I'm sure you're all holding your breath, so here at long last are our results.
The testing they did confirmed the diagnosis of Leigh's Disease, or as the metabolic Dr put it, a severe energy deficiency. Marie has a genetic mutation at 14459 (a location in her mitochondrial DNA). This affects Complex 1, a step in the process in the breakdown of glucose (food energy) to it's end product pure energy, or ATP. Complex 1 is one of the final steps in the cycle. This mutation is also present in nearly 100% of her cells in her blood. We knew there was no cure for Mitochondrial Disease, but this also means there are very few treatments.
We will begin giving her riboflavin again, the vitamin in large doses may help her cell function. We will also begin giving CoQ10 (I think it's an enzyme) that also may help to improve cell function. Neither of these will "cure" her, they just may help to slow the progression. We also will continue physical therapy, and we will begin monitoring her organs namely the brain, eyes, heart, liver and kidneys. These organs use the largest amount of energy and therefore as the disease progresses they are the most likely be affected. They can't say which will be affected or when, but through monitoring we'll have an idea and be better able to treat that as it comes up.
Basically, all we can do is make every day for Marie as wonderful as we can, and to enjoy our time with her as much as possible. The Dr's can't really say how long she has, only time will tell.
The major concern at the moment is her vomiting. She's lost a lot of weight, currently weighing in at 15lbs 9 oz, down from 16lbs 2 months ago. We have an "urgent referral" to meet with a gastroenterologist to determine what we can do to possibly curb the vomiting, and what we may need to do to help her gain weight again. The metabolic Dr's basically said Marie is suffering from a "failure to thrive".
So, sadly, I have no good news to post. We've explained to Josie what we can. She knows Marie's body is different and she may never do the things Josie can (crawl, walk) etc. She knows that God will probably call Marie home early.
Luke and I are doing okay. We broke down last night after the girls were asleep. It's really going to be day-to-day. Thank you all so much for the words of support and the thoughts and prayers that I know have been with us. We have needed that, and will continue to need that support so much. I know that Luke and I have been blessed with a very special child... We're still having a hard time talking about all of this. It was hard to type.
We will have to proceed with caution, we have to try to keep Marie from getting sick. It may set her back, and she most likely won't regain afterwards. The worry is that if she gets ill she doesn't have the energy to fight it so it will last longer and be worse for her. She may loose developmental skills that she's achieved. We're praying that she doesn't loose any cognitive abilities.
Once again, we'll need those who are sick to refrain from visiting, you'll have to wash your hands before you can hold her. Otherwise, please come and visit often! She's so special to us, but I know that she means so much to all of you as well.
I've got to run now... we're trying to be as "normal" as we can for Josie... thank you all for everything. Much love- Shan