Undifferentiated Systemic Autoinflammatory Disease
Over two years ago I fell ill with what I thought was the flu. I had the classic symptoms one would get before a viral illness become apparent; feeling weak and fatigued, not wanting to do much, struggling to concentrate and get through the workday. A month later, no flu arrived but I was becoming disabled by this lack of energy - unable to exercise or keep up with work. I struggled to manage basic tasks like cooking a meal and tying my shoelaces.
A GP visit revealed persistently high inflammatory markers on a range of tests, suggesting "something" was wrong. After a year and a half, multiple medical conditions were ruled out by several specialists, and 40-odd tests later, I was still without answers or treatment. I tried adjusting to the idea that I might have to manage on an unknown medical disability for the rest of my life, which left me pretty gutted.
I was in my late 30's and still had a long "exciting stuff to do" list and was hitting the height of my career and I felt short-changed.
I was sent to Rheumatology, where I learned that long-term high inflammation cannot just impair quality of life but can be harmful to the organs. Treatment was needed to lower the inflammation and prevent organ damage. Two Rheumatologists found no evidence of Autoimmune disease but one suggested I may have an Autoinflammatory disease caused by a genetic mutation.
My genetic test was normal, but my country does not have access to advanced testing. My doctor explained that genetics research on Autoinflammatory conditions was still in its infancy. To test the theory that I might have an Autoinflammatory diseased I trialled Colchicine. The trial was successful and I am now enjoying a mostly "normal" and energetic life again, despite having a tentative diagnoses of undifferentiated Systemic Autoinflammatory Disease (uSAID).
I learned during this journey how others usually take much longer to be diagnosed. Clinician training is limited, as is research knowledge and resourcing. I have realised my country's healthcare system has no rare disease strategy, and none of the "gold standard" treatments for Autoinflammatory diseases (specific to interleukin-1 beta inhibitors) are available via public funding. Biologics are very costly and obtaining them must be self-funded by the patient.
I live with uncertainty and concern should the colchicine fail in the next 50 years of my life, as there is no guarantee of a funded alternative treatment option. It frightens me that I could end up being disabled and with organ damage. Limited access to biological drugs and extensive genetic testing makes my diagnosis tentative.
It is frustrating to be unable to rule in or out my disease and identify the responsible gene, which means, there is no long-term expectation regarding my condition. It is concerning as I age, will doctors have more information and training on these Autoinflammatory diseases to link future symptoms to my condition.
I am so grateful to my doctor who took the time to learn about my disease and for the progress I have made in understanding my medical issues. New Zealand has a long way to go to identify and treat Autoinflammatory diseases.
Patient B. New Zealand (uSAID)
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