MNGIE Ruled Out...

For those that didn't know, Quinn was never "officially" diagnosed with MNGIE, it was just a probable diagnosis. She has a partial mutation of a gene called TYMP, this gene was found to be heterozygous, meaning that only 1/2 of her chromosome was mutated and the other half has proven to not be. therefore, she is a carrier, she does not have the other 1/2 mutation. The doctor tested her thymidine levels and they were found to be normal. Which means, Quinn's mutation is not disease-causing for MNGIE. Despite how certain the doc was that we found the answer, it is just not true. And we were completely discharged from the metabolic clinic. He told me to just treat the symptoms, take it day by day and she has had a very extensive look into diseases that might be causing her symptoms. he did say that MNGIE fits Quinn to a T. but unfortunatlely, we are unable to diagnose it. I asked her what she IS diagnosed with and he said that she fits a lot of the symptoms for mitochondrial disease, however she has no mutations in her bloodwork, so he just kinda beat around the bush saying that it's neither ruled in or out because it's still a new disease and anyone who has something wrong with them could potentially have something wrong with their mitochondria. From what I've read, Mito is best diagnosed through a muscle biopsy. These guys never mentioned it. I took the few 7 pages of records that they would give me and Quinn's lactic acid level have done nothing but climb (was 2.8 in 2006 (normal range 0.7 to 2.1 mmol/L) and in 2009 it read 3.2... pretty sure it was tested again and read 3.9, but i didn't get those results) she had a very slight amount of urine tiglylgycine and "essentially normal" pyruvic acid at 0.18 (normal range 0.08-0.16 mmol/L) "no real firm evidence of metabolic abnormality".

We had so many people come in and out of the room looking over her results and checking her out. Pseudo-obstruction was thrown around and weakness and all this crap. They all looked like they were just scratching their heads... obviously, my daughter is not healthy. She's ok, but she's not healthy. So, another door closed. We were told we do not have to come back. My friends and family still feel though that we should seek out This Dr. Boles guy out of CHLA. I just want to give up now. What's the point in finding out what's wrong with her anyway? Is that really going to change the course of her treatment? If it was anything curable, they would have found something by now. She's not in immediate distress, she doesn't live at the hospital. She's stable at home with me most of the time. That's all that really matters, isn't it?

anyway, Quinn's stomach is back on strike. So that means back on the tube feeds. Does ANYONE know a way that i can feed her, but not really feed her? She jsut loves loves loves to eat!!! I HATE taking that away from her. How can i feed her real ppl food without it actually going into her stomach? lol! it's not even possible...

One day at a time...

Good few days

Quinn's Grandparents flew in to see her the past few days. I must say, i was a little worried as it is very hard to take Quinn out a lot with her connected to the feeding tube and oxygen. Well, she has had a pretty decent few days!!! I mean, i'm actually impressed. She has even been digesting food fairly well with minimal bloat. So today, I decided to have her unhooked completely! off everything all day today and just give her some real food. She did exceptionally well. I let the gparents take her to a few places and a movie by themselves. If she was hooked up to everything, neither I or they would have felt comfortable. She had a good day. She ate real food and spent time off her oxygen. Tonight, she just has a stomach ache and a big belly from dinner, but nothing too serious. It was a good day to take her off her supplements. Though she is very stable with them, she is not UNSTABLE without them, if you know what I mean. In other words, she does do better on them in the long run, her problems are chronic, not acute therefore, the chances of her being able to come off the feeding tube and o2 indefinitely are slim to none at this point. But a day without will not harm her, i do not think. Especially in special circumstances, such as today. It's nice to let her be normal for a little bit.

She also had her swallow study yesterday. She did great! The lady said that she did penetrate on thin liquids, but that she did not see any aspiration. which is GREAT! She said she will have to look over it more thoroughly and in slow motion, but she thinks Quinn's swallow is safe. one thing that is noted is that she seems to swallow a lot of air. This could be in part due to her paraesophogeal hernia. She said that she will give the results to the doc and he will decide what needs to be done about it, if anything.

So, all is well in our neck of the woods. I love how spring is here and summer is coming. I like to spend all my days outdoors in the late spring and into late summer/early fall. So we will be keeping ourselves busy of course. I hope summer treats Quinn nicely.