One doctor diagnosed me with bad luck
The New York Times recently published an interactive feature with photos and audio of rare disease patients telling their stories. These individuals all have different disorders, yet similar themes emerged in their stories. The themes are also consistent with what we’ve learned at Siren in our work with rare disease patients. Below I’ve pulled some key quotes from the interviews, but I recommend listening to them in full. Please note that since many rare disease patients are children, that these insights may also apply to their caregivers, family and friends.
Rare Disease Patients Feel Alone and Isolated
Rare disease patients feel very isolated and, not surprisingly, seek a connection with others like them. As Wayne Brown, who has acromegaly, said: “The most difficult part of dealing with a rare disease is the loneliness… Knowing other people with the disease is the greatest thing a patient with a rare disease can have.”
Rare Disease Patients are the Primary Drivers of Diagnosis and Treatment
At age 40, Cheryl Marshall diagnosed herself with trimethylaminuria after reading an online forum: “There was vindication – it was 30 plus years and finally, finally I knew what the problem was.” Diane Ramirez noted: “I educate doctors on a regular basis. I have a ton of information and if I’m ever going to see a new doctor I just put together a kit.”
Rare Disease Patients Use the Internet to Educate and Support Each Other
Martha Bryce, who has swallowing syncope of which there are only 50 known cases in the U.S., explained: “I just hope my experiences can shed light to somebody else who needs it.” Most people with a rare disorder will never meet another person with the same rare disease. Brown started the website AcromegalyCommunity.org in order to provide emotional support for others with his disease.
Rare Disease Patients Want Pharma Support
“We have medical treatments available now thanks to the research and the technology that I’m so grateful for, but when I first was diagnosed there was no treatment,” said Ramirez about pulmonary arterial hypertension.
These stories highlight many of the issues that rare disease patients face, including the fact that it often takes many years to diagnose a rare disease. “I was misdiagnosed with everything from being lactose intolerance to having leukemia to just having bad luck. One doctor diagnosed me with bad luck,” said 21-year-old Kylynn Welsh. Her correct diagnosis was hereditary angioedema.
Another concern is the cost of rare diseases treatments which can cause patients to hit their health insurance lifetime cap. “Eventually, the insurance I was on had a lifetime maximum so I was without insurance for several years,” noted Mitchell Glassman, who was born with Gaucher disease. “The drug companies had programs available to provide the medication at no cost.” Many people aren’t aware that pharmaceutical companies have support programs to help ensure access to therapy.
Alone We Are Rare, Together We Are Strong
The journey that every rare disease patient takes is unique, but it’s worth noting that there is strength in coming together. The National Organization for Rare Disorders (NORD) is dedicated to helping people with orphan diseases and assisting the organizations that serve them. These powerful stories remind me of NORD’s theme for Rare Disease Day: alone we are rare, together we are strong.
(Image courtesy of D. Sharon Pruitt on Flickr.)