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Receiving a rare diagnosis’ is the second part Jessica Grace’s ‘Medicine beyond the textbook’ blog series. The blog posts, released every two months, share Jessica’s stories and thoughts as both a medical student and rare disease patient.

I remember exactly where I was standing when I received the phone call. They knew what was wrong. Neutrophilic Panniculitis.

I had never heard of it, but relief flooded through me. I remember just thinking that everything was going to be okay.

Two days before my 21st birthday, my life had changed forever. There had been months of agonising pain, every second of every day, with no reprieve.[/two-third]


My condition had caused lumps to form all over my body and my strength was slowly being drained away as I battled the systemic effects of the illness. I was on a cocktail of heavy-duty analgesics and had tried everything from acupuncture to joint injections, but the pain only seemed to get worse.

I was unable to walk or even sit; bent over like an old woman. My bones protruded underneath my baggy clothes because I had lost so much weight and dark circles rimmed my eyes.

I had seen doctor after doctor, but no one knew what was wrong, and many were all too eager to dismiss my symptoms. So to finally have an answer – it seemed like a miracle.

I realize now, however, that my studies as a medical student had given me a somewhat naïve outlook of the practice of medicine – take a history, make a diagnosis, treat the patient; with the aim of either curing, or at the very least alleviating, the patient’s symptoms.

However, this one-dimensional conceptualization of medicine fails to recognize all those patients for which there is no magic treatment; for which a diagnosis is not the end of the journey but only the beginning. This is particularly the case for rare disease patients, who suffer from conditions that typically have no quick fix.

For these patients, diagnosis launches them into a world filled with uncertainty. Google searches may yield very little, and they may not know anyone with the same condition in their own country, or even the world.

Little did I realize, I was to become one such patient. I had many questions, the most pressing of which was would it ever get better, but no one could give me the answers because they simply did not know.

Although some rare conditions can be effectively managed, for others, a diagnosis does not change the outcome, which may range from life-limiting to life-threatening.

Such diagnoses can be very difficult for patients and their families to receive. Initial feelings of relief at receiving a diagnosis may be replaced with fear, anger and feelings of ‘why me?.’

Nonetheless, even when a condition is not curable, a diagnosis still provides a platform from which patients can gain support from others with similar diagnoses, identify medications that might help symptoms, and better predict what the future might hold. Far from being just a label, a diagnosis can empower both doctors and patients.

Although the symptoms of rare diseases differ, these patients often share common experiences. In particular, many patients still wait months or even years to obtain an accurate diagnosis, during which time their condition may worsen and they may be given inappropriate treatments or interventions.

Medical school teaching tends to glide over rare diseases, focusing instead on the common conditions we are most likely to encounter in clinical practice.

This is logical given the myriad of different conditions doctors are required to recognize, but it perpetuates the false impression that rare diseases do not have that great an impact.

For the 350 million people living with these conditions worldwide, this is far from the case.

As for me, there was no magic cure for neutrophilic panniculitis, but four years later I take a combination of medications that, the majority of the time, keep me relatively stable. Without my diagnosis, I would have continued to require strong analgesics and my quality of life would have been severely impaired.

Medical professionals are familiar with the phrase “when you hear hoof-beats, think of horses not zebras,” a roundabout way of saying that a common diagnosis is far more likely than a rare diagnosis. This is, for the most part, true, but it is important for doctors to remember that there are zebras out there too.

With 1 in 17 people collectively suffering from rare conditions, these diseases are not as rare as one might suppose.

Whilst it is unrealistic to expect every doctor to have detailed knowledge of every rare disease, greater awareness of rare conditions  generally amongst the medical community is needed, alongside more effective referral systems to specialist services.

Facilitating accurate and timely diagnoses amongst rare disease patients is the first step to improving the care of this frequently neglected group.

Medicine beyond the textbook: Receiving a rare diagnosis

by Guest Contributer time to read: 3 min