Thursday, July 14, 2016

One in a Billion

Earlier this spring, we were interviewed by the Milwaukee Journal Sentinel about our experience with exome sequencing to obtain Teddy's diagnosis. One of the first recorded instances of using exome sequencing to diagnose and treat a person involved a child treated at Children's Hospital in Milwaukee. The reporters who won a Pulitzer Prize for their series on that child released a book this spring One in a Billion that details the amazing story of a genetics team that pushed it's goal for exome sequencing a patient for the purpose of medicine up by 5 years to save the life of this little boy named Nic Volker.

The story that changed our lives ... before we knew it.

After reading the book, Dave connected to Nic's mother via Facebook and told her that our family owes her family a debt of gratitude. After reading the book, I completely agree.

This family paved the way for the testing that gave us Teddy's diagnosis, not only in the world, but at the same hospital where Teddy was referred. One of the neurologists who treated Nic is the same neurologist who referred Teddy for genetic testing. I'm sure all doctors know that genetic testing is now an option, but I wonder if he wasn't quicker to refer because of having been involved peripherally with the care of the first child sequenced.

The genetic counselor who met with the Volker family is the same one who spent hours explaining to me exome sequencing, the risks and the potential rewards. The conversations we had mirrored those she had with the Volker family. This genetics team set the standard of what information must be released with families and what families can choose to know, which can be a remarkably complicated topic. (There were 6 categories of information, some of which would automatically be released to us and most of which was our decision ahead of time what we wanted to know.)

Although the Voker family endured far more medical challenges than I ever hope to encounter, I connected immediately with this story because in many ways it mirrors ours. A family searches for answers, unable to find a diagnosis through traditional methods. This family pioneered the technology that gave us a name to Teddy's syndrome, as we called it before we knew it as Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1.

I know the future of genetic testing and diagnostics is rapidly advancing. It amazes me me think that the process that took from early summer until November 13 for Teddy can now be done in less than 2 days. (I think that although Children's Hospital was a pioneer in exome sequencing, they're not necessarily the leader now with the best technology. Heck, nobody expected a group of people in Wisconsin to pioneer this ... Wisconsin isn't exactly the world-renowned for much aside from cheese, Green Bay Packers and beer.)

If you're looking for a deeper understanding of how Teddy was diagnosed and the marvels of modern medicine, I highly recommend One in a Billion.

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