A Beginners Guide to Rare Disease

1 in 10 people suffer from a rare disease, but when I talk about writing for Patient Worthy, it’s usually the first time people have had a conversation or really thought about what a rare disease is. For the 10% of your friends, family, and classmates that this applies to, it’s probably hard to forget. It is likely a shadow coloring many dimensions of life. Rare diseases means giving away your tickets to John Mulaney for doctors appointments, symptom flair ups just when you’re stressed over an exam, and telling people you’re sick again and again and them expecting you to just get over it already. Meanwhile, you have to accept those ‘rest’ days (that left you exhausted) will be on your calendar chronically.

Life with a rare disease can mean a wide variety of experiences. There are patients who can be triggered into weeks of sleeping, with the few hours awake described like a hallucinogenic trip. Others have over-flexible joints, causing joint pain and frequent sprains and injuries. Others cannot walk or talk, or will progressively lose their body functions. Many of these diseases are very violent. Half of rare disease patients are children. When every day something hurts, it doesn’t eventually stop hurting. It just keeps hurting, everyday. You become accustomed to it, but not numb.
95% of rare diseases have no approved treatment options. Rare disease communities struggle to gather funding for the expensive process of research and drug creation. Small patient groups are simply not profitable for pharmaceutical developers. Some rare diseases have just a few patients scattered across the world. Sometimes it’s just you. You can’t do clinical trials for a patient sample size of one. Before a disease can be diagnosed or researched, it must be clearly defined. It’s hard to diagnose a rare disease because there’s around 7,000 unique diseases, so your doctor has likely never seen yours before. Getting to the bottom of it means years of chasing down every relevant specialist.
Doctors appointments become your hobby when your free time is spent lugging your oxygen tank 10 hours up the coast to more equipped hospitals. Without proper diagnosis, doctors often can’t locate the patients to carry out research either. The phone is off the hook, and there’s not always someone on the other end. There are no specialists on an ultra rare disease that only you have. Many rare disease patients live in the grey world of the undiagnosed, never able to concisely express the ailments they feel rattling away inside. Many rare disease patients have their symptoms dismissed, triggering anxiety resulting from unexplained, impaired health.
The age of information and technology has revolutionized rare disease treatment. Networks are drawing lines between cases across the world to create one dialogue about the disease, the first step to research. There’s whole genome sequencing that’s identified mutations behind ALS, Rett syndrome, Fabry disease, and more. Gene therapies hold potential for treating many more diseases. AI is sifting through comprehensive databases with algorithms to repurpose approved drugs. In some cases, there are cures. For a long time, this was hopeless. It’s not anymore.
Our appearance isn’t always expressing our health situation. People around you may struggle with invisible illnesses that not even their long list of doctors can explain. The guy looking at cat memes next to you on the subway this morning may have been using it to distract himself from the news that over the next few years, his ALS will progressively take away his ability to move, walk, and breathe. That’s the reality of many of these stories. For most patients, there is no prescription post-diagnosis. A good diet, meditation, and positive thinking will not cut it. The disease will run its course.
We can’t feel the characteristic muscle weakness that an ALS patient would when he got up at 26th Street, so it’s easy to never be aware that it happened. I’ve written this to make you aware that you most certainly passed someone with a rare condition this week and that is not an easy hand to be dealt.  Even if someone is does not look sick at first glance, we can be conscientious of the invisible weight so many people carry.

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