Your article is amazing. I was moved to tears many times reading through this. (My wife is 6 months pregnant right now.) Just wow. Good luck with it all, and the fact that Victoria does not have the same diagnosis is just amazing! I'm glad Duke could help and your story is beautiful and inspiring. I don't know what to say, just, thank you so much for writing this. I will certainly be passing this on to some friends.
When there's scientific interest in the case, will a university charge for exams and tests? What about research clinics?
When does an institution say "from now on, we'll take care of costs"?
Exomic sequencing is so efficient that it will likely replace testing for individual genetic disorders one-by-one in the near future.
In the pilot study at Duke, they diagnosed 6 of the 12 children, each of whom had an ordeal very much like my son.
In the rare disease community, this technique is unparalleled.