I am a mutant. I'm ok with it. I have had a complete gene sequencing trying to discover what ails me. 135 gene mutations, 116 unidentified when I first got the test results. In 2014 the geneticists at KU Medical Center discovered that one had been identified, Interluken 21 receptor gene mutation (http://www.ncbi.nlm.nih.gov/gene/50615), and it causes me to have a Primary Autoimmune Disorder. While getting sick all the time has plagued me they do not believe this newly identified gene explains all the health problems I have encountered. I will meet with them again in 2015 and every year after to learn what new things they find and get referrals to appropriate specialists. I see immunology in June. I could be seen much sooner, the department believes I'll be best served waiting until the head of immunology is available. I am patient and my health issues are not currently urgent and so I am pleased to wait for the person KU feels is best suited to care for me.
I am so grateful for Medicaid and Medicare. I had private insurance for decades and they never managed to diagnose me while I was having spinal meningitis flare ups. A single spinal tap and I could have understood years sooner how ill and close to death I was periodically. Not cost effective for them I am sure. Likely since infancy, I have had recurrent bouts of aseptic meningitis. No fungal, bacterial or viral cause. Usually preceded by a CSF leak and prolonged low grade fever.
The loss of my academic career is the worst part. With a diagnosis my private schools would've been more cooperative about allowing me to learn from home, or my folks could have saved the thousands they spent every year and home schooled me. As it was, I was removed from high school my junior year because I always had a fever above 101º and only attended 27 days out of 90. I really would have enjoyed having had the health to pursue a college degree. I did try repeatedly. It's never too late, I may be able to yet! By next year the geneticists out there may have discovered what a dozen of the mutations mean. I am hopeful.
I am so grateful for Medicaid and Medicare. I had private insurance for decades and they never managed to diagnose me while I was having spinal meningitis flare ups. A single spinal tap and I could have understood years sooner how ill and close to death I was periodically. Not cost effective for them I am sure. Likely since infancy, I have had recurrent bouts of aseptic meningitis. No fungal, bacterial or viral cause. Usually preceded by a CSF leak and prolonged low grade fever.
The loss of my academic career is the worst part. With a diagnosis my private schools would've been more cooperative about allowing me to learn from home, or my folks could have saved the thousands they spent every year and home schooled me. As it was, I was removed from high school my junior year because I always had a fever above 101º and only attended 27 days out of 90. I really would have enjoyed having had the health to pursue a college degree. I did try repeatedly. It's never too late, I may be able to yet! By next year the geneticists out there may have discovered what a dozen of the mutations mean. I am hopeful.
No comments:
Post a Comment