I have Multiple Endocrine Neoplasia type 2A. It's a rare disease that causes medullary thyroid cancer. About 1 in 40000 people have this disease so unless I go to the same doctor family members go to it's safe to assume that they haven't dealt with it at all before me. Even if they are aware of it or have dealt with it I assume they don't keep upto date with it. Last Doctor I went to asked me questions about it.
Sometimes parathyroid issues and a 50 percent chance of pheochromacytomas which are adrenal gland tumors that produce too much adrenal hormones. The Pheos are something like a few in a million people will have. It took my mom years to actually get diagnosed with one when she finally got the right endocrinologist who connected the dots. Those years she was treated for anxiety and all sorts of other things and told it was in her head when the reality is that it was the adrenal hormones. My mutation causes me to have a 50% chance of developing at least one of them. It's hereditary so I was born with the genetic mutation. There are only a handful of doctors that are experts in this disease and I'm not able to go to any of them. As a matter of fact I give my first doctor that ordered the tests props for saying he's never heard of it and bringing his big medical book into the room with me and reading it out loud. Then saying we need to see if we can find an Endocrinologist that has dealt with it.
Really the point of this is not to explain the disease but maybe help at least one person understand that with rare diseases you can't count on doctors to know everything. They most likely are overworked and don't have the time to do a lot of homework on something uncommon unless it's something they're interested in studying. Even if they did learn about rare things in medical school they don't see it enough to remember it and surely they're trained to look for the likely common causes of problems, not the rare ones that they may never see in practice. Surely they don't really have the time to keep up with the latest information unless that's what they're most interested in.
Thankfully these days with the internet you can do your own research and find your own information. There are some good sources and at least in my case an excellent support group on facebook. I don't really post much but I do keep an eye on it. Unlike 30 years ago you have the opportunity to do your own homework without even having to leave the house. It's your body so it's up to you to do your best to understand your conditions and what you can do best for yourself. Sure it can be unpleasant to face reality but you can't just bury your head in the sand and hide from your circumstances forever. It is what it is and won't be changing so you may as well just accept reality and make the best of it.
I am sorry if this seems harsh but my hope is that it might inspire at least one person to come out of their hole and be their own advocate instead of counting on others. Why count on others if you can't count on yourself. Do I wish I was normal and didn't have to deal with this? Sure I do but that's not gonna happen. The same with my vision, do I wish it could be 20/20? Absolutely but that'll never happen either. You only get one life so make the best you can of it.Home