When I Have to Convince Doctors to Treat Me Because I'm Rare

Imagine being ill and having to use your precious energy to convince someone to treat you or prescribe you life-saving medicine because so few people in the world are familiar with your condition. It is a process that makes you feel as if you’re falling right through fragile ground, watching it shake and shatter beneath you, regardless of how hard you try to plant feet.

Many rare patients spend more time than they should trying to “figure it all out on our own” because doctors are hesitant of treating the unknown. While this is sometimes understandable, it is extremely taxing on patients, who are often desperate for just basic care.

Unfortunately, little is known about adults living with my disease, SCID-ADA, or how it progresses. It can be a scary world to live in because patients with rare and chronic illnesses usually won’t just get one diagnosis — they get many. To quote my orthopedist, “Wow, you have a lot of shit going on.” Patients like us have to open the door to the inexplicable and unfathomable when it comes to our health.

“What’s going to happen next?”

“Will I become immobile in the next 15 years?”

“Will I be on oxygen in the next 20?”

As troubling as this is, the most heart-wrenching question has been, “Which doctor will be willing to treat me?”   

Here is the raw truth: most doctors are scared of the unknown, to attempt and treat a patient with a disease they have yet to encounter. It took me four years of severe gastrointestinal distress to find a doctor who didn’t blink at the thought of doing a colonoscopy on someone who has multiple rare and chronic illnesses. I chased down doctors and answers on my own. “Let’s hold off on the colonoscopy. You have a very weak immune system. We don’t want you to get an infection.” I told each and every one of them I understood the risks and would gladly go through with all of it to at least rule things out to have peace of mind.

No one listened. They were scared.

In March, as I sat in my infusion chair, it was my very concerned nurse who had been with me for five years who said, “Enough. You need to find better care.” While the rest of my medical team continued to throw their hands up in the air, she took the time to make outside calls and find the best center for those with complicated GI histories. I couldn’t have been more grateful. In April, I finally had the colonoscopy I had begged for on my hands and knees.

But why did it take so long? Is the fate of a rare disease patient up to something as unpredictable as plain old luck?   

My last feat was to convince my new immunologist to please treat me. I was the first one with SCID-ADA she’d ever encountered. She read about it online and became very anxious. “You are going to need a lot of help in life, and I’m not sure I’m the one who can help you.”

I pleaded with her. In fact, on the day of my second visit with her, I strategically asked my husband to come, and put on makeup (something I rarely have the energy for). I attempted to look as healthy as possible. “Please, no one will know how to best treat me. I just need you to be able to work with me when complications arise. I don’t expect you to have answers because no one will.”

If a doctor is willing to take the “risk” to treat a rare patient, the rewards can be numerous. When you choose to care for a rare patient, you get to meet someone who is (and usually has no choice but to be) thoroughly invested in their health and well-being. We often know more about our disease than other doctors. We can help you become an expert. You get to contribute to literature and general knowledge in medicine. Every single bit of information documented about our patient histories is invaluable to the future generations who are born with or develop rare conditions. While the doctor gets to better understand disease progression and become familiar with new drugs and drug development, he or she is reaping the ultimate reward, in my opinion. Should the day come again when a young child and parent enters your office with the same condition, you just might be able to say, “Yes, I can help guide you.”

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Photo by Debashis Biswas, via Unsplash