Welcome to my blog.
4/22/2020 0 Comments I have a rare genetic disorderI have a rare genetic disorder called Neurofibromatosis Type 2. It is a complicated, lonely neurological disorder that affects our brains, spinal cord, nervous system, and skin. There are three different types: Type 1 (affecting about 1 in 3000), Type 2 (affecting about 1 in 40000) and Schwannomatosis (affecting about 1 in 40000). There is two ways to get the disorder, your parents or sporadic mutation. This disorder has a 50% chance of being passed to the carrier’s children. Type one can be found with a simple blood test while it is harder to find Type 2. The best way to find Type 2 is through the testing of a removed tumor. NF1 mutates chromosome 17 while NF2 mutates chromosome 22. Doctors are not sure about the gene mutation for Schwannomatosis. People living with NF are affected in different way but for the most part we all live with pain. NF1ers have to deal with café-au-lait spots, NF2ers have to deal with tumors, and Schwannomatosis people have to deal with massive amounts of pain. Sadly, there is no treatment or cure for Neurofibromatosis.
My personal experience: I found out I was an NF2er in October 2015. For several years I had been living with hearing loss of my left ear. I was never about to go get it checked because it costs a lot of money, something we just didn’t have. So then President Obama gave us the Affordable Care Act and because I am a registered member of the Choctaw Nation, I pretty much got 100% free health care. So, I went and had my ears checked. The doctor told me I needed to see a specialist. He did a hearing test and an MRI. Not only did I have significant hearing loss I had had two tumors on my brain and one in my left ear. The tumor in my left ear is wrapped around my vestibular nerve and at the time was pushing on my brain. Ouch! On May 4, 2016, I had radiation. I choose that route because 1) I didn’t want to have a 14-hour surgery on my head and (2) eeek pain! I live with a lot of ear ringing and pain. I have lots of pain in my head. I feel like someone stabs me and then it is over. My feet and legs bother me all the time. Walking around Wal-Mart is usually so painful I am bent over walking slowly out. I do not have much energy for even the smallest task. When I found out about my NF2 and did the research I was so thankful I never had children. I would never want to pass this on to anyone. Even though the chances are 50%, that is just too much of chance to pass it on for me. I have prepared myself and my family for my early death. Now having said all this I am still positive and have a great outlook on life. God choose me to carry this burden for a reason. I feel blessed everyday in his mercy and grace. Now I didn’t go into great detail for a reason. I want you the reader to go on the web and research. Some websites: NIH: https://www.ninds.nih.gov/ Mayo Clinic: https://www.mayoclinic.org/diseases-conditions/neurofibromatosis/symptoms-causes/syc-20350490 Texas Neurofibromatosis Foundation: http://texasnf.org/ I really hope you enjoyed this little look into my disorder. Until next time, ~April References: Neurofibromatosis Information Page. (n.d.). Retrieved April 11, 2020, from https://www.ninds.nih.gov/Disorders/All-Disorders/Neurofibromatosis-Information-Page Neurofibromatosis | NF. (2019, October 31). Retrieved April 11, 2020, from https://medlineplus.gov/neurofibromatosis.html About Neurofibromatosis. (n.d.). Retrieved April 11, 2020, from https://www.genome.gov/Genetic-Disorders/Neurofibromatosis
0 Comments
Leave a Reply. |
ArchivesCategories |