My name is Maddie, or the Miraculous Miss Maddie as I am often referred to. I am a charming, determined, and happy three-year-old, blessed with a fraternal twin sister, Kellie, and a five-year-old brother, Colin.
At 15 months of age, I was diagnosed with Angelman syndrome (AS), a rare neuro-genetic disorder occurring in one in 15,000 births or 500,000 people worldwide resulting from a loss of function of the UBE3A gene on the 15th chromosome. Angelman syndrome is often misdiagnosed as autism, cerebral palsy, or Prader-Willi syndrome due to similar presentation and symptomatology. Several characteristics of AS include developmental delays, speech impairment, recurrent epilepsy, severe sleep disturbances, gastrointestinal issues, and problems with balance and movement. Despite all these symptoms, most individuals with AS have a bright, happy, and smiling demeanor.
When my parents received my diagnosis, the genetic counselor focused on all the things I can't or won't do. Little attention was given to the possibilities, the hope of my future, my family's future, and the future of other individuals facing a rare disease diagnosis.
Since diagnosis day, January 2, 2020, my family and I have been committed to turning the cant's into cans. I am happy to report that despite being told I may never walk, I took my first steps in April of 2021. Despite being told I may never communicate, I not only communicate with my eyes and my actions, I am now saying "mama" and I am starting to use an iPad to purposefully communicate. Despite being told that my cognitive abilities would be comparable to an 18-month old, I continue to defy these odds. I have an indescribable and immeasurable appreciation for the incredible opportunities in Kansas City for kids like me, kids with different needs. Thanks to these organizations, there will be no label placed on what I can and what I can't achieve.
While navigating a rare disease is challenging, I am incredibly fortunate to have a diagnosis. And my diagnosis, Angelman syndrome, has gained immense attention over the past two years due to an overwhelming and amazing commitment to research and ongoing clinical trials towards meaningful treatment and a cure. Scientists now say it is not a matter of if I get a treatment, but when (see The Foundation for Angelman Syndrome Therapeutics for more information).
My community, family and I are incredibly excited and hopeful for what is on the horizon for children living with Angelman syndrome and other rare diseases. We are launching Maddie's Mission, in affiliation with the Shaw Family Foundation, to raise awareness about Angelman syndrome while supporting local organizations that have enabled me to achieve to the best of my abilities. It is our sincere hope that every child has this same opportunity.
