Remarkably, the cost of the exomic sequencing is a small fraction of what we spent on individual genetic tests over three years.

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.

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.

Thanks for sharing!

Becoming a parent is an awesome experience--one I wouldn't trade for anything.

I can still remember time freezing the moment each of my kids was born.

I wish you, your wife and your little one the best.

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"?

Hopefully, sharing this information and your story will lead to more informed doctors recommending this technique.

Thank you for an inspiring story and your exemplary perseverance.