The post below was beautifully and eloquently written by Chase's Mom, Annie Johnson Kuehl, and shared with her permission, as are all of the posts here.
Finally ready...Chase’s Diagnosis:
So many of you have been reading about our journey with Chase this past year. It’s been bumpy. Along the way we have always known that he is extremely special. Mind blowingly special. Our most recent trip to the hospital was due to a 45 minute seizure on 1/6/2012. There were many tests that happened in the days following, all came back normal except two. We knew his EEG and his MRI were abnormal. So we were getting used to the idea that there was more to his delays, seizures and medical issues than we thought. We were at one of many follow up appointments last week when we found out the news. We were meeting with a genetic counselor and a dysmorphologist. They pointed out some abnormal features on Chase that would probably go unnoticed to most people but that clearly indicated to them that there was something genetic going on. While we were in their office trying to solve the mystery together, the lab called with test results on his dna. There was a significant deletion on his 22nd chromosome. This knocked the wind out of me. Especially as I saw how interested and intrigued the geneticists were. The deletion pointed to Phelan-McDermid Syndrome. A very rare genetic disorder. With somewhere between 400-600 diagnosed cases in the world. But we do have a diagnosis. Some people never get one.
As anyone can imagine... we were shocked. And we’ve gone through every emotion in the past week. This will change our lives. We will need to learn how to provide for Chase in a way we are completely unfamiliar with. We will need to find additional resources to help us do so. We will need to learn everything we can about this rare disorder and teach doctors, therapists, family and friends all about it.
It also will change our lives in a way I didn’t think about at first. This was meant to happen. To us and to Chase. We will learn to love and communicate in different ways. To set goals but to also not set limits. To tolerate and teach. And to celebrate every moment we can. We ultimately have a choice on how to feel at any given moment. I know that hard times may lay ahead but so do good times. Just like in everyone else’s world. We always have a choice to be positive and happy. I’m trying to follow that and I’m learning hour by hour.
We are always in need of support, advice, prayers and friendship. If there is any information or kind words that you think will benefit us in any way, please do not hesitate to pass it on.
Ultimately, we will be the very best family we can to Chase. He’s in good hands but it will take more than us to give him the best life he can have. Thank you to all our friends and family for being with us through it all. We can feel the love.
Lastly, I am attaching some links in regards to Phelan McDermid Syndrome. Awareness is essential. Ask me any questions that you may have. I will not filter information about this disorder. This is a learning experience for everyone. And stay tuned….there will be many updates along the way!