It is very likely that this disease is extremely rare, even if you account for those who aren’t registered on the forum or in touch with the PFSF. That is not a reason to despair and does not mean this problem cannot be solved.
Firstly, 15,000 people is still a LOT of manpower if we all work together. The problem has been historically that we don’t, and there are dozens of small groups pulling in multiple directions. We hope that Baylor’s results and further upcoming research will start to turn that tide.
Secondly, with the proliferation of online “healthcare” companies like HIMs, Keeps, etc, sadly the patient population will continue to grow.
Finally, comparing our disease to one like ALS or MS, like some have done in the past, is like comparing apples and oranges. We can trace back the beginning of our disease to a very specific trigger point, which means once the predisposition is known, it’s a lot easier to test on animal models to understand further. There are other benefits to having a specific trigger point also.
Even with 15,000 patients, that’s still 15,000 potential small donors, plus countless family and friends that are potential donors. This community has already spent millions on unscalable/unrepeatable treatments, such as HRT and countless other protocols. Once we start acting as a cohesive community of rare disease patients, rather than what we’re doing now, there’s no reason we can’t raise enough funding within this community and its networks to figure out the underlying predisposition and mechanism of action. Recognised rare diseases, particularly one that is as interesting as ours, are also eligible for significant grant funding. And fingers crossed that one day, researchers will actually approach us.
It really doesn’t help to think too much about our size - what’s done is done. We just need to do the work to understand what’s going on and the rest will fall into place.
damaged our souls and destroyed so many hopeful young and still hedonic old lives.