A Guest Post by Natalie:
When our youngest daughter, Mandy, was diagnosed with Neurofibromatosis Type 1, I was completely blindsided. I had never heard of this absurdly long word with too many vowels. I promptly came home and obsessively played Dr Google, looking for anything I could find to help me understand what must surely be a very rare disorder.
Imagine my surprise when I discovered that it is more common than Cystic Fibrosis, hereditary Muscular Dystrophy, Huntington’s Disease and Tay Sachs combined and is thought to affect more than 100,000 Americans.
That is an enormous amount of people. How on earth had I never even heard of this?
More research, more reading, more sleepless nights brought me more information and yet more confusion. This disease, once thought to be Elephant Mans disease(this has since been disproved) can allow some people to live nearly unaffected by their disease.
But in others, it can cause orthopedic issues that can be severe enough to lead to amputation. Some people can have as little impact as some birthmarks called cafe au lait spots, while others can have brain tumors that can lead to blindness and even death.
There are learning disabilities in 50% of cases. There can be dramatic disfigurement caused by benign, but nonetheless nasty tumors called neurofibromas, or a certain type of rare leukemia, seizures, a cancer called malignant peripheral nerve sheath tumors, scoliosis, endocrine issues….the list went on and on.
I was officially overwhelmed. And. Scared. Out. Of. My. Mind
I was hungry for information and the more information I had, the more questions I had. I searched in vain for a time line, a prognosis, some idea of what this diagnosis meant to our little girl.
How could I help her?
What did we need to be on the lookout for?
What was going to happen?
We prayed that she would live a largely unaffected life. All too soon, it would become painfully obvious that Mandy’s case was going to be far more complicated.
However, all that Dr Google time has led to some resources that have proven incredibly valuable.
The Childrens Tumor Foundation
The most comprehensive NF resource available, with a wealth of information about NF1 and 2, clinical trials, NF clinics and discussion boards
Great information for patients, parents and clinicians
National Brain Tumor Society
They provide information on various brain tumors, financial assistance, caregiver workshops
National Center for Learning Disabilities
National Federation of the Blind
The possibilities of NF related problems are wide and varied. I hope some of the resources will help in your search for answers.