Since I’m not sure if everyone was called/texted yesterday, I thought I would update really quick. I got a call from the geneticist yesterday saying that the test results were in. She has two copies of the mutated genes, which means its officially official – Madeline has biotinidase deficiency. Nothing changes now..we’ve been giving her a supplement everyday for the past month and half and we will just continue to do that for the rest of her life. As long as she is taking the supplement, they don’t anticipate any problems. I know it really isn’t ground breaking news and I guess it was to be expected, but I suppose a little part of me was holding on to some hope that the test would come back negative. I don’t think I even realized that I hoped that until I got the phone call. It definitely had more of an emotional impact than I anticipated. In the long run, this isn’t a big deal, and I still have a perfect healthy baby, but at the same time, I can’t help but have some weird negative feelings about giving her any kind of problem, small as it may be.
From Nanny in Fairburn:
ReplyDeleteLindsay, Derek - my heart goes out to you, we will have to hang on to the fact and know that she will be okay with the care of the medication. She is a beautiful baby, take care, love and love.