My husband is a bit more private than I am.
I need to talk to think and learn and process.
He is so much better at many of these things than I am and doesn’t need the talking.
I wanted to share part of an email he wrote that shows in his words what is going on and how good he is and putting all of this together.
It’s been a rough couple days, I’m sure for you all as well, made even more difficult by feeling far removed. So I thought I’d update you on what’s been going on.
The four of us spent the last two days together at home, mostly playing with Daphne and alternately laughing and crying. It’s been a true mourning period as we grieve the loss of Daphne’s normal life, which she almost certainly will never have. Sleep is scarce and idle time brings waves of heartbreak. We are holding up well materially (Adelaide is happy and well cared for, the house is clean, dinners are on time, etc.) so please don’t worry about that. We do have supportive friends and neighbors that have given assistance there.
But the time for mourning is coming to a close. It was necessary and a little therapeutic, but it is not helping Daphne. She is still with us, and we aren’t giving up on her.
All we know for sure now is that she has a metabolic condition that is affecting her brain development. The specific metabolic pathway that is deficient has yet to be identified. The metabolic specialist is confident that the genetic tests that are pending will nail this down. We expect those results in about 2 weeks. Because these conditions are so specific and rare, it is usually the case that only 1 or 2 research groups in the country are actively working on any given condition. Our hope now is that the results of the genetic test will allow us to get hooked up with such a research group conducting clinical trials of treatments.
These diseases are considered progressive, but they often don’t progress in a steady manner. There are periods of relatively normal development punctuated with periods of regression. We witnessed this firsthand with Daphne. It is also the case that periods of regression can be triggered by external stresses (infections, fasts, etc.). While we wait for the genetic results we are doing all we can to give Daphne’s brain what it needs to develop (vitamin supplements, protein rich diet, additional nighttime feedings). There is always the hope that Daphne has enough of a residual amount of the deficient co-factor that she can continue to develop.