A genetic counselor’s explanation of my son’s deadly disease left me questioning the plot of Rumpelstiltskin. I joked that we might be dealing with a curse, but the reality is just as unsettling. My 8-year-old son has ALD, an inherited disorder that causes brain damage and death. Our situation bears uncanny resemblance to the story.
I asked if my mutation – which started in infancy – was inherited or caused by chance, but the geneticist said it’s a “typo” gene error. It’s unlikely we can pinpoint a single cause. The doctors warn of rare complications during his bone marrow transplant, including death. I’m told there’s a 10% chance of mortality.
As we prepare for my son’s surgery, I worry about the odds. While there’s a small chance he’ll be okay, the possibility of him never walking again is devastating. If that happens, I won’t try to defy the statistics. The Earth will take me whole if nature gets its way. My only hope is for a miracle, but even that seems improbable.
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Source: https://www.thedailybeast.com/allison-quinn-a-dumb-typo-may-cost-my-8-year-old-son-aedrik-his-life