Today is the 1 year anniversary when Quincy was diagnosed with Angelman Syndrome. The worst day of our lives. I remember it so clearly. A phone call from a pediatric neurologist..."I was going through Quincy's karyotype results in writing a referral letter for the geneticist and realized that when I told you the karyotype was normal, I was only reading the first page, and as I read the second page I see that the microarray shows that she has a microdeletion on Chromosome 15. This means she has a condition called either Angelman Syndrome of Prader-Willi." My response "what does this mean? please spell that? Is this a devestating diagnosis" His response "Yes, this is devestating." As you might imagine, as a clinician myself, the worse bedside manner on the planet, the worst news of our lives, and a moment we can NEVER forget.
Fast forward 1 year. Here we are. Our baby, who we were told will likely never talk, walk, feed herself, or have independent living is making progress EVERY SINGLE DAY. She is a fighter, and she WILL do all of those things. She is now feeding herself, she is close to crawling, she is engaging, she is beautiful, she is happy, and she is communicating to us in her own way. This is a long road, we know that, and her milestones are more like "inch-stones", but she is making them and for every inch she moves we are SO PROUD of her and realize how hard this is for her. She is working like an olympic athlete and this will allow her to live the life she wants, and the life we all want for her.
We have made AMAZING friends, we have gotten closer with friends who have showed their true amazing colors, and our families are incredible. We are so lucky to be surrounded by the best people on the planet who love and support everything that Quincy does.
With the new therapies on the horizon, 4 clinical trials advertised this year, 2 of which are supposed to start in 2016, and the other 2 likely in 2017-2019, we can only hope that this little girl will live the most amazing life and we will be better people because of her.