One year ago tomorrow she passed away. I have been thinking so much about the fact that she would be just over two years old right now…but it feels like it has been a decade since I was pregnant with her. At the same time, the year has flown by – I can’t believe it has been a year.
What seems an amazing, perhaps ironic twist – we just learned that the genetics team at Seattle Children’s Research Institute has been able to diagnose the gene mutation that caused Hannah’s sickness.
For a year, the team has been studying her gene sequence (and ours as well) to see if we might get an answer. We have it. We meet with Bill Dobyns, the researcher that has been leading the effort next week to get the details, but it appears Hannah had a “spontaneous mutation” of gene ATP1A3. They know that it was a spontaneous mutation rather than a passed on condition because neither Greg nor I have the mutation. Thankfully that means that Wes does not have it either – somehow this gene mutated in Hannah. I’ll share more in the coming weeks as we learn, but attached is a link to an article that helps lay things out in the simplest terms I could find:
What is very unusual for us is that the onset so early in Hannah’s life is not a common trait of this genetic mutation, nor is the severity of the condition – in fact from what we understand, the way that this mutation attacked Hannah has only been seen in mice and not documented in humans. There are not currently any therapies to treat this disease, but each case that is diagnosed helps to deepen the understanding and leads to new research. Perhaps a family that has a child with similar symptoms to Hannah’s can test for this gene mutation and have an answer to what is happening to their child.
I have many times referred to Emily Rapp, the mother of Ronan, a little guy with Tay-Sachs disease (she is the author of the “Dragon Mom” article). After his diagnosis at 9-months-old, Emily wrote a blog about her experiences knowing that her son would not survive. She has turned her blog into a wonderful memoir, “The Still Point of the Turning World”. I have the book but am not able yet to read it fully. I have read and listened to a number of her interviews, and she spent time with NPR’s Terry Gross this week talking about her book and experiences. http://www.npr.org/2013/03/18/174419920/still-point-a-meditation-on-mothering-a-dying-child
Having a diagnosis gave Emily time to process letting go – we had that, too, but it took us much longer to get to a place where we knew we would focus on Hannah’s comfort because nothing else was working. For us, time was truncated into a few months of comfort care. After a year of trying every type of seizure medication, we couldn’t help control her epilepsy. Now we know it was due to this gene mutation.
We hope that part of our sweet baby Hannah’s legacy will be to help document this gene mutation, and offer another clue for Neurologists to investigate when a baby presents like ours.
So tomorrow, we hold each other close. We go to the edge of the water to Hannah’s bench, look out to the city, release balloons with our special messages up to heaven, and continue to dream about our wonderful, amazing baby.
This little girl below moved me – I don’t even know where I found this image, but it was in my photo stream on my Iphone as I was browsing today – I must have saved it close to a year ago.
This is how I picture Hannah – in a field of flowers playing and dancing – our sweet 2-year-old lover of life.