It might give more perspective if you read the post immediately following this one before reading this one.
I’m going to simplify this as much as I can. Dr. Pandit diagnosed me with MDS. Myelodysplastic syndrome-MDS is a rare precursor to blood cancer that inhibits production of blood cells. My red blood cells are the ones that aren’t being manufactured correctly. Left untreated, there’s a strong chance that MDS can develop into leukemia. The good news is that my MDS was caught early.
For this reason, he referred me to Winship Cancer Institute at Emory University Hospital.
At my first appointment with Dr. Amelia Langston, she had reviewed the report from my bone marrow biopsy and didn’t see evidence of what she called a “smoking gun,” a clear set of signposts for MDS. She asked if I’d ever been overseas. I told her that I had travelled extensively outside the U.S., but the bulk of my travel was over ten years ago. She suggested I go to an infectious disease doctor, and then to a rheumatologist, to see if they could shed any light on what the hell was going on. They couldn’t find any problems.
At the same time Dr. Langston told me that she would request further examination of the bone marrow biopsy sample I had at Piedmont Hospital including more notes and questions from the pathologist due to my skin lesions and inflammation, specifically relating to a syndrome called VEXAS.
To put this simply, Dr. Langston’s request for more information from the biopsy showed that I have VEXAS. It sounds glamorous. It’s far from it. VEXAS is a newly discovered, extremely rare syndrome, and it’s what’s causing the MDS. The name VEXAS is actually made up from the first letters of each of the unique qualities that differentiate it.
The V is for Vacuoles-lipids present in the immature red blood cells.
E is for the E-linked enzyme, which is integral in correct formation of the blood cells that’s being inhibited by a genetic mutation.
X refers to the X chromosome-men only have one X chromosome so men are more susceptible to the malady.
A refers to autoinflammatory response-which means that one of the determinant factors of VEXAS is inflammatory responses, that I can trace back to my right testicle, my left eye and all the pop up inflammations that I’ve soldiered through.
The most insane of all is the S-it stands for somatic-meaning that sometime after I was born I experienced a genetic mutation.
I keep wracking my brain to come up with when this UAB-1 genetic mutation might have been unleashed in my body-was it from working around radioactive materials when I was in the Air Force? Was it an HIV Vaccine Clinical Trial I participated in at Vanderbilt? Too much ibuprofen?
It’s a good news/bad news situation. The good news-actually great news-is that after six months of not knowing what craziness was going on in my body, we finally know what the culprit is. There is some less good news. The only treatment at the current time to keep VEXAS from advancing is a bone marrow transplant. Once the decision was made that I’ll be getting what’s actually a stem cell transplant, Emory already has a donor sample with ten HLA markers that line up with mine, so there’s already a donor available that I’m compatible with.
As long as all the stars align, I’ll be checking into Emory Hospital Friday October 20th to begin the preparation for the transplant. The process is amazingly complicated but it’s gonna keep me around until I’m old.
Even though it’s going to be difficult, and I go through waves of anxiety on the regular, I’m doing my best to keep a positive outlook. I have a lot to be thankful for. It helps that my husband Mark is a Nurse Practitioner and is the kindest person I have ever met. I have a donor already lined up who can donate his stem cells within the timeframe needed to make this all happen. I live close enough to Emory so that if anything comes up, I’m a 20-minute ride from the hospital. I have tons of support and love coming from family and friends.
So yeah, I’m a lucky man.
The Wil World 