Voices of Angelman Syndrome

Rhys

“We are from Boise Idaho, a chaotic family of 6 but we wouldn’t have it any other way. Dad (Rob) is a football coach and fun dad and Mom (Melissa) is a stay at home mom, chauffeur, maid etc. McCall (age 9) is the only girl and our artist. Bodie (age 7) is our athlete and comic relief.  Rhys (age 5, deletion +) is our reason. He is the best thing that ever happened to our family. Last, but not least is our little surprise Archer (age 1) who is keeping us on our toes!

Our family would do anything to be able to hear Rhys talk. We want him to argue with his siblings.  We want him to play football with his brothers. We want him to not have the debilitating seizures that reek havoc on his accomplishments. However, some things about Rhys do not need changed. Rhys loves everyone unconditionally. He can make anyone smile, especially on the days you need it most. He has a heart of gold.

We are so excited for the work OVID is doing and we are proud to be a part of such an amazing Angelman community.”

Theo

“My son has a condition called Angelman syndrome, a rare neuro genetic disorder that causes global delays, afflicted motor coordination, renders him incapable of vocalizing words and, at times, causes seizures. And if that laundry list isn’t enough, the icing on the cake of this hard-knock diagnosis is that Angelman syndrome is also classified as a sleep disorder.

According to Terry Jo Vetters Bichell, whose son Louie, 19, has Angelman syndrome, the causes of sleep disorders in AS are multi-fold and can be pinned on numerous things including circadian abnormalities, excess excitatory transmission, seizures, and behavioral issues.

Research studies estimate that between 20-80% of young children with Angelman syndrome experience sleep difficulties, with the majority of sleep disruption occurring between the ages of 2 and 6. According to professor Bernard Dan, a pediatric neurologist at the Universite Libre de Bruxelles in Belgium via a public video on YouTube: ‘My feeling is that people with Angelman syndrome find it difficult to surrender to sleep. This has to do with their general development and general lack of muscle tone (hypotonia), which is one of the reasons why you see them moving all the time – to create muscle tone. It seems to be difficult for them to let go.’

According to Dan, the best way to help children with Angelman syndrome achieve optimum sleep is to have very firm routines around their sleep schedule.

Schedules help, but there are still the immense issues that contribute to disrupted slumber we can’t ignore. Routines are often supplemented with medicines, special diets and, in the case of my son, extra activities and exercise to wear him out.

It goes without saying that living without sufficient sleep is a hard cross to bear and one that is not easily resolved. In fact, prolonged lack of sleep leads to cognitive impairment, including difficulties with concentration and memory retention and, in more severe cases, chronic illness and other dire health issues. For families and children who experience a constant lack of sleep — well, life only becomes more compounded and complicated.”

To read Christina’s complete story, click HERE.

Weston

Most babies learn to crawl between 6 and 10 months old; however, as the weeks passed and Weston still had not hit this milestone, parents Mike and Lori Cecere grew increasingly worried. Eventually, they went to a specialist.

Weston was diagnosed with Angelman syndrome when he was 15 months old. His parents were told he would never be able to walk, and things that may seem insignificant to most — something as simple as using a straw — might be impossible for him. One of the biggest challenges families face is in trying to control seizures. It’s hard to know just what will trigger a seizure, which can become a source of constant anxiety.

Yet despite the odds and the diagnosis, Weston learned how to walk. And though it took his siblings just nine months to learn how to use a straw, after five and a half years, Weston, too, was able to accomplish this task. For families impacted by Angelman syndrome, these are more than milestones; they are victories amidst lifelong challenges and emotional struggles.

It’s these small changes that can have a big impact and open doors for children like Weston to do the things many thought they would never do.

To read Lori and Mike’s complete story, click HERE.