24 Things People With Rare Diseases Wish Others Understood

Right now an estimated 30 million Americans live with a rare disease. In the U.S., nearly 7,000 diseases are considered rare, and for most, no cure exists and few (if any) effective treatments are available, according to the National Organization of Rare Disorders (NORD).

From the exhaustion of a diagnosis journey to the feeling of being alone, those with rare diagnoses and their families face a lot of unique challenges that may be difficult for others to understand.

The Mighty teamed up with NORD to ask their Facebook community what they wish others understood about their experiences. Here’s what they had to say:

1. “I’d be more than happy to educate you if you ask about [my condition] rather than question its existence.” —Katie DeMore

2. “Most doctors have never heard or seen a patient with the disease.” —Nancy Reeder Martin

3. “Smiling doesn’t mean I’m suddenly healed. It just means I’m choosing to stay as positive through the pain as possible. —Evan Mundine

4. “Do not give advice to people with rare diseases. I know more about my disease than my own doctor does so please think before attempting to give advice.” —Brittney Peebles

5. “People who hear you have a condition should never say, ‘Well at least it’s not cancer.’” —Cheryl Olenczak

6. “They are only ‘rare’ until they happen to you or a loved one.” —Bob Longhorn-Longhorn

7. “Just because what you’re experiencing doesn’t fit into an easily diagnosable box doesn’t mean you should be easily dismissed and overlooked.” —Megan Wirts

8. “Fundraising is a big deal because government funding is scarce or nonexistent.” —Rebecca Brewster

9. “I wish people wouldn’t say , ‘Ahhh, I hope you feel better soon’ like it’s the flu! —Lauri Morris

10. “Nothing about rare diseases is simple — not the diagnosis, not the daily care, not the long term. If you really want to know about my child, it’s not a one sentence answer.” —Elizabeth Grehl Breden

11. “Physicians need to understand that we likely know more about our disease than they do. They need to actually listen to us! Be compassionate and understanding.” —Renee Walchak L’Ecuyer

12. “It feels incredibly isolating to want to help your child and not be able to because even the doctors don’t know what’s wrong. To not have someone who understands because there is nobody like your child. To not be able to have a treatment plan because there is no diagnosis.” —Susie Stretton

13. “People can just be a good friend and listen and be there for you; they don’t have to try to relate by saying they know someone who has the same thing. Hence the word ‘rare.’” —Jill Ritchey

14. “Sometimes you have a name that everyone knows (i.e. epilepsy), but a rare presentation of it (i.e. Lennox Gastaut syndrome) that means you don’t qualify for studies and the meds don’t work. It’s a terribly isolating and frustrating place to be in medically, and the generic name doesn’t give the correct picture to the public.” —Kelly Shaughnessy Morris

15. “‘One in a million’ means it’s possible. And those ‘ones’ need to count.” —Hailey Remigio

16. “You may never really get a full diagnosis and/or prognosis.” —Jessica Taylor

17. “I wish people who can’t see your illness wouldn’t judge.” —Dawn Dawneedoo Frascati

18. “It can’t be fixed by a simple visit to the doctor. There isn’t a drug or something that can be given to cure it. It’s always there and without research it always will be.” —Sylvia Marsden

19. “To be able to talk to and meet fellow patients and have a conversation about our disorder without having to try to explain what it is is extremely valuable.” —Neil Smith

20. “Some of your coworkers, neighbors and friends who appear to be living ‘normal’ productive lives are also living with rare disorders. I bet most people know (often without realizing it) at least one person who lives with a rare disorder.” —Lisa McClellan Lucius

21. “We enjoy the confused look on [your] faces when we tell [you] the name of our illness/es! ‘Neuromye-what?!’ —Helen Lear

22. “Just because a doctor/pediatrician/ER staff hasn’t heard of a disorder doesn’t mean it doesn’t exist.” —Brittany Lazechko Alley

23. “Our caregivers go through so many sacrifices caring for us! It’s a thankless job and I know I don’t always say ‘thank you,’ but I would not be where I am without them! —Mary Lou Briggs

24. “You will do and learn things you never thought possible. ‘Hope’ means so much more since sometimes that is all you have.” —Nicole Vallier

*Some responses have been edited and shortened for brevity.

For more information on rare diseases, be sure to visit NORD’s website and Facebook page.