My niece, Jessy, was born with Angelman Syndrome. Angelman Syndrome, AS, is a rare neuro-genetic disorder and is often confused with cerebral palsy or autism due to some similarities and a lack of awareness of the disease. In AS the main gene, UBE3A, responsible for cognitive development is either missing or altered preventing a child from developing speech, walking, fine motor skills, etc and often causes seizures. Despite limited abilities children typically have an extremely happy and smiling demeanor.
My niece Jessy, is such a sweet and happy soul. She has a mutation of the gene and is able to walk, feed herself, swing, and play on the playground. However, she has very limited speech of about 3 words. She is now 11 years old and loves trains, the water, and her 5-year-old sister dearly. She is quite a good hiker too!
The cool thing with AS is that while the maternal gene of UBE3A is what is impacted we all actually have an additional copy – a paternal UBE3A gene. There has also been a lot of development in the use of viruses to deliver healthy genes to patients and some of you may have heard of these developments with cancer treatments. There is a lot of exciting work being done in genetics today and how we can help people suffering from life changing diseases!
8 years ago I trained for a marathon for the Foundation of Angelman Therapeutics, FAST. FAST works on clinical trials for treatment for AS. This year I have set an ambitious goal of running my first 100 mile race- and if you are going to sign up for one early in the season you mind as well sign up for another one. So my goal is to run two 100 mile races in honor of Jessy and FAST with the Miles for Smiles Team (http://www.miles-for-smiles.org/). My first 100 mile race will be Bighorn 100 in Wyoming on June 15, 2018 and I will finish my goal race at the Bear 100 in Idaho on September 28, 2018. Jessy will be there for the Bear 100 and it will be awesome to share this journey with her. Please join me on this crazy adventure as I strive for not only in my running goals but also in my goal of raising research money for FAST and Angleman Syndrome.
Thank you for reading this and stay posted for updates!
Elise and Jessy McKnight
*all donations are tax deductible with FAST