LinseighJan 12, 2023

As a patient who works in #raredisease, it’s interesting to see how the #medical community loves to hear from me when I talk about surviving fatal illness & exceeding their very low expectations, but wants me to keep quiet when I point out the fact that patients like me still have a low quality of life due to long term complications.

This is sad, bc they’re the ones who can offer us followup care, address research gaps, etc. But we can’t have one without the other.

#disability #chronicillness

Show threadSteve GisselbrechtFeb 22, 2023

@linseigh
I'm so sorry.

I'm in the research community, so kind of medical-adjacent, and we're working right now on a proposal for a rare disease-focused RFA. This is just to say that there *is* energy (and money!) out there to do research into how to improve things for you, but it's hard.

Show threadLinseigh
@stevegis_ssg thank you for this! I appreciate and completely understand that so much of it is due to limited resources & bandwidth — it was when I started working in #rare professionally that I got a more realistic picture. What broke my heart was how often I was told our challenges were irrelevant, not urgent enough, not anyone’s scientific interest, etc 😭
Mar 20, 2023 at 6:06pmWeb
Show threadLinseighMar 20, 2023
@stevegis_ssg I mobilized research & resource initiatives, and ppl tried to shut my efforts down for emotional reasons, out of spite, etc. When a disease claims lives & leaves survivors with a devastating QoL, it gets a lot stickier. But also, during my career in the field, I was the only patient in the world who had this disease and was in that space, and people found it easy to exploit me, treat me like I was incompetent, etc.
Show threadSteve GisselbrechtMar 20, 2023

@linseigh
I think people see research energy and money as a resource to compete for. And I get it, but it's shitty. That's why I like the NIH's current approach, which is to treat "rare diseases" as a common field of focus; even if one only affects hundreds of people, there are hundreds of these populations of survivors facing common elements to their challenges.

Our proposal aims to address 77 different genes, in hopes at least a few will give actionable information!

Show threadLinseighMar 20, 2023
@stevegis_ssg Thank you for bringing us hope🙏🏽🙏🏽