Thursday, July 23, 2009



Was this a LONG week, or is it just me? I can't say I got a lot accomplished, unless you counts the HOURS and HOURS spent at Doctors offices, parks and splash pads!

So it's time for FREAKY FRIDAY......Today I wanted to post some FACTS about Neurofibromatosis, that maybe you never knew. For such a common disease, I find it amazing that so many people don't know much about it.


*NF is not a rare disorder, it is the most common neurological disorder caused by a single gene.
(did u know 1 in 3000 births are affected by NF? *WOW*)

*NF has been classified into two distinct types, NF1 and NF2. They are caused by different genes, located on different chromosomes.

*NF1 is the more common form of NF, affecting approximately 1:3,000 births throughout the world.
(Crazy huh)

*Both NF1 and NF2 are genetically-determined disorders which affect more than 100,000 Americans; this makes NF more prevalent than Cystic Fibrosis, hereditary Muscular Dystrophy, Huntington's Disease and Tay Sachs combined.
(WOW, huh? So why isn't more being done? Why don't more Docs know about NF? Scary)

*Both forms of NF are autosomal dominant genetic disorders which can be inherited from a parent who has NF or may be the result of a new or "spontaneous mutation" (change) in the sperm or egg cell.
(LOL....In English, this means.....NF can "just happen"...or if mommy or daddy has has a chance to get it)

*Each child of an affected parent has a 50% chance of inheriting the gene and developing NF.
(Whhhoooopppie......I wish I could play the LOTTO, with these kind of odds.)

*The type of NF (i.e., NF1 or NF2) inherited by the child is always the same as that of the affected parent, although the severity of the manifestations may differ from person to person within a family.
(This was part of the NIH research I took part in......why does NF affect everyone differently? AND...can Drs predect the severity?) Hmmmm

*NF is worldwide in distribution and affects both sexes equally and has no particular racial, geographic or ethnic distribution. Therefore, NF can appear in any family.
(NO discrimination......GReat...Thanks a lot)

*Although most cases of NF1 are mild to moderate, NF can lead to disfigurement; blindness; deafness; skeletal abnormalities; dermal, brain and spinal tumors; loss of limbs; malignancies; and learning disabilities.
(MILD/MODERATE....NF still sucks. One tumor, or thousands...I have learned that NF not only affects torments the soul. I wish all DRS had a manditory course in rare diseases, because the ones I have met...seem to have no clue. They don't seem to think NF causes pain.....with the exception of the NIH Drs, no one seems to give a damn)

*NF also has a connection to developmental problems, especially learning disabilities, which are five times more common in the NF population than in the general population.
Accordingly, NF research may benefit an additional 100 million Americans (i.e. 65 million with cancer and 35 million with learning disabilities).
(My two kids that have been affected by NF, have learning difficulties. With loving patience....I know they will be okay.)

*NF is not the "Elephant Man's Disease," although it was at one time believed to be. Scientists now believe that Joseph Merrick, the so-called "Elephant Man," had Proteus Syndrome, an entirely different disorder.

*NF research began eighteen years ago by the National Neurofibromatosis Foundation, has been enormously productive ever since.
( I am lucky enough to have participated in NF research....It was an amazing time for me....Giving back, even just a little....helps me feel like I am doing something---if you want to read about it.....just scroll down and read previous blog posts.)




  1. I so agree! I have been too so many doctors that don't understand! I also don't "look like I have NF" as I have been told. I have very few "bumps" and most of mine look more like "moles". I have been VERY lucky in that way. However I grow a lot of fibromas which have led to a lot of surgeries. Most recently one on my lung that was huge and I lost half of my lung because of it. I had so many tumors on my spine that they can't even count them.

    My problem isn't with my doctors not knowing that is causes me pain, but having the (and I have had this said to me by a doctor) "Yeah..okay you are in a lot of pain I know. You know you do have NF." WTH? Really..??? I wanted to punch that doctor in the face. The "Elephant Man" thing really ticks me off too!!! There needs to be more education for a doctors on NF.

    My Mom said it best. Why isn't there more funding/ education/etc? Because a famous person (actor, singer, etc..) has't had it or had a child with it. Sad to say...but....

  2. I'm with the above comment- we need a celeb. not even to have a kid with just to adopt the charity- the children's tumor foundation.

  3. The chick from the XFiles...has a brother with NF---she has done a lot for NF. :)