The rare disease pathway

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I was a robust child, but a fatigued teenager. I became a nurse after highschool, but was constantly and increasingly debilitated, and didn't bounce back after days off. I always felt better during exercise but, in retrospect, persistent exercise always correlated with declining health and increasing fatigue. It can be difficult to make a diagnosis where there are multiple unknown conditions. Apart from general debilitation, I had severe stomach pain that showed up at gastroscopy as massive inflammation - this was eventually sourced to corn allergy, and eliminating corn and corn derivatives in my 30's made a big difference to my health. My debilitation remained, however, along with other issues such as heart arrhythmias, sleep disturbance, apnoea and a lack of stamina. In my mid-30's I developed cycles of the anemia of chronic disease and began to experience a strange post-exercise collapse - I would slump over, unable to move for several minutes while remaining completely conscious, followed by extreme exhaustion and the need to sleep. These episodes heralded a rapid decline in my health. In my early 40's I was diagnosed with dysautonomia - a secondary condition often caused by damage from a primary condition - and in my late 40's with Periodic Hyperkalemic Paralysis (one of the channelopathies - an inherited muscle disease). It has been a long and difficult pathway, but typical for people with rare disease - I feel as though I crawled it on my hands and knees, uphill, blindfolded. My active participation and persistence were key to being diagnosed, along with learning a key truth about the rare disease pathway - in order to get a diagnosis, you need to put yourself in front of a doctor who knows your disease well enough to recognise it from your story. In this respect, a patient needs to know their what their disease MAY be, and actively search for a doctor with expertise in this particular disease. Another truth about the rare disease pathway - I used to think that if I could get a diagnosis I would get treatment or a cure and I would go on to have a normal life. However, the 'miracle' drug used to treat periodic paralysis left me with cognitive impairment, chronic insomnia and thoughts of suicide - it was career-ending for me. Now I accept that I can be optimise my health using a range of self-management approaches, in order to live the best life possible.