Wednesday, July 20, 2011


It has been a while since I did any update on Elles, so I thought I'd just write a little up. First and foremost, I think I mentioned the results of her Angelman's test on a random post, but not on an official Elle update post. She got a negative and this was disappointing because we are at peace with Angelmans and we like the thought of a diagnosis, which we can concentrate on and move forward with. Also, lets face it- we have accepted that she is severely delayed and will be so her whole life and when it comes to disorders that are in this wheelhouse, having the one that is marked by being a happy person sounds pretty good.
We didn't like the fact that it was negative also because that means more testing, more waiting for insurance approval, and possible MRI's, etc. The neurologist immediately called to get an MRI scheduled. Elle's pediatrician called and expressed his surprise that the test was negative for one basic reason: he says
that when Dr. Carey sees a patient and makes a call on what he suspects- he is almost always right. Dr. Wise (Elle's pediatrician) told me that Dr. Carey is the smartest man he has ever met in his life.

(Let me just stop for a minute and express my gratitude that Dr. Carey was assigned Elle's case. Rob and I felt instantly upon meeting with him that he was a doctor we were going to like and was going to help
us. He listened really respectfully to us (even complimented us several times on our questions), he carefully explained everything he was talking about to us in a way we could understand (well, as well as a layman can understand genetics), he also was so cute with Elinor and got a kick out of her Sesame Street stuff (including the fact that her diaper was Sesame Street themed). Anyway, we really liked him right away and were surprised to walk out of that appointment with a tentative diagnosis. This is him by the way. Before reading that I had no idea he is the Editor-in-Chief of The American Journal of Medical Genetics. Very cool and I think that no one could dispute that Elle's care is in just about the best hands possible.)

Anyway, when I was talking to Dr. Wise, he told me that the next step would be genetic sequencing and that is re
ally hard to get approved by insurance. He suggested another Dr at U of U Med Center that does research and we might be able to get him to do this on Elles as research and he supplies genetic counseling and stuff like that. That sounded pretty good, so he said he would contact him. I got a call from him that next day and he got our insurance info and was going to call them and see what he could get approved, and he would look over Elle's case and what I read between the lines was he would see if insurance would cover his costs and if not, see if Elle's case was interesting enough for him to use some of his research money on. That's fine, but upon hearing this, Rob started getting nervous that too many people were pestering our insurance and they were going to shut anything else down cause too many avenues are happening (we had gotten the news that insurance approved the MRI we weren't even sold on wanting). Rob called Dr. Carey's office himself and left a message. He and I totally agree, that out of all the doctors that has seen Elle, Carey is the one we trust the most to have the best plan for her and we thought he should be informed on anything happening to her and get his opinion on what's best. Dr. Carey returned Rob's call the next day, and agreed with him that insurance could do exactly what Rob feared. Then he gave Rob the surprising news that he had gotten approval for everything he wanted to do. Remember when we were waiting and waiting for approval for the Angelman's test and it took forever? Well, it turned out that Dr. Carey had laid out his total plan for Elles to them and gotten the whole thing approved! (kind of a: I am going to do this, and if it comes back negative, then I want to do this, and if that doesn't work, we'll do this.......) I was blown away!

He went on to explain that we got really lucky with the insurance we chose (we had two choices when it came to the kids and I happen to choose the one that ever approves tha
t sequence test) the other one never does. The one I chose is the less popular one too (by far). So anyway, that was a major blessing. The news got even better when Dr. Carey told Rob that they had enough blood left over from Elle's vial to do the sequence right away, so we didn't even have to take her in again to get blood drawn. We are all happy about that. So, we are I think about 3 or 4 weeks into that test and haven't heard anything, but we will let you know when we do. This test will map out Angelman's if it's there and most other genetic abnormalities whatever they may be. Dr. Carey also told Rob that she could just be diagnosed with being "Angelman Like" which is an actual diagnoses. Like if she isn't found to have anything specific, but her symptoms match Angelman's the most, you can be called Angelman Like and that is what you have. I think I could live with that.

As far as therapy goes, we have had some slow p
rogress this summer. With summer plans and moving, we have had few appointments and haven't worked real hard on her exercises. We have worked some though and she is doing good. We are noticing less hand clenching and her little thumbs are looking better because of it. Not only are her thumbs looking better, but she seems to grasp toys better and is eating more with her left hand. She also is starting to grasp for toys with both hands at the same time which is great news.

She also got some new wheels:

This one fits her so much better. It is a trick getting her in this contraption, but once she is in there, it fits well and holds her well and she likes it. In the past few weeks, she has gotten really deft at going backwards in it. She has caught on that she can move backwards and she does it really well. We haven't seen Betsy since, but I know she will be pleased because just the fact that Elle recognizes th
at she can get places in her walker is a great step (even if backwards isn't ideal, it should lead to forwards eventually).

Well, that's good for now. She continues to be a joy in our lives and the best little snuggle monster there is. We all just love this little girl!

"Preposterous. I swear I haven't been eating the bubbles, mom. Surely you jest."


Amy said...

"Little Snuggle Monster" cute! Sesame Street should name a new monster for Elles. Thanks for the update. Sounds like lots of good things are happening. Hopefully a diagnosis will come through soon. Love you all.

Haley said...

Thanks for the update. It's so great when you find a doctor who takes the time and really cares. It's also great when they go out of their way to help their patients, like he did for you. That's awesome. I'm glad everything is working out, it's hard enough to deal with this without having to worry about insurance crap. Yay. Anxious to hear about the results. Those pictures are so cute, she's such a sweetheart. We are going to miss you guys :( Come visit us in PA!

Cat said...

I've got a couple of these bathtub photos up on my wall here at work. Her darling little face sure is attracting a lot of attention around here!

Sahariar said...

cute baby what is your name?

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megandjon said...

yay! what a miracle with the insurance and the doctor! he especially sounds wonderful!


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