Friday, November 16, 2012

questions and answers

We got Amelia's diagnosis yesterday, though it really doesn't tell us much at all.

She basically received, from either Ray or myself, an extra segment of one chromosome which went and banded with another chromosome. It's called a translocation.

While we know this is what is likely causing her struggles, we do not know what it means in terms of her future life. It could have mild effects that she can overcome with therapies and practice or it could be more serious. 
 
There are only a handful of documented cases very similar to hers and our neurologist is working to get a hold of them. But, even once she does, they won't really tell us too much more since it is such a small sample set.

We will continue with her therapies and will be seeing the neurologist fairly regularly for the next couple of years. We go back in January for a checkup. She will likely redo the MRI (and swallow study) in early spring.

Meanwhile, Ray and I (and probably Lola) have been referred to a geneticist to figure out which of us passed along the extra genetic material. 

Millie's EEG was normal, which is great. But the neurologist wants us to still put her on anti-seizure meds for the next two years. With her abnormal MRI and seizure, she still recommends treatment.

Overall, we're doing OK with the news. We now basically know why she has the struggles she does, but not what that means for her future.

I think, honestly, Ray and I are taking it as good news. No one is telling us that she can't or won't be able to do certain things five, 10, 15 years from now. 
 
We continue to celebrate her physical improvements and pray that her feeding and speech struggle show improvement as well in the coming weeks and months.
 
***
 
It's my blog and I'll brag if I want to.
 
It's rare in life when I feel like a super mommy. I doubt myself and my actions much more often than I feel confident in them.

The goal was to get Millie to sleep during her EEG.

I didn't know if this was really possible. I mean, she had electrodes glued all over her head and wires sticking out everywhere.




 

I woke her up early, so I knew she was super exhausted by the time of the test, but she kept trying to putt everything off her head and was fighting against sleep. The technician finally said that if she didn't sleep in the next 7-10 minutes, we would move on...

With the lights turned off, I laid down next to her, covered her with her favorite blanket, didn't touch her (rubbing her back only made her jumpier) and just said "Shhh" over and over and over and over again.

And, amazingly, she fell asleep. They got about 15-20 minutes of sleep-time activity recorded.

Super Mommy.
 
Of course, when I told Ray a half-hour later that I was so proud that I got her to sleep, he just kind of blinked at me funny, "Well, she was super tired. I figured she would fall asleep."
 
Eye roll.

Trust me, it was much harder than it sounds.
  
- Bethany ;)

1 comment:

Anonymous said...

You are super mommmy! Love all of you..mom