Where is the line drawn between medical research and healthcare for your son? In other words, what on earth does this cost?
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.
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.
Thank you for an inspiring story and your exemplary perseverance.