Saturday, September 22, 2012

Little Ole Awesome Lu

Well, it is 7:46pm and we are on our way home from the Big Apple again!  Today we had our second appointment with Dr. Sasha, the Rett specialist. In addition to seeing her, we first saw the gastrointestinal doctor at the Rett Center and a swallow specialist who took an x-ray of Lucy while she ate and drank. We left at 6:15 this morning and are still probably an hour and half from home. Lucy, as usual, rocked the face off of this big, long, exhaustingly tedious day! She was patient, sweet, smiley and only very minimally fussy a time or two...except for when she had her blood pressure taken with the cuff! She freaked out! I think that maybe after all of the doctors she has seen she might have never had her blood pressure taken with the cuff and she did NOT like it! She does better getting shots and blood drawn that she did with that! Anyway, I have lots of news to share!

First the bad news: NOTHING! It's all super great news so read on!

The GI doctor was extremely helpful and gave us some different medicines to try to tweak Lucy's reflux and constipation regimen. The doctor she saw once through Geisinger first prescribed her a medicine called Axid which worked for a month or two and then quit being useful. He then prescribed Prevacid once a day which is now helpful, but then he also wanted to do an upper endoscopy. We wanted to see the doctor at the Rett Center to just get a second opinion on the necessity of such an invasive procedure. And he said he likes to not do things like that until kids have failed all therapies (ie. medications) that he wanted to try. So we left with a prescription for Gaviscon and a liquid senna to help her intestines move the waste though more efficiently. Much simpler solutions than sedation and a tube down her throat I'd say!

And then we saw Dr. Sasha! She said that Lucy has made more progress than she expected and she was very impressed with all she's learned in 6 months!  We then showed her how Lu can stand in her AFOs and I helped her take a few steps toward Dr. Sasha and she said, "Maybe I will be wrong about her not being able to walk! I like it when I am wrong!" she was very excited!  Next we talked about what we have been doing communication-wise and I explained how in speech and throughout the day we have been working on having Lucy look at us for yes and away for no and that we have also started focusing more on her using eye gaze to tell us what she wants or to find things in a book. Dr. Sasha was also VERY excited about this and said that she has decided to lower her threshold for when she thinks girls can start working with the Tobii, which is a special communication device that uses Lucy's eye gaze to operate instead of just her hands. I had asked her about this a few months ago because they are around  $20,000 so I know we will have to do work to get her one, and she said then that she wasn't old enough yet, maybe we would look into it after she turns three. Well, yesterday we went to the room beside Dr. Sasha's room and Lu first did a few tests to see if she was even capable of focusing enough and to make sure her eyes would calibrate. Lucy looked at the screen 71%, 78%, and 64% of the time in the three different tests. The speech therapist who does the testing said that is like where adults score!!! She kept saying that she couldn't believe she is only two years and four months part due to her size, but mostly because of how awesome she was doing! Then she got to use the actual Tobii and was able to navigate around through a couple of different screens...all with just her eyes! It was amazing and at one point looked at picture for hug several times so that I would hug her! So, Dr. Sasha said we will begin the process of getting a Tobii right now instead of waiting because she did so great with it! YAY!

And finally we had a swallow study done where another doctor gave Lu different things to drink and eat and we watched it go down by doing an x-ray of her throat. We needed to make sure that even though she coughs, gags, and chokes sometimes that everything was going down the right pipes.  The verdict was that there is not currently any risk of aspiration and she said everything looked safe! She said her swallowing abilities and chewing are classic for a girl with Rett, but not in any kind of danger zone, so even more great news!

I finished this on Saturday...we did not get home until around ten and were all super exhausted.  We hate having to go to New York terrifies us, but it is definitely worth every second of the long journey to know that we are on the right track and that Lucy is kicking Rett Syndrome's sorry keister!


  1. This post made me cry. Thanks a lot. Oh, I am so happy for you and Lucy. I love you!!

  2. Good to see that I'm not the only one with tears in my eyes after reading this! Awesome, Awesome and then a few more times AWESOME!!!
    Keep up the great work Lu (and Julie too.)