On January 7th, 2016my husband Matt and I picked up a seventeen-day-old foster baby from the NICU.
Her name was Avery. We knew the cards were stacked against her because of the way she came to us, but honestly, we had no idea. What started as developmental delays, and what seemed like possible hearing loss, led us to multiple specialists. By the time we ended up at neurology, tremors had started and she was lacking reflexes. I convinced neurology to do a genetic test along with the MRI and EEG and we waited.
I remember the exact place I was when the phone rang with the news that Avery had a deletion on a chromosome and it could either be Angelmans or Prader Willies syndrome. We needed to go to a geneticist — they needed more blood to be sure. But I knew...I had taught adults with both of the syndromes. I knew she had Angelman's and I knew the implications.
As Avery's case progressed it became clear she would become avaiable for adoption. I sat across from the lawyers and they asked again, just as they had every time we learned of a new challenge. Would we still be willing to adopt? Our answer was the same. Nothing anyone could tell us would change wanting to adopt Avery. While nothing had changed about our desire, we were beginning to learn how extraordinary she really was.
I sat in the geneticist's office and listened: "...no functional speech....severe intellectual disability .....may never walk...seizure disorder....sleep disorder...no treatment...no cure...."
I let the words wash over me. I got up, walked into the parking lot pushing the stoller with my baby who had more cards stacked against her than I had ever imagined and as I lifted her into her seat, I whispered in her ear: "They are full of it. Do not listen. We will walk back in there one day and prove them wrong."
I had already started researching. I had already found Foundation for Angelman Syndrome Therapeutics . I had already looked at their Roadmap to a Cure . I knew already that the question wasn't if they found a cure but when. I knew the research was there. I knew a cure was immeninent.
Every day, I make a promise to Avery as she struggles and fights to do things that come more naturally to babies who don't have a partial chromosome deletion. I tell her if she fights, I fight. If she pushes, I push.
So here is my push. FAST is so close to a CURE. A CURE. A cure that would mean I could hear Avery's voice. A cure that could mean a life without seizures. A cure that could mean cognitive rescue. So here is what I am asking and pleading: Would you partner with me? Would you join the fight?