Feeling Isolated with Rare Conditions

The new one is congenital Long QT Syndrome type 11, which is already exceedingly rare by itself, but the cause is a novel genetic mutation. The mutation is a 7q.21-22 heterologous mutation with a Graham's score of 145 (for those of you listening at home, a score of 150+ indicates incompatibility with life). My AKAP-9 gene doesn't work right so I can't produce enough of a protein called yotiao, a novel protein which is present moderately in the brain and abundantly in the pancreas and the skeletal muscle, with a particularly strong concentration in the neuromuscular junction in skeletal muscle. so I have a heart condition that's never had this cause before, and a neuromuscular disease that's so new it doesn't even have a name, caused by the same mutation. it's super surreal to think about

I also looked at your profile and I guess it’s just having a whole life in medicine (literally from when I was born) but I do actually know what all of it is. Although I am curious as to which one(s) are new to medical history. I’m actually always curious to learn as I’m in school for medicine. While I can’t relate 100% because no one can as we all handle things in our own way and conditions and symptoms all effect us differently, I do understand the fear of getting something that they don’t know how to treat or not having a doctor that knows what to do even with the smallest thing. I finally found a PCP that not only can manage my regular check ups but also my epilepsy, immune system disorder, insomnia, asthma, etc. I do have specialists when I need them but he has degrees in all of it and he works with specialists in his office so he can still treat me. I am also very sorry that your bigger fear came true. We are all here for you

I looked at you profile and you definitely have some things I’ve never heard before. Unfortunately I don’t really think what your going through is abnormal though. There are so many people in the world with both diseases and symptoms that are very unique to them or at least misunderstood by doctors. Even individuals with complications that may be identified as more common struggle since doctors only know so much about the disease and can’t provide much information. It’s unfortunate that you have to live through the one thing you really did not want too and I personally can’t provide any advice to such a thing, but I suppose knowing that despite having your own story you are not alone. There are others who do feel the same way.