Gene Therapy

There was a segment on the Sunday Morning Show on CBS this weekend about using gene therapy to treat, or possibly cure, rare genetic disorders. It's absolutely amazing how far modern medicine has come that it's actually possible to remove a person's stem cells, replace the faulty gene and reintroduce the altered stem cells back into the body (via the HIV virus of all things! That part actually makes sense because it spreads throughout the entire body, and they modify the virus to ensure the person is not at risk of AIDS).

It's worth the 9 minutes of your time, so click here to watch it.

Of course, this particular treatment involved traveling to Italy for the clinical trial and returning twice a year for the trial follow-up. And it's absolutely worth it to keep your child safe from the disorder that robbed you of one of your daughters when she was 5 years old. Unfortunately, that clinical trial is no longer accepting new patients, and none are being done in the United States and may not for years to come.

This story makes me wonder if, one day, a similar therapy might be available to remove and replace the PIGN gene in children like Teddy with one that functions normally. Could it happen? Maybe. Could it give these children longer, more fulfilling lives? Maybe. Will it ever happen for Teddy? No, realistically it won't.

But that's OK. The disorder featured in this segment is one of, or similar to, the disorders we were actually warned about before we sequenced Teddy's DNA. We were told we might find out that he has this horrible childhood version of Parkinson's that has no cure and would rob him of every function before taking his life. I think that's part of the reason this story moved me so much, to see parents with fully functioning 2-year-old children lose their children in such a torturous way. Yet, the parents still found ways to move forward, to have a purpose in life. One of the families founded The Calliope Joy Foundation with the sole purpose of helping others with the same disorder that's taking their daughter from them.  What strength and grace!