What does Jameson have?

I often get questions like this....what disease does he have? What's wrong with him? I tend to be a little wary of explaining little man's diagnoses too in detail for people, mostly because I don't want to over-explain medical things and get people confused. So in the spirit of sharing and being open with all of our friends and family, I'm going to attempt to explain Jameson's genetic disorder again. (And hopefully in a way that's easy to understand)  :-)


We don't have a specific gene mutation (that the scientific community has found yet) that can help explain all of the medical issues that Jameson has. He has had a whole exome sequence done, which maps the body's entire genetic sequence looking for any mutations to help us understand him better. Since this science is still so new, his results have been put into a research study at the Mayo Clinic to try and determine if he has a new genetic disorder that hasn't yet been discovered. Since we don't have specific answers yet, its easiest for us to understand Jameson (medically) by putting him into two separate disorders.


The one most people understand, as we've had this diagnosis for nearly his entire life, is Cornelia deLange Syndrome. Its a genetic disorder that affects a lot of systems in the body including his small body size, Gastrointestinal problems, hearing loss, and distinct facial features including long eyelashes and thick hair. 


The second category that Jameson falls into that less people understand is something called Pontocerebellar Hypoplasia. This is a group of related conditions that affect the development of the brain. Sometimes you can point to a gene that caused the disease, and sometimes you can't. With PCH, the pons and cerebellum in the back part of the brain just never fully develop when the baby is growing. Unfortunately, its not something that can be re-grown later, and much of the time it will lead to degeneration of the brain. (Similar to Parkinsons or ALS)


Reading about PCH on the internet is very sobering. Many of the children don't make it to the second decade of their life, and I've known many parents and children through online support groups that have passed too soon. I don't like to talk about this stuff a lot because I don't like people to feel sorry for Jameson or for our family. I like to think of Jameson's life as having a purpose that is beyond my own understanding. However long God chooses for him to be on this earth with us will be a gift. And when the time comes for the Lord to take him back, we will be glad for the time we had with him and know we made each day count.


Love to you all and thanks for being our support!