For the last few years, the doctors have been keeping a close eye on my oldest son, Caleb. He started displaying symptoms for the genetic disorder called Neurofibromatosis type 1, otherwise knows as NF1. These symptons were cafe-au-lait spots, motor skill delay, and reoccurring headaches. Over 2 years, his spots grew quite large and multiplied, an MRI came back showing signs for NF1, and he had some suspicious/possible lisch nodules (tumors) appear on his back - but nothing was specific enough to make an official diagnosis and it was still a just a "guess" in the doctors opinions.
In September of this year, they decided to order a DNA test to look for a mutation in the NF1 gene. This week the test results came back - he tested positive for Neurofibromatosis type 1. So, now its official :'(
What is NF1, you ask?
It is supposed to be hereditary but almost half of cases documented do not have a parent with NF1. It is a chronic condition and characterized by skin pigment changes and neurofibromas. Neurofibromas are tumors composed of nervous system tissue (neuro) and fibrous tissue (fibroma). They arise from nerves and may appear in or just under the skin, near the cranium (skull), the spinal cord, or other parts of the body. These tumors are usually benign, but can sometimes put pressure on surrounding structures, causing pain or loss of function. In children, they can also appear in the eye around the iris. Most times, these are benign tumors, but they can be malignant. If tumors are large or malignant, they will have to be removed, but they often come back.
So what does this mean for Caleb?
Caleb is not having any major issues with it right now, but it is something he will have for the rest of his life and it means that we just keep doing what we have been doing for the last few years...optometrist appointments every 6 months to check his eyes, genetic doctor appointment yearly to check status of progression, Neurologist doctor appointment yearly and an MRI every 2 years to check for growths in the brain, and a dermatologist appointment yearly to check for lisch nodule growths. Until a fibroma tumor becomes a problem (and hopefully it/they never will), he will continue to live just like he always has. He currently has 3 suspicious tumor growths on his back, but they are very small so I'm keeping a close eye on them. He currently has over 12 cafe-au-lait spots and those continue to grow in size. But he doesn't have pain or anything like that from them - just headaches quite often.
So, I just wanted to give everyone an update on his condition.
For more info on NF1, here's a good website:
NF1 for kids: http://www.keepkidshealthy.com/welcome/conditions/neurofibromatosis.html