What is Neurofibromatosis Type-1?

What is this Neurofibromatosis Type-1 that I talk about, other than the fact that it is REALLY hard to pronounce.

Well, in short, NF-1 is the most common neurological disorder to be caused by a single gene.  It affects 1:3000 children.  Anyone who has NF-1 has a 50% chance of passing it to their children.  It can also happen spontaneously.  NF-1 tends to be pretty mild to moderate in how it affects people, but can also cause disfigurement, blindness, skeletal abnormalities, tumors (on the skin, brain, and on the spine), loss of limbs and malignancies.  It can also cause learning disabilities.  NF-1 can also cause some developmental problems, which is five times more common in the NF population than in the general population.

Contrary to popular belief, NF is NOT the Elephant Man’s Disease.  John Merrick actually had Proteus Syndrome.

How does one know if they have NF-1?

There are eight criterion.  To have NF-1, someone has to have two or more of these:

  1. Family history of NF1
  2. 6 or more light brown (“cafe-au-lait”) spots on the skin
  3. Presence of pea-sized bumps (neurofibromas) on the skin
  4. Larger areas on the skin that look swollen (plexiform neurofibromas)
  5. Freckling under the arms or in the groin area
  6. Pigmented bumps on the eye’s iris (Lisch nodules)
  7. Skeletal abnormalities such as tibial dysplasia (bowing of the legs), or thinning of the shin bone
  8. Tumor on the optic nerve that may interfere with vision

So you have NF-1.  What does that mean for you?

My parents had NO idea when I was born that I had NF.  My father had it, but it didn’t affect him that much (other than a couple of neurofibromas and the fact that his father had NF-1 as well).  When I was born, my left tibia was broken.  11 months later, I broke my fibula.  It was around then that I was diagnosed.  Other than the obvious (the family history), I have cafe-au-lait spots, neurofibromas, and the skeletal abnormalities.  I also had a neurofibroma on my brain that needed monitoring by an MRI.  I broke my leg one more time when I was 3 1/2, this time my femur (not a result of my diagnosis but because of the cast I was wearing – I slipped on a wet floor and the bottom portion of my left leg was stabilized by a cast.  Obviously, my femur was not.  How I am walking today is a miracle).

5 1/2 years and 13 operations later, I was able to walk on my own.  I had an external fixator called the ilizarov on my left leg that is commonly used for dwarves.  The point is to have pins in the leg inserted into the bone.  The pins are turned every day a few centimeters and that puts new layer of bone down and ends up lengthening, and strengthening, the leg.  I am eternally grateful to the doctors and nurses that made this all possible for me.  In January of 2012, I had my final MRI and was discharged from my neurologist.  I just need to keep up with my regular medical providers to make sure that I am okay and that everything neurologically is working correctly.

Yes, I know that I have a 50% chance of passing this along to my children.  It doesn’t mean that I don’t want any…C and I are hoping that we will be able to have a family.  I was very open with him when we started dating (it’s kind of hard to not notice the scars on my left leg which are a constant reminder of what I went through) and made sure that when we were really serious and were talking about what we want in the future that this is a part of who I am.  I am thankful for the fact that he is so supportive and understands that there might be some hardships, but still wants to take that chance.

I saw someplace once “I have NF, but it doesn’t have me”.  I have never let my diagnosis stop me.  I still exercise and live a normal life.  I go hiking with C.  Okay, I don’t go on waterslides and go skiing (doctor’s orders…he has had patients rebreak their legs when someone fell on it on a waterslide) but really, what am I missing?  My experience brought me to the career path I have taken, which is something that I wasn’t expecting to take when I had my job working as a camp counselor at an overnight camp for children and young adults with disabilities.

If you have further questions about my experience, please don’t hesitate to ask.  I don’t remember too much because of my young age, but I will do my best.

All information pertaining to neurofibromatosis Type-1 comes from The Children’s Tumor Foundation website at http://www.ctf.org/

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