My friend sent me a link to a Ted Med speech where Richard Resnick, the speaker uses our family as an example of what's going on in the genomic field of medicine.  We had no idea that he did this but are thrilled for the way he used it in his presentation.  It's quite interesting and informative.  My brother just put it up on our site under the video section.  Click "Video" and check it out!
Things are moving so fast in the field of genomics and, yet, for people who are dying from undiagnosed or misdiagnosed disorders, it's moving so slowly. We continue to be so thankful for the advancements being made and are pushing forward to open more doors for further advancement.