 5 years old and he is able to safely navigate our treacherous stairs unassisted, alternating his feet going up and coming down. He is also doing wheelbarrow, walking on his hands, up those same steep stairs, which would be hard for any 5 year old to do!
“He will be severely intellectually disabled.”
Orion understands everything, responds appropriately when he wants, and continues to amuse us with his wit, intelligence and charm.
Orion understands everything, responds appropriately when he wants, and continues to amuse us with his wit, intelligence and charm.
“He will continue to have seizures.”
We have seizures under control thanks to neurofeedback and the Low Glycemic Index Treatment diet.
We have seizures under control thanks to neurofeedback and the Low Glycemic Index Treatment diet.
“He will never have a job.”
He is always finding creative solutions to problems. I think he may be an engineer … or a male model because he is incredibly handsome!
He is always finding creative solutions to problems. I think he may be an engineer … or a male model because he is incredibly handsome!
“He will have problems learning even the simplest of tasks.”
He was potty trained at 2 years old. I know many neurotypical boys who aren’t potty trained at that age.
He was potty trained at 2 years old. I know many neurotypical boys who aren’t potty trained at that age.
“He will need 24-hour-care for the rest of his life.”
That is already not true.
That is already not true.
Orion is not his diagnosis. He is very capable. He works really hard, and we push him even harder. His smile is magnetizing, and everyone adores him.
There is hope, there is always hope!
Love,
Amelia, an Angelman parent just like you
The Importance of Community
For families touched by Angelman syndrome, the community can be a lifeline. The Angelman family will support you in difficult times and celebrate your hard-earned wins. We share a common vision, that soon there can be a cure for all ages. Share to help raise awareness on the importance of community. International Angelman Day is celebrated annually on February 15.
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Newly Diagnosed?
Diagnosis day brings a flood of questions. Have no fear. You are now part of our FAST family: a network of parents, researchers, clinicians, and other professionals who are committed to Cure Angelman Now. Here you will find a supportive community, answers to each of your questions, and a wealth of resources to help you manage your child’s daily needs. Please click on the button for the steps to take as a newly diagnosed parent.
Angelman Syndrome Clinics
The 15q Clinical Research Network is a comprehensive clinical network system. Each clinic has its own unique expertise and specialized care available. Individuals with Angelman syndrome will have access to a variety of professionals, including, but not limited to:
- Clinical geneticist
- Neurologist
- Psychiatrist
- Psychologist
- Speech Language Pathologist
- Physical/Occupational Therapist
- Genetic counselor
- Social worker
- Nutritionist
For more information, or to find a clinic, please visit
Global Angelman Registry
The Global Angelman Syndrome Registry is a project designed to empower individuals diagnosed with Angelman syndrome, their families and those working towards research and treatments.
Parents and caregivers can drive data collection by contributing to the largest dataset on Angelman syndrome by entering details of their loved one/s diagnosis, medical history, development, and more in a series of online modules. The Global Angelman Syndrome Registry is a tool for understanding developmental progress, medication, and seizure management, but more importantly, it provides an invaluable resource to advance the search for therapeutics. We ask that you complete the registration and update it annually as a part of moving us toward meaningful treatments.
Resource Library
- Create Your Own AS Fact Card
- Individualized Education Plan (IEP) Liaison
- FAST's Adult Transition
- Physician's Note
- Angelman Academy
- Seizure Action Plan
- Toileting Toolkit
Help spread awareness for Angelman syndrome. Personalize your own Angelman syndrome Fact Card to share with others.
Is your child with Angelman syndrome transitioning into the school system for the first time, generally at the age of 3? If so, we are here to help! FAST will provide an IEP Liaison that will guide you as you navigate through the IEP process. If you would like some help, fill out the intake form and we will contact you.
Virginia Spencer, FAST IEP Liaison
Virginia Spencer is a Special Education Advocate, ADHD Coach and Principal of Lumen Advocacy LLC, in Austin, Texas. She helps parents secure a free appropriate public education for their children with disabilities.
She has advanced advocate training in representing parents in impartial hearings from the Council of Parent Advocates and Attorneys and is a certified National Alliance on Mental Illness (NAMI) presenter.
Is your child with Angelman syndrome transitioning into adulthood? Between the ages of 16-21? If so, we are here to help! FAST will provide a liaison that will support you or answer your questions as you navigate through the myriad of tasks required once your child becomes an adult.
If you would like support, fill out the intake form and we will contact you.
Juli DelMonego, FAST Adult Transition Liaison
Juli DelMonego is mom to 3 sons, and her 32 year old daughter Marina with AS. Juli started learning about disability rights soon after her daughter’s diagnosis, researching Special Education laws at the FSU law library in the pre-internet days. She advocated for disabled children’s rights and AS diagnosis awareness at the University of Florida’s genetics program before the Florida Cabinet and the Florida Legislature in the early 1990’s. In 1993, Juli and her husband Robert, together with another Tallahassee family, started the Southeast Angelman family support organization, which encompassed a 14 state region in the US. She was the SE Regional coordinator for the organization.
She did trainings for professionals and families for Florida’s Family Network on Disabilities and also represented families on the Florida Big Bend Transition Council when Marina was in high school. The Transition Counsel assisted with the transition into postsecondary options.
Juli has been a lifelong information junkie and proudly embraces her reputation as “that mom”.
Tracy Carreola, FAST Adult Transition Liaison
Tracy Carreola is a proud mother of two. Tyler, and her adult angel Chelsea. She has personal and professional experience navigating federal and Florida state resources for individuals with disabilities.
She began her career at ARC providing services to individuals with disabilities in 2000. In 2003 she decided to establish her own company providing services through the Florida Medicaid waiver program, Community Experiences, which has been steadily growing ever since.
Tracy currently holds a position on the board of directors at ARC Gateway in Pensacola, Florida
Tracy is an avid CrossFit addict and is a total beach junkie. When she has free time you will find her out boating or enjoying some beach therapy with her favorite famous local drink, a bushwhacker.
This downloadable form is a tool to be completed by you and your child’s physician. It provides you the ability to demonstrate the need for particular supports or services in a school setting.
Angelman Academy provides carefully curated resources, community connections, and expert taught courses for parents, caregivers, and professionals who love, care for, and work with individuals with Angelman syndrome.
Many individuals with Angelman syndrome experience seizures. It is helpful to have a Seizure Action Plan and communicate that to your loved one’s care team. Read more about Seizures and Action Plans here.
Many individuals with Angelman syndrome can learn to be successful with toileting. FAST has provided a Toilet Training Toolkit to assist you with this process.
The David Family
Our journey to diagnosis begins much like many other stories in the Angelman community. Colin, our first born, arrived at 38 weeks after an uneventful pregnancy. He was long, lean, and had a headful of beautiful blond hair. We were discharged from the hospital and eager to settle in as a new family of 3.
Helpful Resources
- Educational Resources
- Cure Angelman Now
- Seizure Support
Each year at FAST’s Annual Summit & Gala, FAST hosts a wide array of educational workshops. These seminars can be replayed and used as a resource for parents, caregivers, therapists and educators. The information and knowledge shared helps to improve the quality of life for individuals with Angelman syndrome – and those who care for them. Start exploring past seminars now!
As diverse as our Angelman community is, we are all united in one goal: a better future for our children. FAST is committed to bringing life-changing treatments to all individuals with Angelman syndrome, but we need your help!