Tonight at sunset, it will be 11 years since Hannah passed away in my arms. Our sweet girl would be almost a teen.
Yesterday in the car driving home from a playdate, Mimi asked me if doctors know how to fix what happened to Hannah (surely science would be there she thought). Mutation. “A mutation is a change in the DNA sequence of an organism. Mutations can result from errors in DNA replication during cell division.” One small mistake on our seemingly infinite line of DNA.
I suppose the first step is to be able to identify exactly where the mutation occurred. We have this now from the great genetics work of the SCH Research team that identified the spontaneous mutation that caused Hannah’s disease. But like so many others who have faced the dreaded ‘rare disease’ diagnosis, we didn’t have this during Hannah’s lifetime. The second step would be the ability to edit the gene so that the mutation is no longer an issue. Unfortunately for Hannah and the other kiddos with rare diseases, this isn’t yet a treatment option. But we know, like so many cell biology advancements, it is coming.
At sunset tonight, I’ll think of Hannah (as I do everyday when I see a hummingbird, hear a special song, or see the sun rise or set). I’ll also pray for our extraordinary scientists who are working fast on gene therapies that will one day (soon I hope) help other children and their parents who are living with the uncertainty of a diagnosis that they are helpless to heal.
Sweet Hannah, we love and miss you every single day.
