Sometimes I am reminded that things could be worse…

This is an amazing story to read if you have five minutes to spare:
DIY DNA: One Father’s Attempt to Hack His Daughter’s Genetic Code

She was born with a rare genetic disorder, and at one point the Rienhoffs feared she might never walk, let alone run and skip. Physical therapy has helped tremendously, but even today Beatrice struggles to climb stairs, and her muscles remain alarmingly frail. Hugh also has good reason to worry about her heart—the disease could dilate the aorta, with fatal results.

Nobody can say for sure what lies ahead for Beatrice, because no one really knows what’s wrong with her. Hugh has taken her to see some of the nation’s finest medical experts in hopes of finding a diagnosis, but the doctors have all been baffled by the girl’s strange array of symptoms. This has left her in a sort of diagnostic purgatory, making her illness all the more fearsome and traumatic.

Families facing this kind of medical uncertainty are often paralyzed by their distress. But rather than give in to his anguish, Hugh Rienhoff made an extraordinary decision: He would dig into Beatrice’s genetic code and find the answer himself. A biotechnology consultant by day, Rienhoff has been an avid student of clinical genetics since he earned his medical degree nearly 30 years ago. Now he has used this expertise to transform his Bay Area home into a makeshift genetics lab. Surrounded by his children’s artwork and bookshelves loaded with his wife’s political literature, Rienhoff set about sequencing a number of Beatrice’s genes, preparing samples using secondhand equipment and turning to public databases to interpret the results.

There is also a video here of a talk given by Dr Rienhoff at Google, but it’s an hour long, so be warned.

It’s probably a good thing that I have a Computing degree, otherwise this could be me. Hopefully, we will have our own answers soon…


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