Saturday, July 20, 2013


So, A LOT has happened since we moved to the new house on June 21st. Instead of making this a novel, I am going to list the main events that have taken place:

1.) Lucy started having trouble breathing. She is sometimes holding her breath and then taking big, fast breaths, almost like hyperventilation. This is from Rett Syndrome. Girls develop irregular breathing patterns. Dr. Sasha in New York wanted her to do a breathing study, but our insurance would not approve it. We are waiting for her to decide what to do from here.

2.) Lu starting having staring episodes again. We did an outpatient EEG that did not show seizure activity within those 45 minutes. Dr. Sasha also wanted us to do an extended EEG after the breathing study, but since the breathing study wasn't even approved, we aren't sure when or if we might be able to get this done.

3.) Lu has started to not be able to sit up on her own a lot of the time without support. She has been able to sit on her own since she was about 7 months old, and now she is losing her balance and just falling over. She has never been able to get herself into sitting, so she is stuck there until we help her up.  We bought her a bean bag chair that is shaped like an armchair because she just couldn't stop falling over and she seems to love it!

4.) There has been a significant increase in the degree of apraxia that is affecting Lu, which has resulted in a significant decrease in things like how much she uses her PODD, how she plays with toys, and how she uses her hands in general. Just weeks ago Lucy was able to pick up toys, look at them, put them in her mouth, and now she seldom picks anything up. She was constantly putting her Chewlery (her chewing necklace) in her mouth and chewing on it, and now it just hangs around her neck and even if we put it in her mouth for her it just falls out. And, she has barely used her PODD.  We keep modeling and asking her if she has something to say, and she most often says no, whereas a month ago she always said yes. Last night after supper, she did have something to say and it was the longest complete thought she has managed to get out in several weeks and she said, "It's, frustrating, can't, let's do something else, communication device". I realize that probably almost sounds made up because it is so spot on and maybe not how you might expect a three year old to express herself, but she knows how to use her PODD and she uses the words available to her. Linda, the PODD trainer, said that when the apraxia is too much at times, the girls might just not be as chatty as they usually are and will just say what is most important to them. So, as we suspected, she hasn't been using it because it is just too hard and too tiring to get her head to make the yes and no movements. Almost as soon as she got that sentence out, she fell asleep. 

5.) I just mailed in letters to appeal the second denial of Lu's Tobii and also for a complaint I am filing with Gateway because I don't believe they contacted the correct doctor for a peer review before deciding to deny us again, so I have been getting that all together. 

6.) One day, early in June as I prepared supper, I got a phone call from the genetics counselor at Geisinger who said the test results finally came back on whether or not I am a carryier for Rett Syndrome: I'm not. I did not feel relieved, oddly. I cried. I think I cried because I felt like maybe if I was a carrier then that would at least be an explanation for why this horrible thing happened to Lu, but as it turns out, there is no explanation. There's a 1-2% chance that every woman's pregnancy will experience a RANDOM GENETIC MUTATION, and we were in that mind-blowingly tiny percentage...awesome.  And then, as we ate supper, I got an email from my doctor with some bloodwork results I had done because I wasn't feeling well at times and I found out my insulin is "very high" and my blood sugar was high. I did some more tests and fasted for them and my blood sugar was normal that time, and my cholesterol was normal, but my insulin is still a concern. Your insulin level should be between 3 and 17 and mine was 76.6. I have started eating way better, taking a medicine called Metformin, and losing weight. This should hopefully prevent diabetes. 

7.) And, Lucy has gone to her first two days of summer preschool! She likes it, smiles the whole time, and things are going very well there. Her therapists are wonderful and are really doing everything they can to figure out how Lucy can be most successful and incorporated  into everything that is going on as easily and smoothly as possible. I have been there the whole time with her as they still haven't found a personal care aide for her and even after they do find one I will stay until I feel confident that they are going to take good care of her. I think it will be great for Lu to go to a little bit of school.

So, things around her have been stressful and kind of heartbreaking and frustrating. I don't know what is happening to Lu and its agonizing, but we will hopefully get it all sorted out and get back on track.

New chair

First day of summer preschool

1 comment:

  1. So glad to hear Lucy is enjoying preschool so much. So frustrated for you with all the not good changes and especially with all the stupid insurance denials...