Research

Today is an important day. It’s my parents’ 52nd anniversary. It’s also the first day that Gracie’s 1:1 from school watched the kids—she is our nanny for the summer. And, it’s the day I got an email from the genetic research group saying they found mutations they believe are responsible for Gracie’s symptoms:

Dear Susan:

Since we sent Grace’s genetic test result in July, 2015 the genetic researchers here have continued to search for a genetic cause for Grace’s symptoms.

I am writing to you now to let you know that we have identified genetic mutations that we believe are likely to be the cause of Grace’s symptoms.

!!!

They found something?! They found something!! Mutations—plural??

I spent the rest of the day shell-shocked. Not happy, although not unhappy either. Confused, anxious, worried… unsure what this news will bring. Unfortunately, I don’t have the results yet; the research facility will only release them to a doctor. There are results for me and Chad, too, relating to the mutations they found for Gracie. The person at the research company offered to send them to our doctors or Gracie’s doctor or both. I went for both; really, Gracie’s doctor is the only one with a vested interest in the whole thing. Also she’s the one who is most likely to share the results with us, instead of filing them away and forgetting about it. I’m not even sure my doctor would call me to tell me they got the fax/email/whatever.

I feel trepidatious about the whole thing. It likely won’t change much about our day-to-day life, but it may change Grace’s prognosis. It may make our worst-case-scenario a reality. Or, maybe not. Hopefully not. How I hope that it will not.

Regardless of the results, this will probably foreclose any opportunities we may have had to have another baby. I desperately want one more child—one more chance to get baby snuggles, see all the firsts, watch the miracle of life unfold. Gracie wants me to have another baby, too, so she can mother it and dress it up and play with it. If we have a lethal genetic combination, though, how could we gamble with another child’s life? It’s a terrible decision.

After so many years of testing and so many unusual results, I had pretty much given up on ever finding an explanation for Gracie’s symptoms. I had started to believe the ophthalmologist’s  tongue-in-cheek diagnosis of “Grace Disease.” I had decided that Grace was pretty much the only one like her. Now, maybe that’s not the case. Maybe she’s not the only one after all. Maybe she has a mutation that has been found in others.

Getting a diagnosis is a hard experience. It seems like it would be great to know what’s going on, but really it is a chance to reopen wounds that have long-since healed, a chance to revisit all the worries and fears of the early years, a chance to have your worst fears confirmed. It is not a relief; it is a heavy feeling to finally know. Even when the diagnosis is not too bad, even when it is something treatable, it is hard to hear it at first. Those are heavy words.

Eventually, the shock will fade and we will get on with our lives. Even with the worst diagnosis possible, we will carry on. And hopefully, it won’t be that bad. After all, we’ve already been through so much and we’ve always made it through—we will make it through this too.

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