This is a really heartening story both because it's objectively amazing and, to me, for personal reasons. My wife suffers from an unknown congenital myopathy. She, and by extension I, are actually VERY fortunate. It's a very mild expression of that class of disease, so it's not a death sentence, but it's a life sentence. She can walk unaided and climb stairs (slowly, with effort), but she'll never run, among other things. She has very weak muscles in her extremities, a very high resting heartrate, breathing problems, and she basically can't gain muscle mass.

She has been working with doctors on both coasts to try to nail down a diagnosis, so that we can think about having children (we need to know what, exactly, to screen for). So far, we have had many promising diagnoses, all of which have been negative. We might be looking at a new disease, and the information in the article about genetic sequencing for new diseases lines up with what her doctor at the NIH has been working on (they just recently collected genetic material from her close relatives). Thank you for sharing a success story on the new disease front, and thank you for your work to turn your personal tragedy into a force for good in the world. You're the best kind of people.