The past 11 months have been full of so many emotions, and this past week was no different. Matt and I attended the Foundation for Prader-Willi Research conference in Chicago and brought Hayden along. Due to the similarities of PWS and Schaaf-Yang Syndrome, the two groups are currently collaborating on their efforts.

Matt attended the research day that consisted of all the medical/pharmaceutical professionals that are digging into the MAGEL2 gene where Hayden has her duplication. He knew that a lot of the sessions would be over his head but wanted to be in the room asking questions, taking it in, and reminding these individuals working on this that we are all real people that will do anything for the children we love.

While there we had the opportunity to meet Dr. Schaaf (as in Schaaf-Yang Syndrome, Hayden’s disorder) and his research assistants. They flew in from Germany for the conference. We were very impressed with his ability to explain genetics in a way that was comprehendible and found him to be a young, intelligent, well spoken, and compassionate man that is heavily invested in finding treatment options or hopefully even better a cure.

Dr. Schaaf explained that Hayden’s situation is like going to a library and going to a shelf. All of the books are there. None are missing. But you open up one of the books and there is essentially a typo – one extra letter. It’s absolutely mind blowing and infuriating how the duplication of one tiny little letter can wreak so much havoc. Because of this she has low tone which leads to respiratory and feeding difficulties and developmental delays because her core strength is weaker than those of other babies. Intellectual disability and autism are prevalent with her disorder as is scoliosis because these kids don’t have the core strength to weight bear.

After going to the conference and meeting families and kids that are affected by this disorder, I am even more committed to helping the cause. I’m not good at asking for help. It’s something I truly struggle with because it feels like a sign of weakness. But this isn’t about me. It’s about Hayden, the 15 kids/families we met this weekend, the 250+ kids that have been diagnosed, and the ones that will come after us. These kids deserve so much more. They deserve to run, jump, taste, speak, and be independent.

With Love,
Courtney