Angelman Syndrome

Rob launched this family website in 2004, soon after Maggie was diagnosed with Angelman Syndrome (AS) at age 15 months. Angelman started out as a devastating diagnosis but our experience with the syndrome has evolved. Now, our Angelman Syndrome community is such a part of our family life that its hard to imagine life without it. Some of the most charming people we know are individuals who have AS. The diagnosis took away our sense of normalcy but then at some point, living with Maggie's diagnosis became normal to us. Erin likes to compare Angelman to a grumpy, smelly distant relative who moved in with us against our will. At first, it overwhelmed our small house and took over every part of our experience of parenting Maggie. But at some point, it became less of an imposition and more just a member of the family.

Angelman Syndrome is a developmental disability. It is caused by a random error on the 15th chromosome. For every 15,000 children born anywhere in the world, we expect one will have this error. Somewhere in the world, every hour, a child is born with AS. On average, once per day, one child in the US is born with AS. It is a rare disorder and many individuals with AS have never been diagnosed due to lack of awareness of the disorder. In Maggie's case, she has the most common error, which is a deletion of a portion of her 15th chromosome. This deletion causes the UBE3A gene to not be expressed in the cells of Maggie's brain. Lack of this gene function causes the symptoms of Angelman Syndrome: lack of speech, cognitive disabilities, epilepsy, a movement and balance disorder, some autistic features, and an excitable and unusually happy personality.

For more information about Angelman Syndrome:
the Foundation for Angelman Syndrome Therapeutics

For more information about the genetics of AS:
Genetics 101, a fact sheet authored by Erin Sheldon and Rebecca Burdine, PhD:
or download a PDF here:

For more information about genetic testing for AS:
Testing 101, a fact sheet authored by Erin Sheldon and Rebecca Burdine, PhD:
or download a PDF here:

For more information about Seizures in Angelman Syndrome:
Seizures 101, a fact sheet authored by Erin Sheldon
View as a web page here or download the complete article as a PDF here:

Maggie is an individual, not a diagnosis

The longer that Maggie has had her diagnosis, the less we feel it defines her. Maggie is a grade schooler. She's a girl. She's a redhead. She's a fan of Mylie Cyrus and Zac Efron. She loves music, wrestling, gymnastics, dancing, climbing and any kind of fast movement. She loves leather and fur and anything sparkly. She is funny and fun to be with. She is exasperating. She is busy, active and never tolerates boredom. Maggie has Angelman Syndrome but its just a part of who she is. Angelman has caused enormous challenges for Maggie but it also means that she has conquered enormous challenges at a young age. Few six year olds have experienced what she has.

We have learned so much respect for Maggie and how she has handled enormous setbacks with perseverence and smiles. It is unclear how many of Maggie's challenges are caused by AS and how many are random bad luck. Maggie also has asthma and has experienced respiratory failure and critical illness. She has epilepsy and an eating disorder such that she requires a tube into her stomach to get adequate nutrition. She doesn't use words to communicate. She suffers from migraines and seizures that are now under control. But Maggie doesn't define her life by her medical challenges. She doesn't appear to define her life by what is missing, only by what is right there in front of her. She is unusually gifted in finding the beauty and humour in whatever is right in front of her. We have slowly learned to take our cues from Maggie and appreciate her life from her own perspective. To Maggie, her perception and experience of the world is completely normal. She deserves to have that perception and those experiences treated with respect and equality.

Has someone you love just been diagnosed with Angelman Syndrome?

We hope this website helps you find the information and the hope that you are looking for. When Maggie was diagnosed, there was precious little hopeful or positive information. It felt like we lost the baby girl who had been born to us and a horrible syndrome was substituted in her place. All our hopes and dreams for her future and for the future of our family were ripped away. But slowly, Maggie showed us that she was the same child she was the day she was born. She hadn't changed, just our perceptions of her based on her diagnosis had changed. We realized that she could live with AS and still be happy, still have a life full of friends and challenging work and people who love her. We realized over time that our family life did not have to be enslaved to her diagnosis. The time of the diagnosis was the hardest. It only got easier.

The most helpful thing we did after Maggie's diagnosis was talk to other parents of children with AS. Parents of older children were able to give us glimpses of Maggie's future that were full of hope. Erin loves to talk and e-mail! Please feel free to click here and drop us a note. Erin will be happy to give you a call and help you find other families in your area or with a child the same age. You can also find Erin on Facebook.

 

Our Commitment to Inclusion

Maggie is fully included in our community. Her play dates wth peers, her joy and achievements at school, and her ability to connect us with people from all walks of life has made all of the difference for our family. Inclusion is not just a block of time in Maggie's day, it is a way of life.

Benefits & limits of scientific research

In this area, we will report on new research and publications found in peer-reviewed, academic journal articles. While we agree that parents generally know their child best, and far more about the syndrome than most medical professionals, there is great value in scientific research. It is natural for parents to assume that their experiences are true for all families, but each person with angelman syndrome is unique and scientific research provides us with insights that capture a broader population. At the same time, scientific research cannot capture the joy and chaos of individuals with angelman syndrome.

Benefit of corticosteroid therapy in Angelman syndrome.

Katharine M. L. Forrest, MRCPCH, Helen Young, FRACP, Russell C. Dale, PhD, and Deepak S. Gill, FRACP

Angelman syndrome is often associated with an intractable seizure disorder. We describe 4 children who demonstrated an excellent response to corticosteroid therapy. The benefits included not only reduction in clinical seizures but also modification of the "typical'' Angelman electroencephalogram. In addition, there was improvement in the myoclonic jerks, sleep pattern, and developmental progress. Corticosteroids appeared to have a broad benefit on the epileptic encephalopathy. We believe that these cases pose a challenge to the conventional management of intractable epilepsy in Angelman syndrome. Read full article here.

Levetiracetam in Nonconvulsive Status Epilepticus in a Child With Angelman Syndrome.

Peter Weber, MD

Children with Angelman syndrome have an increased risk of developing a nonconvulsive status epilepticus. Although the urgency to treat nonconvulsive status epilepticus depends on the underlying illness, most clinicians and authors agree that treatment should be focused to rapidly terminate this condition. Until now, the use of levetiracetam to treat nonconvulsive status epilepticus in children is based only on some case reports. Our case further supports this treatment regime for a subgroup of children with a special risk of nonconvulsive status epilepticus and developmental delay. Read the full article here.

 

Maggie's health care needs

Maggie has had medical challenges which are not typical among children with Angelman Syndrome. In the fall of 2007, Maggie spent over two weeks on life support with Acute Respitory Distress Syndrome (ARDS). She has a history of repeated pneumonias and was diagnosed with asthma at age 4. Since being diagnosed with asthma and starting daily steroid treatment, Maggie has not had another pneumonia and her health has greatly improved. (Link to ARDS organization.) Maggie has never shown great interest in food, so she got a g-tube.

Health care issues in Angelman Syndrome

 

Holly, the original Angelic Anarchist

 

Holly and her PA started a movement that has transformed the way that many families talk about their lives and experiences. Until Holly made her virtual debut, it was nearly impossible to find any positive information about angelman syndrome on the internet. Rich and Holly gave us hope when we first received our diagnosis and they have done the same for many families since. Life has many challenges, but Holly and her PA show how it can be done with humour, love and anarchy.

Visit Holly's website - The Angelic Anarchist.