For Families

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.
“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.
“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!
“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.
“He will continue to have seizures.” 
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 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 will need 24-hour-care for the rest of his life.” 
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!
D92069C4 7874 4F58 BA53 84681B81274C 1
Love,
amelia sign

Amelia, an Angelman parent just like you

Open Amelia's Letter

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.

community
Play Video

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

  • Angelman Academy
  • Billy Footwear
  • Create Your Own AS Fact Card
  • P2P USA
  • Physician's Note
  • Seizure Action Plan
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. 
logo about

BILLY Logo 2019 Registered TM Yotpo Logo 200x167 7800b6f5 97bd 4d43 a5fd 3bed341917e1Smashing fashion with function, BILLY Footwear incorporates zippers that go along the side of the shoes and around the toe, allowing the upper of each shoe to open and fold over completely. Thus the wearer can place his or her foot onto the shoe footbed unobstructed. Then with a tug on the zipper-pull the shoe closes and secures overtop the user's foot. It's simple. It's easy.

Billy Footwear has generously provided a 10% discount on all purchases. 

Shop now

sample card2
Help spread awareness for Angelman syndrome. Personalize your own Angelman syndrome Fact Card to share with others. 

Friend of P2P@180Parent to Parent USA - a national organization that supports families of individuals with disabilities and special health care needs with best practices on one to one emotional support.
https://www.p2pusa.org

 

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. 
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.

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

can3.1.21
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!
can3.1.21
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!
X
X