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...
1 comment:
I'm so sorry for all the constant turmoil and unhelpful drs, I truly am. I really think you need to find the actual mito drs, becuase without a muscle biopsy they have NO idea if Quinn has a mitochondrial disease. We heard every excuse and "just deal with it 'excuse in the book- but once we had the biopsy done (with the ETC testing- that was the important part) everything changed. We have a firm diagnosis and now the drs KNOW they have to do something.
Everyone says good things about Dr. Koenig in Houston also- I know it's far, but you might think about sending her records there... my honest (non dr opinion) is that Quinn really does fit mito, and these drs are just not up-to-date enough on the research to know what they should be doing.
I'm sorry for yet another stumbling block in the road :(
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