13 ‘Rare Disease Truths’ That Will Make You Think

The hashtag and conversation was kicked off by Neena Nizar. Here are 13 of the many powerful truths shared that will make you think and expand your understanding of the vast and varied rare disease community.

1. Diagnosis is a privilege

Diagnosis is a privilege. The average time to a #RareDisease diagnosis is 8 years. I waited 11 for mine. Undiagnosed and self-diagnosed people are a valuable part of our rare community, and we should treat them as such.#RareDiseaseTruth day 13

— Alea Ricklefs (@AleaRicklefs) February 12, 2021

2. Being a support to families is bittersweet

When a family reaches out 2 @Hsan1eSociety for the 1st time cause they just found out someone they love has HSAN1E. It's always bitter sweet. On 1 hand I'm happy we have provided a place for them, on the other it kills knowing HSAN1E is destroying another family #RareDiseaseTruth

— Rachelle Dixon (@RachelleM_Dixon) February 6, 2021

3. You’re an expert, like it or not

When I go to a new doctor or to the ER and have to explain my #RareDisease since they’ve never met “an actual patient”, I try to view it as a positive. I’m educating and spreading awareness, right? But sometimes it still feels like a kick in the gut.#RareDiseaseTruth

— Sabina Kineen (@sabkin12) February 6, 2021

4. Working for treatment that may not come in time

#RareDiseaseTruth we work tirelessly with the knowledge that treatment may not come in time for our own kiddos, but it may be what decides the future of others.

A really hard truth for patients/parents driving new treatments.#StillHeartbroken

— Neena Nizar (@NeenaNizar) February 15, 2021

5. The words you say matter, and ‘be patient’ is hard to hear

#RareDiseaseTruth There is a sense of urgency in dealing with a rare disease. We know that working towards a treatment/cure takes time but “Be patient” can be one of the most frustrating things to hear. It’s so hard to be patient when rare disease isn’t so rare!

— Amy Casey (@hygienie1) February 13, 2021

6. For some, the science just isn’t there. Yet.

My #RareDisease was diagnosed clinically. Genetic test shows variants of uncertain significance. That doesn’t mean there’s not a real why behind my issues. The science just isn’t there. Yet. We need more research. Everyday realities are known, significant, real. #RareDiseaseTruth

— Adam Johnson - DadVocate (@RareDiseaseDad) February 10, 2021

7. ‘The Folder’ or ‘The Binder’ is something all rare parents know about

Having to create a (medical) folder with all the info on your child's #RareDisease, for all the doctors visits, because the doctors vary and the info you need to give them is more than you can remember :(

We need a multi-disciplinary team for our kids!!#RareDiseaseTruth

— christina (@cmutena) February 14, 2021

8. Sharing hard truths with family

The hardest part of deciding not to have children was telling my parents. Constantly being told how they “can’t wait to have grandchildren” —that responsibility weighed heavy on me. I made up my mind a while ago, but to my surprise, they were supportive of me.#RareDiseaseTruth

— Olivia Viola (@theoliviaviola) February 16, 2021

9. Nothing should be done for the patient without the patient

Those looking to help #RareDisease patients must include patients & caregivers throughout the process. Nothing should be done for the patient without the patient. Working on a condition or treating a patient isn’t the same as living with it 24/7. #RareDiseaseTruth

— Khrystal K. Davis, JD (@KhrystalKDavis) February 8, 2021

10. The best days of my life have come after my diagnosis

Most of the best days of my life have come after my diagnosis because I finally understand my body; I can work with my limitations and know that they are not my fault. Imagine what could have been...that part is harder. #RareDiseaseTruth

— Andra Stratton (@livinlavidalopo) February 11, 2021

11. Embracing the future and the unknown

#RareDiseaseTruth
My disease has brought so much pain, sorrow & loss

But it's also brought unimaginable kindness, joy & hope

How?
This #RareDisease community

Without it I'd B stuck in past, searching 4 a way back 2 what was

Instead I embrace the future,the unknown. Good & Bad

— Marni Cartelli (@Purrfectly_Rare) February 13, 2021

12. Your life will never be normal again

#RareDiseaseTruth After diagnosis your life will never be normal again. I wouldn’t have chosen this journey, but time and time again I have found beauty in life’s challenges. After watching my child continue to fight, it has shown me strength, resilience, and empathy. #UBA5

— Rachel (@Rachel10302016) February 13, 2021

13. Letting yourself dream for the future

Months ago a “healthy” friend asked me what my dreams are for the future.

The truth is I never planned past college or let myself dream. I didn’t know if I’d live long enough to accomplish anything.#RareDiseaseTruth I’m finally letting myself dream ❤

— Anna Laurent (@lilannalaurent) February 4, 2021

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Thank you to the members of the rare disease community who took to social media to share their rare disease truths.