Where to start? Okay I will start with talking about the cough assist. We finally got this thing. However when it was delivered by our respiratory therapist he was not looking super happy about delivering it. We are all concerned about how this will affect Maggie. He went on to tell us that he is really nervous because Maggie is so tiny and fragile that he isn’t worried so much about the machine filling her lungs up but rather the part where it takes all the air out. So it will basically collapse her lungs to try and get her secretions out, basically making her cough. Which should then help her to not get so many pneumonias. So anyway because Maggie is so weak and she has so many lung problems there is a fear that her lungs may not open back up and we could be in the hospital with a collapsed lung. So after discussing this for a little while we decided to go and rediscuss things with her pulmonologist. There is also a concern because her body has adjusted to being under ventilated and compensated for the acidosis and alkalosis. Yes, she has both problems. It’s very confusing because so many organs don’t work well that its causing both. So anyway it could end up causing more problems if we do get her lungs to open up fully. It isn’t good for them to stay this way either but we need to find out which one will cause more harm or rather which one will be less painful and uncomfortable for Maggie. And that is where we are at with that situation. We seem to always be stuck here.
I also had a pretty in depth discussion with one of her GI doctors. Yes, we have more than one, she is very complicated. We actually haven’t really been to see her GI docs in a while because our last conversations were them wanting her back on TPN and us not ready to put a line in her knowing what would happen. So anyway this doc went back through all of her testing from the time she was born and got all refreshed and up to date with Maggie. Everything except he couldn’t find the testing info from Atlanta. I’m not sure if the doctor that was sent the info from Atlanta just didn’t send it to him since we weren’t on bored with what they wanted to do or what. So we went over it all over the phone. I have all that info in a binder so I gave him all the test results for all the tests. It was a very long conversation.
While discussing all of that, we got to talking about this gj-tube Maggie will be getting very soon. He is working on this right now. The reason it is taking some time is because we started to talk about what formula we were going to run through her tube 24 hours once she got it. We went over all the formulas that we have tried which is a lot of them. The last one we tried being peptamen jr which did not work at all. He then said that from looking at her test results that she has had multiple times since she was a baby. Mostly he was looking at organic acids. Anyway he said he wasn’t surprised that peptamen jr didn’t work. I explained to him that her testing for organic acids was really off from Atlanta as well. He started naming the list of things that were off and it matched what was off in Atlanta. So he said that she most likely has another disorder on top of mitochondrial disease which is fatty acid oxidation disorder. These can be really dangerous disorders. While going over all of the testing from Atlanta they had seen several things that suggested she had a fatty acid oxidation disorder however when they tried to do this test while testing for mitochondrial disease, that test had failed. Not meaning that she was negative for this disorder just meaning, for some reason the test just didn’t work at all. So she was never officially diagnosed with this. We are told that in order for her to be diagnosed she would need to have enzymes taken from her liver to be tested. She is too weak right now to undergo this so we will need to wait. If she does have this disorder like all of her testing here and in Atlanta suggests then we may have a more accurate way to find the gene for her mitochondrial disease and we may also have a more specific name for her mitochondrial disease and the fatty acid oxidation disorder together. Its all very confusing. In the results that we had received from Atlanta they listed some possible names of these that she might have. However we did not understand that these and all of her other abnormal tests went together and we obviously weren’t going to put her through another biopsy and when offered a liver biopsy we all just didn’t think she could handle it. They had suggested that to us in the summer at some point. We were not told that we could have gotten more info and possibly an easier way to find the gene with the info. This is why it is so hard to live someplace that doesn’t have a mito expert nearby.
Anyway our GI is contacting Dr Shoffner in Atlanta to see what formula would be best with this possible problem. Once we get that then we will be able to go ahead with the gj-tube and see what happens. The GI is not really optimistic about her stomach at this point but we will do what we can and see what happens. We just know that with her history of refluxing out of her intestines and into her stomach things will just not work. For those wondering why we are trying this out, its because of the amount of air and food that sits in her stomach. So while we slowly feed her through her j port (the tube that will be sitting in her intestines) we will have a bag attached to her g port (the tube that sits in her stomach) that will constantly be getting all of the air and food that she eats by mouth out of her stomach. If she does have this fatty acid oxidation disorder then we don’t want certain foods to go through. We only want the formula that is best for her to go through because certain foods will cause more problems. Maggie loves to eat so we could never just take that completely away from her. I’m sorry that this is so confusing. Its really confusing for me as well. Some of the other mito families may understand it better but its really hard to try to explain this all writing it out like this. So if anyone has questions feel free to ask, I will do my best to answer. You can Google fatty acid oxidation disorder to get more info on what that is as well. When we have a better idea of which one she has or may have I will let you know. The few that Atlanta had put in Maggie’s results were not good but unfortunately fit her exact symptoms well. The other thing is that if Maggie does officially get diagnosed with this then our other kids will need to be tested as well. It could explain why they eat as much as grown men and are still thin. They both can really put it down its crazy how much they eat and can sometimes be a little embarrassing when we go to other peoples houses. We will see.
As for Maggie she is still in a lot of pain. Its kind of strange because she normally has surgeries and things done and needs minimal pain meds but for some reason she is super uncomfortable and her tummy is still very sensitive. They put the camera down when they changed out the tube and we could see that there was some trauma but I guess maybe there was more than we could see. I just feel so bad for her. She just wants to lay on me and sleep all day. We have also had some scary heart rates while she has been awake with her being down in the 40’s and 50’s while awake and moving. We are use to seeing her in the 40's while sleep but I'm more comfortable if she is at least in the 60's while awake. So that’s no super great.
Thank you for all of the really nice and supportive comments and thank you so much for all of the prayers. We really appreciate all of them!! Thank you also for all of the help we have gotten and the dinners!!
This disease is so frustrating and especially seeing and hearing about so many that are struggling right now. Prayers would be so greatly appreciated for these little fighters.
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