Thursday, October 20, 2011

8 months old already!! + Genetic Test Results

Hi all,
I know it's been a while, things have been very busy lately, as always.
Leah turned 8 months this past Monday, and we can't believe she is getting so big! She's at 14 pounds now, and continues to grow out of her clothes very fast. She's been doing a lot of great stuff like trying to get on her knees, while she tries hard to lift her head, when she's doing tummy time. She has been keeping her head up when she's on her tummy, though she still lacks some control, and has some of the spastic movements, but compared to how she was doing 2-3 months ago, she's improved a lot. She's also starting to turn onto her tummy, and and from her side to her back, which is also really great.
We took her back to Dr. Bill's office last week to pick up her custom made glasses, but they didn't quite fit properly so we're taking her back next week after they've modified them and fir them again. Hopefully they will fit better this time and she can start to see better as well.
She's continuing to receive her vision therapy twice a week as well, which we think is helping.

She has been a bit sick, we think she may have another bug of some sort or possibly an infection again. We took her to the doctor yesterday and they took some blood and trach samples to culture and see what she has. We're hoping it's something that can be treated with a respiratory antibiotic as opposed to the recent antibiotics that she;s gotten by mouth. Those always give her diarrhea and then she gets a rash, and it's just a vicious cycle. She hadn't really been sleeping well since Sunday night until Wednesday and that is what prompted us to take her to see the doctor. Her sleep cycles were non existant and I think she slept a total of 4 or 5 hours in almost 4 days, so we tried giving her melatonin, which is a natural chemical your body makes to induce sleep. She's been on it for a couple days and it seems like it is helping. On top of everything, she's also teething like crazy. She hasn't gotten any teeth yet, but it seems like she's very close, and I think she has some bottom teeth that are starting to come in.

We also will be sending her medical records to some other doctors that our pediatrician has recommended. The neurologist at CHLA is one of them, but he has no appointments until March of 2012!! So, we're on the cancellation list also. We got the results back from the genetic test that they did of her whole DNA sequencing. They did not find anything remarkable that could give them an idea of what she has. They did find about 400 mutations which is normal for anyone, since we all have different genes. But, they compared all the genetic markers for basically all the disorders that they thought it could be and the ones that match her symtoms, and none of them matched hers. So, we're back to square one, as far as knowing what the hell is going on. We're determined to find answers, even if that means we need to change our team of doctors at UCLA and find other hospitals or groups who can help. However, with our insurance plan it's a bit difficult to say if we'll be covered if we do that, so I'm looking into what other plans my job offers and weighing in if we can get a better insurance plan.

Well, I just wanted to give a quick update, since I know it's been a while, but I'll post more soon, and I'll post pictures too, I promise! You can get more recent updates on Leah's Facebook page

Thank you to everyone who has helped us with donations as well as those who leave us comments and send us caring messages on our blog or FB page. Every little bit helps, and even if people don't donate anything, it's nice to know that you're all praying for our little princess and our family. Your prayers give us strength to keep going, thank you.


1 comment:

  1. feel better my little nugget. frani. i know you work hard to keep things going at home. you are my chica! strong and a latina who get's the job done. your little girl has no idea right now what an amazing momi you are. we send you love and light always!