What It’s Like to Be an Undiagnosed Rare Disease Patient

October 29, 2021

Cheyanne Perry Suarez

I once spent eight months inpatient at the hospital. You would think I would have received answers regarding my health after such a long, arduous hospital stay with trained specialists overseeing my care. Unfortunately, that was far from the case. When I was finally discharged with a feeding tube in my abdomen and a central line on my chest, we were no closer to ending my diagnostic odyssey. I felt like a cheap puzzle from the hospital game room; I’d spend hours working toward its completion, relishing in the increasing anticipation of fitting the last piece, only to realize it was usually missing.

Undiagnosed rare disease patients become their own doctor.

I wouldn’t receive an official diagnosis of compound heterozygous TTC7A deficiency until I had whole exome sequencing almost five years later. Before a physician performed the proper testing, I was diagnosed and misdiagnosed what seemed like a thousand times.

My diagnostic journey is not uncommon. Rare, inherited conditions are not something physicians frequently encounter. A patient is fortunate if the doctor happens to remember any information of the condition from the brief med-school lecture.

Rare disease patients and the parents of rare disease patients often scour the internet for hours desperately seeking answers for their symptoms. They sacrifice their livelihood to travel across the country to see another doctor who tells them they are too complex or who blatantly asks, “How can one person have so many problems?”

On the chance they do meet a helpful specialist, the patient is expected to govern their own care to a scary extent. In the emergency room, I’ve been told, “You are probably more knowledgeable about this than I am.” Later, I was previously directed by a doctor to research how a specific test is performed and where to send the sample. But what happens when the patient doesn’t know what to do?

Rare disease patients seek solace in social media connections.

With chronic illness comes isolation. Healthy friends stop asking to make plans, and families grow tired of dealing with constant medical woes. Nobody understands without experiencing illness firsthand.

Whether diagnosed or undiagnosed, connecting with other rare disease patients via social media was like a breath of fresh air. The internet is a world of accessibility for those with chronic illness. Communities of other patients can be found through hashtags and searches. It allows patients to share experiences and is what encouraged my involvement in patient advocacy.

I met my best friends on platforms such as Instagram, Facebook, and Tumblr. We all have different underlying diagnoses, only sharing comorbidities, but our bond is stronger than ever. I immediately feel less alone when I know I can ask for advice on Facebook support groups or relate to the vlogger who shares their daily life with health challenges on YouTube.

Probably Genetic’s patient-initiated care is crucial to circumvent the common difficulties rare disease patients experience.

As a rare disease patient, it is obvious that what Probably Genetic has to offer patients is invaluable. The average patient encounters at least seven doctors prior to getting diagnosed; however, Probably Genetic’s patient-initiated testing overcomes that barrier. It eliminates a fraction of the suffering patients endure while the traditional medical system views their medical complexities as an inconvenience, and it reduces the typical time required for patients to obtain a diagnosis.

During my diagnostic odyssey, I did not have the option of a service like Probably Genetic. If I had, perhaps my body would not have sustained permanent damage from the years of not having a correct diagnosis and implementing treatment sooner.

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.