Neurofibromatosis

Neurofibromatosis is a genetically-transmitted disease in which nerve cells (Schwann cells) grow tumors (neurofibromas) that may be harmless or may cause serious damage by compressing nerves and other tissues. The tumors may cause bumps under the skin, colored spots, skeletal problems, pressure on spinal nerve roots, and other neurological problems. ^[1]

Neurofibromatosis is autosomal dominant, which means that it is autosomal (it affects males and females equally often) and dominant (only one copy of the affected gene is needed to get the disorder). Therefore, if only one parent has neurofibromatosis, his or her children have a 50% chance of developing the condition as well. Disease severity in affected individuals, however, can vary (this is called variable expressivity). Moreover, in around half of cases there is no other affected family member because a new mutation has occurred. Definition from Wikipedia.

The motivation for this post comes from the fact that Carl Edwards won the NASCAR Sprint Cup race this afternoon at Pocono. Carl is one of my favorite drivers and if I could have ever gotten my brother Ricky to get interested in NASCAR, he would have liked him too.

Now I'm sure that some of the readers want me to tie all of this together and I will.

My mother's side of the family is affected by neurofibromotisis. It has affected my sister, brother, and half sister. I consider it's just by God's grace that I was never affected.

My older half sister almost choked to death during childbirth in 1976. She also had some very unsightly growths on her face. That was compounded by the fact thatwhen she was born the doctor mishandled her with the foreceps and caused disfiguration of her right eye. Bev passed away in 1997 from brain cancer,which may or may not have been caused by neurofibromatosis.

My younger sister lives with myself and my wife. She has suffered from seizures most of her adult life, caused by this condition.

All of my long time readers know about my brother Ricky. He passed away this past March 4, after spending the last 8-1/2 years in nursing homes. His physical conditions started with seizures, then progressed to his losing his ability to walk. He was a slow learner as far as our educational system was concerned, but he made it a point to know what he felt he needed to know. He knew about neurofibromatosis.

And the reason I am a Carl Edwards fan is from something he did before he even started driving in the "premiere series" of NASCAR. Carl was driving in the Craftsman Truck Series in 2004. He had won the Daytona truck race that year and in Victory Lane he presented his trophy to a child who was suffering from neurofibromatosis. From that point on Carl has been one of my favorite drivers. I think if Ricky would have been a NASCAR fan he would have liked Carl Edwards too.