Sunday, August 03, 2008

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.

13 comments:

struke said...

Cliff...off topic here. Your jukebox is great. I just listened to the Sanford and Son theme (which was composed by Quincy Jones) and then I heard The Price Is Right. Great stuff!

74WIXYgrad said...

Thanks Struke. Hope things are going well for you in the Glass City. Have you been to Tony Packo's yet?

Diamond said...

psssstttt...hope all is well!

Missed ya!

Bella said...

Cliff, sorry, but gotta pass this one up!

You know...being a "recovering hypochondriac" and all.

Not allowed.

HAHA.

TTYL,
Bella

Liquid said...

Race was great and funny thing, I thought of both you and Ricky!

Great post dear sir!

Jen said...

I had some catching up to do...go back and read. Although this post makes me sad, Your brother was a lucky guy to have you as a brother. It's so nice you are still taking him along with you to the races and ball games.

Pat Jenkins said...

i will root him on as well wixy!!

Daisy said...

I don't really follow the races, but Carl sounds like someone to root for to me! :)

Amber said...

Hi Cliff, thanks for this post. My brother also has Neurofibromatosis and just yesterday he had a seizure. I was quite worried because it was the first time that he had a seizure while he was awake (most of the times he's asleep). I really think that people should be more aware of the condition. I really know how it feels to see a brother suffering from a condition that has no total cure. If only I could do something to help people with NF.

Joe Gunn said...

Sorry to hear about your brother. The NF Endurance Team will be running the Cleveland Marathon at the end of May. We're trying to raise awareness and money for a cure through endurance events. If you might be interested in supporting the team on race day, I could get you more info. Thanks for spreading the word about NF!

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