Wednesday, July 02, 2008

Neurofibromatosis

WHAT you say? What? This blog came in a roundabout way today. Jennifer at www.staringatstrangers.typepad.com wrote a blog about disability and a wonderful man who I met a while ago, Charlie Hall. Just go to her blog and read it - it is so beautifully written.
So, of course, I went to Charlie's blog, www.todreamtotouch.blogspot.com and read his entries. He says in one that he was diagnosed with Moebius Sydrome in the 80's but never knew there were other people with this condition. He just found out differently recently That struck such a chord with me.
Well Charlie's comment, that he didn't know there were others with his condition, blew me away because I was very, very involved with Neurofibromatosis for about ten years at least and one of the things I and the other board members of the foundation heard over and over was "I never knew there was anyone else with this".
Let me tell you a little about it and why I was involved. Someone who reads this, will either know someone who has NF or have it themselves and may not know it! NF is a genetic disorder of the nervous system. It is more common the muscular dystrophy or cycstic fibrosis, but no one talks about it because it is often misdiagnosed as Elephant Man's Disease - which it is not. One in 3500 births have NF! It can remain dormant for one's whole life or it can manifest itself at puberty, pregnancy or a major life change. It can be external NF or internal NF where the tumors are on the outside of the body or internally..........Researchers have stated that they believe that is similar to what happens with cancer cells - they are always there but there is a genetic mutation that causes them to become active - they believe a cure for NF could be a cure for cancer! At least that's what they told me 15 years ago...........
I became involved in 1982 because I had a friend who had an 8 year old little boy named David who had been misdiagnosed for 6 of his 8 years of life. I just thought that was horrible and decided to get involved with people who were trying to change that scene. Everyone who was on the board at that time had a child or family member with NF, but I had three healthy kids and I thought I needed to give back...........I didn't have money to give - but heck, I knew a lot of people and all of us worked to raise money for research and medical facilities which just 25 years ago there were very, very few of in the whole USA. Children's Hopsital in Boston finally identified the chromosome responsible for NF which was a MAJOR breakthrough and there is genetic testing now to determine if there is a possibility of NF in a fetus. Huge educational programs, both for medical professionals and the public are now in place and some day there will be a cure - there is none now. Baylor has a research chair now and so do programs in California and other places. As Charlie said in his blog today, the internet is so wonderful, he typed in Moebius Syndrome and found out all kinds of information.
I hope by writing this blog today, that if there is someone who has or knows someone who has just been diagnosed with NF, they will know there are lots of people out there for support.

2 comments:

Deb Hall ~ Zocalo Folk Art said...

Great story, great message. It reminds me that for many, blogging is power and information in addition to comfort and community. And most of all, blogging gives a voice to those who might not have been heard before. Thanks for this entry!

Babs said...

Hi Deb - It was a "lightbulb" moment for me when I read Charlie's blog! I never thought of the blog format as "helpful" but wow, the power of the internet. In addition, I have discovered that now that the headline of my blog is Neurofibromatosis, if someone puts that word in there search engine, the blog will come up! Who knew?