Disney: Rett syndrome — the most heartbreaking disorder you’ve never heard of
Collyn Disney, 3 ½, bottom left, was diagnosed with Rett syndrome after her parents noticed she wasn’t meeting age milestones like her three older siblings.
Photo courtesy of Chris and Angela Disney
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By Chris Disney | Picazzo’s Healthy Italian Kitchen
October is Rett Syndrome Awareness Month. What is Rett syndrome? It is a rare genetic neurological disorder that begins to display itself in missed milestones or regression at 6 to 18 months.
Rett syndrome has afflicted 350,000 people worldwide, with about 15,000 cases in the U.S. It’s a syndrome you wouldn’t think about unless you had to. And it’s something I might never have considered either until our 3 1/2-year-old daughter, Collyns, was diagnosed with Rett two years ago.
As a baby, our sweet Colly was bright, alert and hit her milestones as expected — just like her three siblings. When she was around 13 months old, my wife, Angela, and I noticed she wasn’t meeting milestones on the same schedule as our older kids, and we were concerned.
Our doctor reassured us she was just experiencing normal delays, but we knew something wasn’t right. Additional investigation led to a diagnosis of Rett. Our world changed in an instant.
A Google search of Rett syndrome quickly takes you down a tunnel of despair. This rare disease combines the symptoms of autism, cerebral palsy, Parkinson’s, epilepsy and anxiety disorder.
While symptoms vary, Rett typically leads to severe impairments that affect nearly every aspect of life — the ability to speak, walk, eat and breathe easily. When you can’t breathe, you can’t sleep. When you can’t speak, you grind your teeth in frustration, unable to communicate your thoughts and needs. Watching your child struggle with this every day is something no parent should have to experience.
The encouraging news is that researchers know what causes Rett syndrome and through rapidly progressing research and trials, they are getting closer to finding a cure that could dramatically alter our daughter’s quality of life. Clinical trials for gene replacement are now underway for Rett syndrome. It’s a promising approach that has the potential to profoundly reverse the devastating symptoms of Rett.
For now, we are doing everything we can to provide our daughter with comprehensive occupational therapy, speech therapy, feeding therapy and physical therapy to help stave off the effects of Rett Syndrome.
We are fortunate to have found the nonprofit clinic BloomKidz Wellness & Recreation, where she receives daily integrated therapy. The staff at BloomKidz treat our daughter as if she were their own. Therapy is the best thing we can do for Colly right now and it’s helping her hold on to her physical capabilities like walking and using her hands, while we wait to potentially join a pediatric clinical trial for gene therapy that could dramatically improve the outcome of her life.
It’s easy to feel helpless as we watch our daughter struggle. However, in addition to helping her with therapy, we are also taking action by leading a fundraiser at Picazzo’s Healthy Italian Kitchen, where I am managing partner. In October, we’re donating $1 to Rett Syndrome Research Trust for every dessert sold at all six Picazzo’s locations.
From November on, we will continue to raise awareness and funds by donating $1 for every chocolate chip skillet cookie sold, and we will continue to support our daughter in every way we can, striving to give her a full and happy life.
Chris Disney is managing partner of Picazzo’s Healthy Italian Kitchen, a local, family-owned restaurant with locations in Sedona, Scottsdale, Paradise Valley, Tempe/Chandler, Gilbert and Arrowhead. Reader reactions, pro or con, are welcomed at AzOpinions@iniusa.org.
