Genetics 4 min read

Advice from the Rare Disease Community

By Katherine Lagomarsino featured image Illustrations by Maxwell Holyoke-Hirsch

Today is World Rare Disease Day. Launched in 2008 by Eurordis, a patient-driven alliance representing 738 rare disease patient organizations across the globe, World Rare Disease Day occurs annually on the last day of February. Its goal is to bring attention to the many issues that impact patients with rare diseases, which affect 1 in 10 Americans, or 30 million people across U.S., and 350 million people worldwide. Among those issues include a lack of a unified voice as a community, and a lack of approved drug treatments. Currently, 95 percent of all rare diseases are without a Food and Drug Administration-approved therapy.

Rare-disease patients also often face medical diagnostic odysseys — going from one doctor to the next, and from one test to the next — without ever receiving an official diagnosis. Without a diagnosis, determining the most effective treatment options can be difficult.

In honor of this day, Global Genes, a rare disease patient advocacy organization, posed this question to its Facebook community.

“What advice would you give others who have yet to receive a proper diagnosis for their condition?”

Below is a selection of their inspiring responses:

“Never give up, as tired as you may get. I was nearly diagnosed at 14, but then officially diagnosed [at age] 47, over 33 years later, because of a young locum doctor who saw me as a whole person, not just a set of symptoms. She correctly guessed a lysosomal disease, albeit the wrong one, but set the right wheels in motion to diagnosis and even treatment! Sometimes a fresh perspective can make all the difference. My disease is ultra rare, but I’ve found a great community online, and now I feel in control.” — Julie Garfield

“Keep in the front of your mind that this is the beginning of a road to get answers. I know how we want them right away. But these are all steps that are teaching you valuable lessons and skills. Continue a log of episodes so [that] in between appointments you have all that information to help piece the puzzle together. You can do a simple, small notebook that you can keep in a diaper bag and keep notes in date order. What episodes look like, maybe what your child is doing just before and after, how long it lasts — any detail is great. Seek genetic testing, but keep in mind that sometimes that’s a slow process as well. You are putting a team together. Keep looking for all the pieces that fit and don’t be afraid of change.” — Kathy Brown

“Seek and find … your diagnosis, your daily life that works, the answers you need and joy in the every day. My mom started looking for answers for me at age 9. I wasn’t properly diagnosed until I was 40. I heard many misdiagnoses, including some very hurtful ones, and I’m a medical professional who thought I could navigate the system. Be true to yourself, maintain your own records, use the internet wisely, build your own tribe, and be graceful to yourself. Know yourself and listen.” — Kristy Wrobel Gibson

“Video or photograph everything that seems abnormal to you if you can. That was the only way I got a diagnosis for my son, as they didn’t believe he had issues from the 2 minutes they spent with him in the doctor’s office.” — Natasha Roys

“Seek another opinion, and another, and another … don’t give up. Talk to people in the rare disease community and see if anyone has any type of connection that may help you, we are all connected in this rare disease space and rare disease advocates are the most amazing, unstoppable people I know!” — Julie Garabedian Cunningham

“We are going on six years of not knowing a diagnosis. Genetics knows it’s something but no test has shown anything. Don’t give up and don’t lose faith because genetic testing is improving every day. More information comes out daily on different genes. Just hang in there.” — Ashley Barnett Stone

“For parents of young children, find and connect to state and community resources of early intervention as soon as possible. I feel that this supported my son’s development even before we knew the cause of his delays.” — Leah McKenzie Lewis

“I had a physician tell me that I know my body better than anyone, so, if I see a specialist or someone that doesn’t seem to be listening, I should move on until someone hears me. Best advice EVER!!!” — Julie Sullinger