One big problem with the rare diseases is that there may not be any science on a given subject. By that I mean not merely that nobody may have studied it, but that papers are quite narrow, so there may only be published research on two or three possible therapies out of several that may be promising. Yet you must make decisions relevant to your disease and life in general; maybe diet changes, maybe exercise changes, etc. If you can't have science, anecdotal evidence and personal conversations may be all you have. I would be cautious and skeptical, but on the other hand, you may have nothing else to turn to.
I love science, but no one can avoid having to function beyond the light it casts, the moreso for those with rare diseases.
I've got Celiac; whether it meets the fewer-than-200,000-in-the-US criterion depends on who you ask, but it's certainly less well covered by science than I'd like. Yes, there's a relatively easy treatment for me: Don't eat gluten. But I also am having children, and the science on what's best to do for them is very unsettled. There's hints of the importance of breast feeding, but, suppose my kid has all the genes and is breast fed and ends up with the condition masked by it, but still present. Is that possible? Is it better or worse than the obvious manifestation I experienced? Should I just cut them off from gluten entirely preventatively, or might that make it much worse if they ever accidentally get some anyhow, which is inevitable? Nobody knows, the available science only provides somewhat contradictory hints, yet my wife and I have to decide something.
That's true. I have run into the same thing. At times I get a little frustrated by all the research going on for other diseases. For example cancer is a multi billion dollar business. Where I go for treatments I almost feel like a second class patient. The cancer patients have access to all of these programs and support. Those of us with the rare diseases are often overlooked.
Still we need to realize that advances in these other diseases can still our diseases. For example, advances in stem cell therapies for other autoimmune diseases could help people like you who suffer from celiac disease. I have found that even when there is no specific information about your disease it is still possible to connect many of the dots. In my case it helps to have a wife who has multiple degrees in chemistry and biology. Combine that with my technical ability and we are a serious researching team. At times it is hard to sift through all of the information. The one thing I have really learned is that you have to take control of your disease. Sadly our doctors are not going to look out for us. It is our job to make sure we get the care we need and deserve.
I love science, but no one can avoid having to function beyond the light it casts, the moreso for those with rare diseases.
I've got Celiac; whether it meets the fewer-than-200,000-in-the-US criterion depends on who you ask, but it's certainly less well covered by science than I'd like. Yes, there's a relatively easy treatment for me: Don't eat gluten. But I also am having children, and the science on what's best to do for them is very unsettled. There's hints of the importance of breast feeding, but, suppose my kid has all the genes and is breast fed and ends up with the condition masked by it, but still present. Is that possible? Is it better or worse than the obvious manifestation I experienced? Should I just cut them off from gluten entirely preventatively, or might that make it much worse if they ever accidentally get some anyhow, which is inevitable? Nobody knows, the available science only provides somewhat contradictory hints, yet my wife and I have to decide something.