Three months after getting genetics blood work taken, we finally got the call with the results! Last Wednesday, I was putting away groceries when I saw that I had a missed call and voicemail from a number I didn’t know. Whenever I see the particular area code that popped up I always assume it’s a doctor or a therapist so I listened to the recording right away. The genetics counselor said she had Paige’s results in front of her and was ready to go over them but, since it was the afternoon, she would call the other contact number (Andrew) before trying to call me back. All the while, Andrew was on the phone with her and I was waiting not-so-patiently until he texted me,
“the news is good..”
Paige’s Lissencephaly is due to a mutation on Chromosome 17. This type of mutation is something that happens for the very first time in families and neither Andrew or I carry any gene that caused this to occur. There is no real science behind it or explanation for why and the chance of this ever happening again is very, very, VERY, low. Like, less than 1/1,000,000 chance of happening again low. When it was explained to us before, it was the “genetic freak accident scenario” and it was something that just happened.
For our family, it’s probably the best news we could receive and we feel thankful. While it eases some of our fears about future family planning, it also felt like a weight lifted off of my shoulders now. It’s still pretty maddening to not really know why, but every bit of new information makes it easier to move forward. This did not happen from some illness that I acquired, or from a ham sandwich that I ate, or from anything that Andrew or I did. It’s just something that happened and it makes Paige that much more special. It. Just. Happened.
A few of my previous posts have been written after some pretty bad and emotional days and might have come across as negative. I do not want to be a negative person and I don’t want to spend my time worrying over things I have no control over. In a weird and convoluted way, I think the “it just happened” explanation helped shift my attitude. No one asked for it, but it happened, and we’ll make it work. As we’ve said before, this won’t make our lives worse. It will make it different than what we expected, but we will still live a full and happy life. I sort of had a revelation after last week (scary, I know) and I came up with this…
I would be devastated if my parents were disappointed in the things that I could/could not do and wanted me to be something that I was not. Everybody really just wants to be loved and accepted for exactly who they are – and Paige is no exception. Paige needs me, especially as her mother, to just love her, be there for her, and celebrate her for what she is. It really doesn’t matter anymore if she’ll ever walk, talk, or fly to the moon. Andrew, Will, and I will help her little self get as far as she will go and, however far that is, we will be so proud. We are already so proud – and that is something that will ALWAYS happen.
I mean, honestly, how could you NOT love this girl?!
Tomorrow, Paige will have a Feeding and Swallowing Test done to see if she’s aspirating. Aspiration is very common with Lissencephaly and can lead to infections (pneumonia, in particular), other pulmonary issues, and a slew of other problems. There will be a team of doctors that will observe her while she eats. If they find that aspiration is a problem, they will make suggestions like thickening her food, changing her bottle, or even a feeding tube, depending on how severe it is. While Paige has been a pretty excellent eater, I’m expecting some sort of modifications. Occasionally, she coughs during a feed and sometimes, though very rarely, she’ll throw up her food after meals. Whatever the outcome, I’m sure that it will lead to whatever is best for Paige and our family.