‘We don’t know what ‘normal’ feels like anymore. Most of us have never experienced good health. We have been ill most, if not all, our lives.’
There are over 7,000 rare diseases. The effects on people who suffer them, and their families, are often cruel and unseen by the general public.
You might think rare diseases are true to their name – rare, but if every person with a rare disease created our own country, that country would be the world’s 3rd most populous nation.
Rachel was poorly from birth; none of the specialists knew what was wrong. She spent most of her childhood in and out of hospitals, taking multiple medications for a disease no one knew the name of or how to treat. Her childhood was plagued by exhaustion, rashes, fevers, joint pain, abdominal pain so severe it required bouts of surgery and many other unexplained symptoms.
Charlotte and Mel first became ill as young children, but the symptoms of both women were so nonspecific it was easy to attribute them to unrelated, benign issues. Following a traumatic event, Charlotte’s health quickly deteriorated, but doctors focused only on finding a psychiatric cause for symptoms they could not explain. Mel has more than one rare condition, so a diagnosis would always be difficult.
In contrast to the early onset of symptoms in the other three, Zoe first became ill as a young adult. Her disease rapidly affected several organs and presented like other immune system disorders. Symptoms ranged from blood clots to rashes, seizures, exhaustion, fevers and skin ulcers.
The science behind their conditions
Rachel, Charlotte, Mel and Zoe are affected by a group of rare disorders called ‘autoinflammatory disorders’ or ‘periodic fever syndromes.’ Both names are misleading; one is too similar to autoimmune disorders, and the other alludes to a syndrome with just an occasional fever.
It is a fight to keep a positive outlook and believe that, someday, normality may return to our lives.
Autoinflammatory disorders involve dysfunction of our innate immune system (different to the one involved in autoimmune disorders). In layman’s terms, the innate immune system is the body’s first defence mechanism, activated when an invader appears. In autoinflammatory disorders this process malfunctions and our immune system goes into overdrive, behaving as if an invader was present, without an actual invader.
The battle to diagnosis and the uncertain prognosis
Regardless of the specific syndrome, every one of us spends our days dealing with unpredictable, unrelenting, disabling, life-changing episodes of inflammation in our bodies. It is a fight to plan events and commit to engagements, as you never know when a flare will strike.
The reality for autoinflammatory disease patients in the UK offers little comfort. Diagnosis and referral to specialist centres can take years. There are few specialist centres in the UK, so patients may need to travel hundreds of miles for an appointment. Many patients have multiple disorders that can trigger each other, thus blurring the picture and obliterating hope of a straightforward prognosis.
What does being rare mean to them?
They are medical oddities; doctors insist medical students meet them because it might be the only time in their careers they’ll see such an unusual disorder.
Most medics can’t even pronounce the names of our disorders, often resorting to ‘googling’ during hospital appointments or assuming we haven’t given them the correct name. In fact, because of the rarity and lack of services in the UK, many patients research their conditions and become experts in their own care.
