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

When I was first learning the guitar, I remember feeling frustrated when I wasn’t able to play certain chords right away. My fingers weren’t exactly cooperating, and it would take a lot of time, practice and hand aerobics to finally land these chords and string them together into something resembling a song.

It’s funny, that years later, I would witness my young son, Theo, endure similar frustrations with simple gestures and movements day in and day out.

Theo has a condition called Angelman syndrome (AS), a rare neuro genetic disorder that causes global delays, afflicted motor coordination, renders him incapable of vocalizing words and, at times, causes seizures.

To be clear, Theo’s challenges aren’t with guitar strings or anything quite so intricate, but with accomplishing the most meager of actions – turning a doorknob, creating a steady pointer finger, grabbing a zipper or using a fork to spear food. And that’s just the start. I think it’s fairly accurate to report that life with Angelman syndrome, for the children and their families, is on par to scaling Everest twice a day. Backwards.

Collectively, we are beyond fatigued. Climbing those mountains alongside our sons and daughters takes everything out of us, and even when there’s nothing left to give, we have no choice but to keep going. Somehow, we learn to persevere through the most difficult of times and emotions. One thing our little village has realized repeatedly over time: our children don’t give up, so why should we?

What we all wouldn’t give for a breakthrough that would help our children possess stronger and more intentional motor skills. Though a potential cure is set to happen in our lifetime, we pine at this very moment for improvements, however small, that would help our children in their ability to communicate and to thrive.

I would cry tears of joy if Theo could dress himself. Having a 5-year-old that could slip on a pair of pants or change his own shirt should not be a lofty dream that’s out of reach. But for me, it would be an incredible time-saver, a game-changer, and a proud moment that I would relish every single day.

Of course, walking and standing aren’t the only things we want for our children. We also want them to experience the fun of childhood to the fullest capacity: steadily holding and licking an ice cream cone before it melts, playing a video game alongside their peers, or cutting their food with a knife and fork.

Some of our children can’t use straws or pull up their socks if they start to slip. While these might seem like minor things to many, in our world they are skills that can take years to learn.

We love and cherish our kids regardless of their abilities, but we’re also striving for a higher quality of life for them. They deserve that. Thankfully, these small improvements are on the way to becoming a reality due to a number of Angelman-specific therapeutics that are currently in the pipeline and on the way to our children. We wait with hope.”

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.