Advice for Adults Seeking a Rare Disease Diagnosis

The journey to receiving a rare disease diagnosis later in life, also known as a late-onset diagnosis, can be a bumpy one (and that’s putting it nicely). To help you navigate this road, we asked our rare community to share their advice for others who are similarly searching for answers. 

Here’s some advice that’s helped our community finally receive the correct diagnosis:

1. Advocate for yourself — and don’t hesitate to ask for help. 

You are the expert on you. No matter where you are on your journey, your health is valid and real, and your voice is a powerful tool for communicating your experiences. Learning how to share your symptoms and their impact on your day-to-day life can ensure that you actively participate in your health care team. And if you don’t have the energy to advocate for yourself — patient burnout is real! — or feel unheard by a health care professional, ask a loved one to help advocate on your behalf. 

“You know your body better than anyone. If something doesn’t feel right, keep pushing. I am 5.5 years into my journey, and only now am I receiving a diagnosis of a rare genetic neurological disease. I have been told it was anxiety and depression because I’d lost my mum and business. I’ve been told it was all in my head. It took a huge worsening of symptoms to finally be listened to and told it could be physical, and it looked like I could have a brain tumor (thankfully, I didn’t). It was then possible MS, then it was sarcoidosis. My story went on like this for years. I’ve been through two neurologists, one rheumatologist, and three professors. It wasn’t until the last one when he said, ‘Let’s do a whole genome sequence test.’ Keep advocating for yourself, and when you feel like giving up, get a loved one to do it for you.” — @lukescudder 

“I did my own research and presented it to a doctor who would listen.” — Cheryl 

2. Ask questions. 

If navigating a rare disease diagnosis feels like stumbling through unfamiliar territory, you’re not alone. That’s why it’s important to ask any and all questions — there’s no such thing as a “silly” question when it comes to your health! Ask your doctors about the signs and symptoms you are experiencing or the research you’ve done about possible health conditions or tests. Knowledge is power; the more informed you are, the more empowered you’ll feel to make informed decisions about your care. And if you aren’t getting the answers you need, it’s more than OK to seek a second (or third, or fourth) opinion.

“Don’t blame your health care team for not having a diagnosis… yet. Keep providing information and asking questions.” — @sheilamay1200 

“I’d suggest asking your doctor, ‘Could this be a rare disease?’ It took us two years to get my daughter’s diagnosis and many, many visits with doctors. I wish we would have started looking at the possibility of a rare disease sooner and asked doctors what that discovery path looked like.” — @mike 

“Have a record of symptoms and history to clearly present to your medical team. And ask them what their thoughts are on any suspected rare disease you may have researched that presents similar/exact symptoms you are experiencing. I think these things, plus mentioning how I want to work with them to find answers because these symptoms are causing disruptions to my quality of life and functional abilities, resulted in getting referred to a specialist fairly quickly.”
— @joanna_am_banana 

3. And finally, don’t give up! 

Searching for answers can be isolating and exhausting. But our Mighty community urges you not to give up. 

“My journey to being diagnosed with Lyme disease was a year-long series of getting the wrong diagnosis, hospitalizations, multiple PCPs, and therapists, and thinking I was dying, all before going to a walk-in clinic where the first thing out of the NP’s mouth was, ‘Have you been tested for Lyme disease?’” — Krystal 

“Don’t give up! I am finding medical science is starting to catch up with my illnesses. What was once labeled ‘in my head’ is now widely diagnosed. So never give up!” — @amybarber1 

If you’re feeling lost or overwhelmed, know you are not alone. Try to lean on your support system, join an encouraging community (like our Living with Rare Disease group), and celebrate the small wins and progress you make along the way. You got this! 

About Catalyst Pharmaceuticals, Inc. 

Catalyst Pharmaceuticals serves the Lambert-Eaton myasthenic syndrome (LEMS) community. LEMS is a rare disease that has a late onset and is often misdiagnosed. While the main symptom of LEMS is muscle weakness, especially in the legs and hips, LEMS can also weaken muscles in other areas of the body and affect part of the nervous system, causing symptoms throughout the body. Visit the Many Faces of LEMS page at www.LEMSaware.com for resources — including a symptom quiz! — and to learn more about LEMS.