I was originally misdiagnosed with Essential Thrombocythemia in 2018 by a hematologist at the VA Hospital on Long Island based on labs and a blood smear. She said, “I know what’s wrong with you and I know how to treat you”. I didn’t believe a word of that because I’m a MIT science guy. Her diagnosis was not based on science. I called Sloan and several days later I had the BM procedure and a molecular panel that analyzes 400 blood genes for mutations. The BM results indicated MDS/MPN-RS-T and the molecular panel indicated the JAK2, SFB31, and SRSF2 gene mutations. Based on those results I was put on a daily regimen of 500mg Hydroxyurea and a 81mg aspirin. Sloan wrote a letter to the VA stating MDS/MPN-RS-T is incurable absent a stem cell transplant and I would be a Hydroxyurea indefinitely or until this blood cancer mutated to full blown leukemia. Turns out the standard protocol for this disease it’s a daily regimen of Hydroxyurea and aspirin for anyone over 65.

Regarding the Axonal Neuropathy- this sucker is more of a problem that the MDS/MPN-RS-T thing because it really effects my quality of life on a daily basis. The geneticists at Cornell won’t prescribe anything to alleviate the spasms and tingling until they know what my actual diagnosis is. Turns out many forms of Axonal Neuropathy are caused by gene mutations or low levels of one or more proteins. The trick is to identify which genes have mutated and what protein levels are missing or are either too low or too high. I have tried the standard drugs for nerve pain but they don’t work. So we wait for the results of the Exome Sequencing tests.