Hello and thank you for stopping by! Here is a quick recap of how I became the Miraculous Miss Maddie:

I was diagnosed with Angelman syndrome (AS),  a rare neurogenetic syndrome effecting 1 in 15,000-20,000 live births on January 2, 2020. My twin sister, Kellie, and big brother, Colin, motivate me to keep up with their crazy ways. At first my delays were subtle and not overtly obvious. This is what makes the diagnosis of AS so challenging, as my fellow Angelman friends and I all present with different symptoms and manifestations. My parents remained cognizant of these subtle differences and advocated for my therapy, testing, and specialty appointments starting around six-months of age.

While the finality of my diagnosis was crushing for my mom and dad, it provided clarity and a path forward.  My parents delved into the AS community, befriending other parents who have walked down a similar path. This community often describes themselves as the “best group of parents you never want to be part of.” These parents’ experiences, reassurance, and unbelievable resiliency provide us with perseverance, tenacity, and unwavering grit. A life-altering diagnosis delivered weeks prior to a pandemic has certainly proved challenging. Albeit, I visited Boston to meet with an expert Angelman epileptologist/neurologist and continued to immerse my time and energy in education and therapy.  I am incredibly grateful for my family, friends, nanny, specialists, and all of my therapists (occupational, physical, speech, aquatic, and vision therapy)for challenging me to achieve to the best of my abilities and beyond. 

Over the past year, my parents and I have also been introduced to the amazing and ongoing research and scientific efforts to cure AS. Physicians, engineers, and scientists are working tirelessly to find a way to activate the paternal copy of the UB3EA gene on my 15th chromosome. In doing so, my friends and I could have improved symptoms and a tremendously improved quality of life. Moreover, finding an effective treatment for AS would potentially lead to treatment for other diseases such as cancer, Alzheimer’s disease, Parkinson’s disease among many others. 

We are incredibly grateful for your time visiting my page and for any donation to help CURE ANGELMAN! 

Xoxo,

The Miraculous Miss Maddie 

Please follow me and my journey:
Facebook: @Maddie Sargent (https://www.facebook.com/maddie.sargent.100)
Instagram: @TheMiraculousMissMaddie