The many updates on trying to diagnose Lua

Ok this is for all the people who have read our caring bridge and want to stay updated on where we are with diagnosing Lua's condition. To recap everything, Lua had many tests while she was in the hospital, she had all the common ones and obvious ones that looked for muscular dystrophy, SMA, myotonic dystrophy, and also a gene panel done on arthrogryposis. She also had MRI's and an EMG, every one of these tests came back negative, normal, or inconclusive. We did refuse the muscle biopsy at the time we were in the hospital because if they had ruled out SMA and the other severe diseases, we felt the need for her to keep every inch of muscle possible. But since she passed away we did request a muscle biopsy be completed. We received the results of the test along with her final cause of death on December 23rd (2014) [a wonderful way to celebrate the eve of Christmas eve..] The findings we were told that the cause of death was due to pneumonia, I had talked to the pathologist earlier and he described her lungs to have had some inflammation so they are considering it pneumonia along with her undiagnosed condition. For the muscle biopsy this is what I was told by our genetic counselor. (copied from caring bridge)
 
The muscle biopsy didn't give a diagnosis, and it didn't give them a lot of information because there was very little muscle to it, most of the biopsy was fatty tissue and underdeveloped muscle. What it looked like to the pathologist is that of what you would see in a baby with SMA (spinal muscular atrophy) [[[In the spine, there is a particular gene (SMN1) that produces a particular type of protein. That protein is essential to the healthy development of motor neurons, which people need in order to do many things: breathe, swallow, walk, run. In SMA patients, the SMN1 gene is defected and either doesn’t produce the necessary proteins at all or doesn’t produce enough of them. So the motor neurons are weak or die off, leaving the body’s muscles to atrophy without use.]]]] 

I wasn't 100% happy with this answer because she was found to be 98% negative for SMA, I know there is still the 2% which in long could maybe be a different type of SMA that she had giving her the 98% negative results. I understand she had very little to no muscle tone but I am surprised that they didn't have any other idea as to what disease she could have that would be similar to her symptoms, unless it truly is only SMA that could be possible. I decided to push the genetic counselor to do more testing if they have her DNA available, which they did. So we decided to look into how much it would be to do the gene sequencing and also to have me and my husband checked to see if we were carriers of any diseases that could be passed down to a baby. Well it would be over $8,000 to get the genetic sequencing done, with her not being alive of course insurance won't cover it and there is a charge to go through the hospital and yadda yadda... we also looked in to doing an SMA gene sequencing instead, but that also would be about $1700 and that is limiting us to SMA only which at that price is a waste in case she didn't have SMA at all. We were set up to do genetic counseling to go through our history, but then that got cancelled because it would be better to gather more information up from Lua's DNA, other wise it would be like trying to find a needle in a haystack using us. Although we can still go through and have blood work done to check for, I believe, 100 different types of the most common diseases found in babies, which is $100 for each of us but a lot cheaper than $8,000! We have yet to do this but working on it. Here is the good news! The genetic counselor came back and told me that they have money set aside to do researches on certain cases, she only had to get it approved but she believes they would be able to do the research on Lua's DNA for us and at no cost! Since it is a research! Last friday I received all our paper work to get everything started! It may take a long time since it is being done on research time and when there is time, but hopefully we will be able to find something out with this, and it would be free!! So this is great news and hopefully the ball will get rolling very soon here and I'm hoping it won't take longer than a year to get some answers!

So just a long update on where we are and the possibility that we may find out what happened to Lua. I think this would help me, at least, to be able to know what it was so I can stop wondering what it was that caused this. I wish I could have only been able to protect her from it.