So many people have never heard of Neurofibromatosis (NF1 specifically, is the form affecting Ella), yet 1 in 3,000 people have NF1! This genetic disorder affects more people than several other genetic disorders combined. I'm not going to name them because I don't want this to seem to be minimizing any other person's pain and suffering.
There is neither cure nor specific treatment for NF; doctors can only treat the symptoms as they appear. While recently genetic testing has become available, the genetic testing is not 100% reliable and a negative result does not rule NF out. The only reliable diagnostic tools available to the medical community are:
- observance of symptoms of neurofibromatosis, such as: cafe au lait spots (5 or more) or lisch nodules on the iris.
- MRI, which is complicated enough if performed on adults, even more complicated for children.
NF never goes away. The disorder may lay dormant in one person for his or her entire lifetime, in another symptoms may appear later in life, for others symptoms may come and go their entire life.The possibilities of how or when symptoms may appear are infinite and impossible to predict.
Even more disturbing is the variety of forms in which NF1 can display itself. Tumors can grow internally or externally, ANYWHERE outside the body and ANYWHERE inside the body. Literally anywhere you can think of: minor organs, major organs, muscle, tissue, joints, spine, bone, skin, scalp, leg, face..the list goes on and on. Tumors may not grow, a person (even children) may develop extreme hypertension, cardiac problems, scoliosis, vision loss or blindness, learning and behavior disabilities (thought to be formed by spongiforms on the brain, that may or may not resolve on their own), digestive difficulties, and possibly malignancies. Some people may develop some of these, or all of these, or all of the above!
Chemotherapy seems to be the only treatment that works for the tumors. Chemotherapy has its own horrid immediate side effects, and presents its own list of unknowns for the patients future health. Medications are being researched; however at this time, none have proven effective on any symptoms.
Our only hope to change the unknowns to SOLVED is spreading awareness to bring attention to neurofibromatosis and get more research to change the future for Ella, and the hundreds of thousands like her.
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