What It Feels Like to Not Have Access to Rare Disease Experts

November 16, 2021

Cheyanne Perry Suarez

Photo by RODNAE Productions from Pexels

For years I was a patient with a mystery disease. Doctors adored me at first. After all, I was their chance for success and for them to feel highly esteemed amongst their colleagues. That is... until they could not solve the enigma in front of them. Ultimately, they grew resentful of my rarity.

The frustration in their eyes was evident when they began saving my case for last during morning rounds at the hospital. I waited most of the day for a treatment plan, only for them to finally show up with nothing but vague statements such as, “Keep doing what you’re doing” or sarcastic questions like, “What are we going to do with you?” I can’t say I blamed them. I was a living reminder of what they didn’t know, so they stopped trying.

On the day I received the correct diagnosis, I sobbed with relief. I assumed having a name for my symptoms would prevent physicians from giving up on me. In many ways, being a diagnosed chronic illness patient is easier than being an undiagnosed patient; however, a rare disease diagnosis doesn't change the fundamental problems with healthcare.

Rare conditions are infrequently recognized because the typical physician does not encounter them often enough to gain the expertise. Unless I travel hundreds of miles across the country for appointments with renowned specialists, I continue to come across just as many unknowing doctors as I did before my diagnosis. So, finally having a name for my disease which impacts less than 100 people worldwide has not significantly altered my care because the unknowns are equally as great. My illness remains something doctors prefer to avoid, and I am pawned off on another hospital at first chance.

The fact that my life with a rare disease is too difficult a problem for doctors to solve within the allotted time constraints, and that my complexities detract from passion for medicine feels like the worst form of rejection. It’s like the kid picked last for a team at recess or the worst of breakups. I still find myself sitting in a doctor’s office devoid of feeling over a physician who fails to set aside their pride to help their patients.

Outsiders seldom perceive the struggles patients endure for proper care, but experiences like my own are a repeated occurrence. The millions of patients sharing their stories online confirm that patients do not consistently receive the quality of care they deserve because the specialists willing to dedicate the time to take on complicated cases are few and far between. 

This is why finding patients early in their diagnostic journey via social media and telemedicine technology is so important, especially for researching physicians, biotechnology companies, and advocacy groups. With additional awareness and the prospect of successful treatments thanks to the work of companies like Ultragenyx, Zogenix, Alector, and many more, there is hope for progress in the lives of rare disease patients. 

Cheyanne is the patient community manager at Probably Genetic. She uses her own experience of living with a rare genetic condition in her patient advocacy work. After graduating with her degree in psychology, she is especially interested in the biological processes that connect physical illness and mental health.

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