Reason but no solution

Our trip to Riley yesterday was to see the Genetic counselor, get results, and talk about our options. We already knew that they are pretty sure she has a mitochondrial disorder. In order to (hopefully) confirm this they are going to do a muscle biopsy of her thigh muscle within the next month. They will also take a skin sample at that time too. There is still a 20% chance that she has a disorder of the Factor V (five) gene and that can't be caught on a muscle biopsy because science isn't smart enough to catch disorders of that gene yet.
Even though they will be able to tell us if she has a mito disorder they still will not be able to tell us what to expect in her future. An example of that would be that now we know WHY she doesn't gain weight but they can't MAKE her gain. Since mitochondria is in the cells of the muscle that make energy then the organs that are made up of muscles are the most affected: brain, esphogus (sp?), stomach, heart, liver, vision and hearing. Bright side right now is that she is not severely affected but she's only 2 and they can't say what will happen as she gets older. There are kids that are less affected and there are kids who are more affected, only time will tell. There are supplements they can give her to "help" but they may or may not help and there is no cure. As of now they can't even put her into a catagory of disorders b/c science isn't that smart yet. They can say some kids have done this or that but some haven't. It's a watch and see game. They also said they can't tell us what her LIFE EXPECTANCY is. Scotty and I both about fell out of our chairs when she said that! When we started this whole journey she got her Gtube just to "gain weight" and once she stopped aspirating and put on some weight she would be healthier and would get her G tube out and go on to live a normal life. But that was a little over a year ago and now they said LIFE EXPECTANCY!? Totally caught us off guard. Not only do they not expect her to get off the feeding tube but now her whole life could change and it's just something we have to "watch".
The Genetic counselor that we saw was great and knew lots about the disorder on a medical and personal level. The reason she took the job she has (counseling families with Mito) is that she has very close friends who have a daughter with a Mito disorder. She is very similar to Aly. She was diagnosed at 2 and now she is 8. This was to be the first year that she had been cleared to go to school during the winter months. Then of course her school had an outbreak of H1N1 so she is back out of school. They stay in thier house the majority of the winter and go to Florida (where it is warm) for Spring Break every year to celebrate the end of winter and that Abby can now come out of her house. They do have friends over but if they have any hint of illness they all know to stay away. Abby does not go to children's church, playgrounds, or anywhere there could be exposure to germs. Especially, in the fall/winter/spring months. Abby is small but only got her G tube within the last couple years b/c it helps keep her hydrated since she was constantly getting dehydrated from being sick. She has gained a little weight since the tube was placed but she is still very small for her age. Hearing about this 8 year old girl and her journey over the past 6 years really put into perspective of what our life is going to be like. Her parents made a decision to care for thier daughter the best way they know how but to live as much of a normal life as possible. That will be a challenge for us to figure out the balance between the two.
As of now the only delay Aly has is speech articulation and growth. Her hearing is borderline normal and they say this could be why we are having so much trouble potty training, b/c the bladder is a muscle and she may not be able to control it. As to what will happen over the next few years and once she starts school we don't know. Most kids are in regular school (when they are healthy) but may need help in certain areas. They can't test her IQ at her age. They will monitor her eyes, ears, heart, liver, etc for any problems that may arise. This is also the reason she is so sick. Kids with Mito disorders don't have the immunity of regular kids. Their immune systems are weak which in turn causes them to get sick very easily and not get well as quickly as regular kids.
There is so much more to this disorder that I don't even know yet. The bottom line is what we have been saying for a year now "Normal for Aly is not normal for everyone". She has her own version of "normal".