My name is Ian and I have been diagnosed with VEXAS Syndrome.
In 2017, I started suffering some rather bizarre floating pains. One moment the pain was in my thighs, at other times throughout the day, it would move to my ankles, shins, arms. At other times, it would be everywhere. At the same time, I suddenly started to suffer from Tinnitus.
After a couple of months of believing that it would just clear up by itself, I saw my GP. He said as I had an office job, I should exercise more. So, I started walking everyday. After two months, with the symptoms worsening, I went back to my GP. At this point I began a series of tests. Full blood workup, ultrasounds, cat scans, and MRIs.
Nothing was detected in the test results, so my GP suggested that I see a Psychologist. I saw the psychologist for a few months, but we were unable to gain control of the symptoms from which I was still suffering.
The best advice I can provide to anyone else on this journey is to advocate for yourself.
By this stage it was 2018, and I decided to give up on the medical profession, and just put up with it. As 2018 became 2019, then 2020 the symptoms kept increasing. Any semblance of sleep was just about impossible due to the pain, and there was no comfortable sleeping position available. Lethargy was intense; getting ready for work was requiring several rest periods. I was no longer physically capable of working as an Operations Controller for a very large bus depot. I swapped roles to become a building roster clerk which allowed me to work from home when required.
The breathlessness and lethargy increased to the point where I cold no longer even walk to the staff cafeteria. My face became swollen and one eye was swollen shut. I was covered from a purple rash from my neck to my shins, which fortunately was not itchy. Still I persisted until I collapsed at work in early December 2023. I was taken to a major hospital in Sydney I was admitted into the Rheumatology ward. They were uncertain as to what my disease was. I had daily blood tests of several tubes each time, ultrasounds, cat scans, MRIs, and finally a PET scan. By this stage it was the last week of December, and although still awaiting any form of diagnosis, I was discharged from the hospital. I was provided with enough pills to choke a horse. Steroids, antibiotics, anti osteoporosis, blood thinners, and thyroid medication to name but a few.
I had the follow up scans as requested by the hospital, however, I rapidly became disenchanted with the post discharge care. I tried contacting several private Rheumatology specialists and finally ended up consulting one. He was non nonplussed as well, but took photographs to show the other specialists in his practice. Thankfully one of the other consultants for the practice recognised VEXAS from the photographs he was shown of me.
Even though it was further away from where I lived, I was able to move my care to the consultant that recognised that it was VEXAS. I am so glad I did. This doctor was calm, through in his explanations of the basis for my diagnosis when I saw him in late March 2024.
At this stage, a gene analysis that was ordered back in December had finally returned; as expected, I was positive for VEXAS Syndrome with my disease causing variant as MET14THR and a changed (mutant) gene percentage (VAF -Variant Allele Frequency ) of 59%.
I then embarked on the “usual” course for the treatment of VEXAS. High doses of Prednisolone with the intent to wean off it slowly. To aid this, several steroid sparers were tried over the next 15 months. These trial drugs were Methotrexate, Tocillizumab, and Baracitinib. Each of these were meant to block inflammatory signalling, and thus allow the steroid level to be decreased safely.
Each time I tried to reduce my Prednisolone, a VEXAS flare would occur, and a large jump in the steroid level was required to regain control. So, in conjunction with my immunologist/rheumatologist, my Haematologist recommended Azacitidine, which is a chemotherapy treatment with the intention of acting as an Hypermethalating agent. At this stage. My VAF had reached 73% and was gradually increasing.
Now, in March 2025, after 9 months of weekly chemotherapy, the improvement has been dramatic. My Prednisolone level is much less and dropping each month. My rash has disappeared, and my blood work is almost normal and stable. My VAF is now 25% and falling each time it is analysed. Most importantly, I feel so much better than before.
There is still a way to go, but I am hopeful for a positive outcome.
The best advice I can provide to anyone else on this journey is to advocate for yourself. Do not accept blindly any specialist’s word for it but question. This disease is still so new, and without any recognised treatment pathways, you are right to request all the information that they have. Then, if you’re not happy with your treatment, find another specialist team.