New Diagnosis

Hello Family and Friends,

Chris and I thought it would be a good idea to have a blog for Christopher now six years old. As most of you know our journey has been a tough one. This is a brief explanation of his story.

I had a wonderful pregnancy and had a horrible labor experience. Christopher was born emergency c-section after 24 hours of labor. We were told we had a perfect baby. At six months we knew there was a problem. Some knew sooner.

We called in early intervention and he had PT, ST and OT until 3 years old. We also started an alternative therapy called ABR since he was 2 years old to present. I preformed this therapy 4 hours a day manually. I will explain ABR later. We brought him to Children's Hospital Boston and was told at first he had Hypotonia. Then months down the road with no milestones advancing we went back to Children's. We were told he had Spastic Quad Cp with Dystonia. So I researched everything I could about Cp every day. Joined support groups etc. Our job was to do everything possible for our son. He started a wonderful special needs school when he turned 3 and is having a great time on the computer and playing with his classmates.

After his sixth birthday Christopher started biting his upper arm and wrist. We thought it was out of frustration since he is non verbal. After he lost his first tooth he started biting his lower lip non stop. I had to make a mouth guard for him to wear 24/7. I called Children's and talked to his Neurologist Dr. M Fayad and we started some new medications for his muscle spasms and for the self injury. He never stopped biting his lip. His PT called and a friend saw a show on TV The Boy Who Bit Himself. I did research and immediately knew he had Lesch Nyhan. I called Children's and had his blood work done along with mine because the mother is usually the carrier. It was confirmed he has the disease I was not the carrier. We found two wonderful dentist's Dr. Perlman and Dr. Koidin who made a great mouth guard to stop the biting and a orthopedic specialist John Wall that worked with me on some arm splints so he can not knock the guard out.

So here we are on a new journey. Not a fun one indeed. I have already contacted Dr Nyhan and we have some wonderful new Dr's from Children's. I am now doing research on Lesch Nyhan everyday. I will keep you posted and will be adding more information to this blog soon. Including photos, links, fund raisers, etc. Please pray for Christopher as he has a long and hard journey ahead of him.

Love,
Lisa, Chris, Christopher and Ryan