In march we started the process of Luas DNA sequencing, where they look at Lua's dna and see if there were obvious mutations or an explanation of what happened to her in her dna to give a diagnosis. Today I received the results to the research and it came back negative. Nothing abnormal that they know of, showed up. So the geneticist said it could be a condition that we do not know about yet, a new mutation or something with the gene that they don't have the technology to understand at this time. In a couple of years we could have someone look at the results again or if we know of another place that may have more advances we could have them look at the results, but for now it will remain unknown. The Lua disease. She was just one of a kind. At her muscle autopsy they said she had an SMA like disease, she didn't have SMA at least not a type that they know the mutations of the genes for at this time. Maybe it is a mutation of SMA but it definitely wasn't the normal one. My results from my SMA test came back with me being an unlikely carrier so it is very unlikely she had it.
I guess the results dont surprise me, so many kiddos with arthrogryposis dont get a diagnosis, I was hoping for some answers and maybe in a few years we will find something out, but at this time we will have to deal with the unknown as always. The nice thing is we shouldn't have to worry about a baby with SMA, typically, because I'm not a carrier and both parents have to be to pass sma to a child. We will also be a little more prepared with the next baby as for watching movement of the baby and preparing to intubate if needed.
seems so terrible that something this bizarre had to happen to her and have to remain so unknown. I just can't help but wonder why.
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