The Albino Zebra
One of the things that they teach new physicians is the phrase “When you hear hoofs, think horse, not zebra.” The principle is quite simple — the odds are the patient has the more common diagnosis than a rare, improbable one. When I said to a Mayo hemotologist that I was a bit of a Zebra, he laughed and replied, “Dan, you’re an albino Zebra”. Read on to find out why-
As many of you know, I’ve had some health issues since late in 2013. I got my flu shot, as I had for several years, in early October 2013. Within 10 days or so I started having some symptoms. I’d have a couple days of feeling normal, then a couple days where I felt like I was getting a cold – runny nose, etc., and then a couple days with chills and fever and then it would start all over again. “I just didn’t feel good”.
In mid to late November the cycle was continuing but more severe. I started to also have:
∙ Less energy, tired.
∙ Extremely red eyes
∙ Fever that wouldn’t go away
∙ Skin rash on arms, legs. Bumps, but not itchy.
∙ Developed a large swollen area on my neck
∙ Had lost probably about 15 - 20 pounds since 1st part of October.
I went to Dr. Steinmetz in River Falls, WI. He immediately did blood tests and a scan on my neck. He sent me to be admitted to United Hospital on December 4th. I developed a couple new symptoms while in the hospital – very swollen and sore ears and nose and swelling in joints. They did a scan and biopsy on my swollen neck, both were negative. They clinically diagnosed me with Relapsing Polychondritis a rare auto-immune disease. They immediately started me on 60MG of Prednisone a day and tapered this gradually until I was to be off it completely around the 2nd week of May. They also started me while in the hospital on 15MG of Methotrexate, taken once per week. The symptoms disappeared very quickly and I was discharged after 4 days at United.
Many of my blood tests were “off” when in the hospital, especially the “sed rate”. Most improved gradually while tapering the Prednisone and staying on the Methotrexate, but the Sed rate never went back to normal. Some of the blood tests (red count, hemoglobin, others) did not improve and I think the doctor felt it may have been because of the continued Methotrexate.
The rheumatologist’s original thought was that the low blood tests were caused by the Methotrexate and the Polychondritis but they haven’t improved with time and taking away the Methotrexate. I did have a bone marrow test around June of 2014. The hematologist, Dr. Schwerkoske, said the test was basically normal except that the marrow was “hyperactive”.
I was referred to Mayo in Rochester at this point, because of abnormal blood results, especially low hemoglobin. I started requiring regular blood transfusions. I went through a few years of seeing doctors at Mayo and they tried innumerable medications on me. Prednisone kept my Relapsing Polychondritis somewhat under control, but the blood issue and transfusions continued. The hematologists felt that if the Polychondritis could be brought under even better control the blood issues would go away. The Rheumatologists felt the Polychondritis had nothing to do with the blood issues. I was caught in medical Hell with the doctors not being able to agree. I underwent 8 bone marrow biopsies over about 8 years and all showed nothing except the marrow was “hyperactive”. The time between transfusions varied, but in roughly 2019 it became a steady pattern of needing a blood transfusion every two to three weeks. As of now, I’m requiring transfusions about every 10 days.
Stay with me, this is where it gets interesting-
I belong to a Facebook group for Relapsing Polychondritis (RP) patients. Through that, I found that there is a doctor at the National Institute of Health in Washington DC who is doing substantial research on RP patients, in part because she herself has the disease. RP is very rare, but even more rare are patients like me who have RP and have these blood issues. She is doing research for both. She posted a question on the Facebook group asking if anyone had blood issues and needed frequent transfusions. Of course, I replied. She called me and we had a long discussion. A colleague of hers, in late 2019, had found a genetic mutation which may be causing these blood issues in cases like mine. I sent a blood sample out to Washington and they found that I do indeed have this genetic mutation. She asked that I come out to Washington for a week for testing and evaluation. Almost begged as a matter of fact. Of course, I agreed. Sue and I went to NIH for a week in March of 2020. Having Sue along was a great help as it was all a bit overwhelming for one person to take in everything that was done and said.
The first day at NIH started with them drawing 30 vials or partial vials of blood. Another 30 on Tuesday along with a bone marrow biopsy taking 15 sections of bone marrow. They only took 8 vials or partial vials of blood on Wednesday. Some of the blood was to do immediate research on me and some is to be frozen and analyzed later as part of the research project and compare as they test other people with the same condition. Our first meeting with the doctors was Monday. The three main doctors are Dr. Peter Grayson, Dr. David Beck and Dr. Marcella Ferrada. Absolutely brilliant people, but also very, very personable.
Although they’ve been researching RP for several years, they just recently found that a very few of the cases they looked at had the trait that I do – needing frequent blood transfusions. Blood issues are usually not an issue with RP. They went back through their records and found 25 former/current patients they had and studied for RP that had this blood issue. All are men and “older” like me. They took the saved blood samples from these men and eventually found a genetic mutation in the blood of all 25. Prior to the trip they had checked my blood and found I also have the mutation. Their short-term goal at that point was to publish a paper which they hoped other doctors would read and be able to identify other patients with this mutation. Keep in mind the vast rarity of this. I was one of 25 men IN THE WORLD to have been identified to have this mutation. Their paper was published in the New England Journal of Medicine. The NIH doctors said the men that have this disease have remarkably similar conditions from the disease – loss of body mass, change in skin and complexion, etc. Just like I’ve had. Since the paper was published, they have now identified about 75 men in the world with this condition.
This is all extremely cutting-edge stuff. Mayo had done all their most advanced genetic testing on me and had not found this mutation. At one point Dr. Grayson at NIH looked at Sue and I and said “you are making medical history with this.”
The genetic mutation condition has been named “Vexas Disease”. Here’s a link to the Journal of Medicine article:
https://www.nejm.org/doi/full/10.1056/NEJMoa2026834 Here are a couple more “plain English” articles on Vexas:
https://www.nbcnews.com/health/health-news/vexas-syndrome-scientists-discover-rare-deadly-inflammatory-disorder-men-n1244912 https://www.nih.gov/news-events/news-releases/scientists-use-clues-human-genome-discover-new-inflammatory-syndrome Because it is so new and rare, there really isn’t a set treatment protocol. It’s up to patients like me to try what the doctors suggest in hopes that current and future patients will benefit. I’ve been on countless drugs through these past few years and none have ever helped. My Mayo doctors in consultation with the doctors at NIH feel that a stem cell transplant is my most likely option for a significant treatment. The issue is, this is all so new, a stem cell transplant has only been tried twice before in the world for this condition. Fortunately, it has had good results for these men. I’ll most likely be the 3rd in the world to be treated for Vexas by Stem Cell transplant.
