Monday was a very busy medical day with a lot of new "pieces" to the puzzle. Since neither of the girl's issues have been clear cut diagnoses, I've started looking at their medical stuff as a puzzle. Each test we get results for gives us another piece of the puzzle and eventually, I hope, there will be something recognizable there. We started the morning bright and early downtown for an appointment with a neurologist who specializes in sleep disorders. We reviewed the results of Leah's sleep study and she has sleep apnea. He ordered a second sleep study with a CPAP to take measurements and then they will order her the machine. He said that Leah's is not the typical sleep apnea where people hold their breath. Instead her body slips into these patterns where her breathing becomes slow and very shallow. This causes her to wake up (not where she knows it) and is causing her to have fragmented sleep. This could be why she seems tired often, wears out easily, requires more sleep and is so emotional, especially when she's tired. He doesn't think it is extremely serious or life threatening, but he does want her on the CPAP every night. He was not certain if this breathing pattern is because of whatever is going on muscularly or if it is a result of the way she was made (tiny airway, tiny mouth, etc). If it is muscular, it could improve as we work to get her stronger, but could worsen if her overall tone worsens. If it's structural, it could get better as she gets bigger. Either way he said to plan on the CPAP for the next few years, minimum.
After the appointment we went back down to the lab. With all of our insurance changes, we don't have the luxury to sit and wait for the DNA results to come back to know what tests we need to order next. The DNA takes 6-8 weeks and by then the new plan will be in effect with the new deductibles and policies. Our neurologist at the MDA clinic decided to go ahead and order the next round of tests so that we could get those covered on our current plan as well. This blood draw was no better than the last and was made more difficult by having Kate with us. Leah was in one corner screaming, kicking and hitting and Kate was in the other holding her ears and yelling at Leah to stop scaring her. After a few minutes of screaming, "the enforcer" came in. She remembered Leah from a few weeks ago and recognized her by her scream before entering the room. We were able to get the draw and will know the results of those in 6-8 weeks too.
From there it was off to the cardiology clinic for her echo and EKG. Since her muscle weakness is all over, there is good reason to suspect it will or can effect every muscle. She has been having occasional accidents and has very little ability to wait when she feels the urge to go. Despite living 2 miles from the school, we have to stop at the gas station on the way home quite often. I don't believe that this is an attention seeking act, especially after seeing how distraught she was the last time this happened in public. Back to the heart.... The MDA doctor wanted to get a good look at her heart just be sure the weakness wasn't affecting it. By this point Leah was exhausted. I think walking into the echo room scared her too because it looked similar to the sleep study room. She hated the sleep study. At it, she screamed every time they cleaned a spot to put the electrode on and taking them off was a nightmare. The tech had asked if she was always so difficult and frankly I was embarrassed by her behaviour. However, two days later she still had red marks all over her face and after talking to others who have had them, I think she had a reaction to the cleaner. When we walked into the echo room, she hid in a corner and was completely uncooperative. I finally carried her over to the bed, pinned her down and we got it done. She has such a hard time with so many of the tests and it is heartbreaking and so stressful to be the momma having to go through it with her. The last few months have been very reminiscent of the week she spent at the hospital as an infant.
From there, we went to physical therapy. Leah absolutely loves PT and her physical therapist Miss Kelly. I had discussed my concern with the discrepancies about the level of weakness that we've heard from doctors, therapists, etc. last week. As a result, she decided to schedule a specific evaluation for this session so that we could have something more tangible. This evaluation has a list of activities for Leah to try and then gives a percentile for her results. It showed she is in the 16th percentile for 5-6 year olds (she is 7). This is probably about what I would have guessed. Kelly did say she felt that this was higher than what it would have been months ago when we started therapy. It is great that we are making some improvement, but we still have a long ways to go. She said she would not be comfortable releasing her until she hit at least the 50th percentile. It is nice to have a number and a goal though.
I talked with the MDA neurologist on Friday night and he has an appointment set up for us to see the surgeon for the muscle biopsy. We will see if we can get that done before the insurance change (in 6 days....very slim chance) and if not, we will wait until we get all the DNA results back. We may put that off until after January 1st to get it in on the new deductible. I asked about the echo and EKG results and he thought they were all in. We had them done at the same time at the same place by the same tech which means that the same doctor read them both and reported on them. However, only the results for the EKG were in the system. He said the results for the EKG showed that the left side of her heart was enlarged (which is a sign of heart failure), but that this may or may not be true. The echo shows an actual picture of what is going on versus just the electrical activity. Trying to track down the echo report at 6:00 on a Friday seemed impossible and he said he would call first thing Monday morning to find it.
Both of my girls are excellent at situations like this. We constantly hear things like this. It's always for highly probable stuff too. If she had muscle weakness in her heart, there is a good chance that this is what it would look like on an EKG. We never get incomplete ridiculous answers like, "The lab work shows your 7 year old is really male" or "It appears your 3 year old is pregnant". It's not that I want to hear something bizarre like that. It's just it is always stuff like this where it makes too much sense and leaves you hanging over a weekend (usually a holiday weekend) trying to make sense of it. In theory if her heart is damaged, that could cause the tiredness and sleep issues and many other symptoms. Or it could be nothing. Who knows! I seriously think my kids are in a contest to see who can out do the other one and who can make my hair turn grey the fastest. Either way, the echo should clear up what is or isn't going on in there and will give us another piece to the puzzle. If there is an issue, the doctors know this is something that is effecting every muscle and it will help guide them in what to test for. If there is not an issue, we know that even though the weakness seems to be effecting everything, it is not severe enough to be effecting her heart. One piece at a time, Lord willing, we will figure out what is going on.
No comments:
Post a Comment