Life with Ella and Emerson

This is a blog dedicated to my beautiful daughters, Ella and Emerson. Emerson was diagnosed with a rare, genetic disorder called Williams Syndrome when she was 5 months old.

My Photo
Name:
Location: Wisconsin, United States

Tuesday, November 21, 2006

Genetics Update

After waiting 1 hour to see the Geneticist, the shakiness (so far) is nothing to be concerned with. The doctor thought that it is probably a combination of her low tone and the increased calcium in her system due to us now mixing in regular formula. She wants me to monitor her and that shakiness is really only concerning when it cannot be stopped either physically or with distraction. This is the gist of her rather long explanation. So all good news, even though I felt like I was probably over-reacting. Thankfully, it was Emerson's pediatrician who saw the shakiness as well and sent us to the Geneticist. While we were there we also went through her plan of care and everything looks on track. By the her 1 year birthday she will have to see an Opthamologist and very soon a Nephrologist for her high blood pressure. They also took her stats and are you ready, she weighed 17lbs 5oz. A very big girl in the WS world!

Other good news is that Emerson does not have to have an MRI. Her Cardiologist overlooked a CT scan she had in the summer and Emerson does not have a double aortic arch. She has a normal "abnormal" called an aberrent right subclavian artery. This is apparently nothing to be concerned about. So really we just have to get her blood pressure under control.

Thanks for all of your responses to my last post. They definitely set my mind at ease. There is something very reassuring knowing that some of us have had very similar experiences. Thanks for that!

6 Comments:

Blogger Kerry said...

Yeah! I'm so glad it all worked out. Don't worry about "overreacting" . No such word. We all have different levels of what concerns us and it is always helpful to hear everyone's take. You are Emerson's angel and you know what you need to look out for. It worked out in the end! :)

17.5!!! Holy cow - can I ahve a few pounds?? :) Happy turkey day!

8:30 PM  
Blogger Kati said...

Yipppeeeeeeee! 17,5.... she is a really big girl, so you don't have to worry about her weight :D
Strange question with the low muscle tone and calcium...hmmmmmmm... if you got the answer, please share it with us!
I hope that after you visit all of the docs, you don't have to meet them for a very long time!!!! :)

Love, Kati

11:26 AM  
Blogger Aspen said...

What a big girl! Good for her, something to be proud of!

Glad to hear all the good news. Now enjoy the holiday!

LOVE LOVE LOVE

3:02 PM  
Blogger Amy said...

No major concerns is great and a chunky little babe! I love it! Strangely, did you know that HYPOcalcemia (low calcium) causes shakiness? I recalled that over the weekend.
XOXO
Amy

6:21 AM  
Blogger Lisa said...

What a chunk her and Tate both :) When is Emersons Birthday again. We go for Tatums Check up on Thursday :)

2:22 PM  
Blogger Ava's Grandma Kim said...

YeeHaw! I am so glad Emerson is doing ok. I remember when Ava was in crisis it seemed that every appointment that went well felt like the poor kid had just dodged another bullet. It just doesn't end, does it? Hang in there, girl. I know that things will settle down.

4:52 PM  

Post a Comment

<< Home