Familial Cold AutoInflammatory Syndrome (FCAS)

Since I was little, I had always found myself to be grossly unhappy whenever it was a windy or cold day. My whole body would just feel so run down, achy and I would break out into itchy hives all over. The interesting thing is my Mum also had the exact same issue, but she never looked into it further. So, we just ended up living with it as if it was just "a family thing".

Growing up, our treatment plan was always to wrap ourselves in a nice warm blanket, turn on the heater and hug a warmer bottle. By the following morning, most of the symptoms would be gone aside from a little ongoing fatigue.

However, as l entered high school, my symptoms started becoming more than just tiredness and an itchy rash... I was starting to get recurring bouts of swollen lymph nodes in the neck, making it very difficult for me to talk. In addition, I was getting "hot flushes" even though I was a teenage boy and a terrible fullness in my forehead that was absolutely debilitating.

Intriguingly, it always came on around 2-3pm and was particularly troublesome in the Autumn and Winter months. These "afternoon spells" as I would call them had began taking over my life and were occurring daily.

Recognising that my peers were not experiencing the same issues that I was and because of how disruptive the symptoms were to my studies, I decided to see my GP independently and I was diagnosed with chronic urticaria and severe rhino-sinusitis. However, it didn't explain why my ultrasound showed enlarged cervical lymph nodes and my "hot flushes" weren't getting much better with intranasal steroids.

Then in 2017, I began having significant neurological attacks, where I would become extremely dizzy and find it difficult to walk.

The left side of my body would become very weak, noticeably my left face. The attacks seemed to coincide with the evenings when the temperature dropped and it would become more windy. I was hospitalised as I had began losing my balance and was losing coordination and had also developed an issue with involuntary eye movement. No clear cause on MRI was found but my white cells did shoot up during this occasion. I was diagnosed as having a "complex migraine" but the medication they started me on only improved my symptoms by a third.

I began keeping a diary of my symptoms and taking photos of when my rashes, swollen joints and droopy eyelid would appear.

Surprisingly, it was always evening to night-time and keeping track of the weather, the disease seemed to become active when the temperature dropped below 15 degrees Celsius. I saw several different specialists and eventually met my current immunologist, we together came to the conclusion that my mum and l had Familial Cold Autoinflammatory Syndrome (FCAS).

Despite all of my clinical features matching FCAS, my genetic test was frustratingly negative. However, I was fortunate enough to have had a skin biopsy on one little lesion that was almost ready to disappear as the sun was warming the day up. That biopsy was the game-changer because it showed "neutrophilic inflammation" which is one of the hallmarks of autoinflammatory disease. I am now on medication which has helped shorten my symptoms. But ideally, I will be prescribed a biologic medicine, as there are some critical organs being involved and biologic medications will help protect from more serious damage. Had I not decided to take another chance with my current specialist after years of losing faith in being properly diagnosed, I could have become more unwell and live with significant disability.