trach day

little Mr. is back in the operating room now getting his trach, gtube, and nissen done. A nissen is where they take part of the stomach and wrap it around the esophagus to help stop the chances of reflux, spitting up, and resulting in less chances of aspiration. With his fragile airway, aspiration is not a good thing for him so we decided we should go ahead if this will give him the best chances. He already has the trach in and we are now waiting for the gtube surgery to be done.
After he went down genetics came by to talk about his findings and what he thinks is going on. I'll do my best to summarize and make sense at the same time, but it is a lot of confusing stuff so I dont know if ill be able to explain it well enough or not.
When lua passed I worked with a genetic counselor to get a exome sequencing test done of Lua's DNA in hopes of finding the diagnosis. She also had a muscle biopsy done after she passed to see if we could find a diagnosis. After these things I was told the muscle biopsy showed an SMA like disease... Nooo clue what that meant. And the exome showed originally nothing but then at 20 weeks pregnant with sol they said they found this variant in the plec gene. They felt this was responsible for what happened to lua even though I disagreed. They told me then that this is all they have and will go with it until medicine catches up with our very special kiddos and proves other wise. After Sol was born, it did not take long for everyone to agree that this is not what happened to them, this plec gene is most likely not responsible. Reason being is because there are no cases like ours this severe to support it, and the diseases that come from this plec gene are mostly diseases that affect the skin. Although it can't be 100% ruled out that the plec gene is or isn't responsible, the geneticist is going to try to disprove that it is the cause by testing Sol and if he doesn't have both changes like lua then we can assume the plec gene is not what caused this.
Where that leaves us for a diagnosis is, kind of complicated... The geneticist believes what happened is the skeletal muscle didn't form. When he looked at the muscle biopsy from Lua, that is what they found was no skeletal muscle present, not to say there was none because muscle breaks down fast after one passes away but the findings are consistent with how our babies look. They do have very little skeletal muscle throughout their bodies which is why the lack of movement. When this happens it is considered a myopathy, and since it happened at birth it is congenital so his diagnosis is in a broad term considered congenital myopathy, but we dont know what type because we dont know what gene has been effected. The test we did with lua checks for the 5,000 different genes we (geneticist's, scientists.. What not) know about. We have 20,000 different genes... So whatever happened to whatever gene is not known yet, we dont even know the name of the gene! Nothing, nada, zero info on whatever gene got mutated and did its thing. We know it is most likely recessive, me and thiago each carry one change or mutation in that gene, and we have 25% chance that each child could have this condition, the geneticist said to keep in mind because we had one girl and one boy with it we could basically assume we have a 50% chance of it happening, he doesn't believe the gene is dominant, well it shouldn't be because one of us would need to have the condition, which obviously we don't, but it could still be that high of chance. We also could always just have bad luck too, some people can have 6 out of 9 kids with the same condition, it just depends on how lucky you get i suppose.
With a myopathy, the muscle was formed wrong, possibly a genetic condition where blood flow doesn't flow well and doesn't supply the muscle with the right nutrients to grow, this is unlikely but possible, or the muscle fibers just didn't grow correctly because they didn't. They don't continue to break down, so we have the possibility of him growing stronger and strengthening the little muscle he does have rather than him losing muscle mass. I couldn't even imagine him losing anything when he has practically none to lose. This is a good thing though, and it stands to reason if Lua could have gotten over that sickness she wouldn't have passed away from her condition, she passed away because being sick and already weaker makes you much more weak. If we would have had the right tools and doctors with her, most likely we wouldn't have lost her... That is something hard to deal with, we made too many mistakes with her and lost her because of it. Because of the mistakes we learned from, Sol has much better doctors and the right tools to help give him the best quality of life, this I truly believe. I'm hoping we don't make any more mistakes.
The biggest problem with having no true diagnosis, we have nothing to look for to help with a cure. Or say we want to have another kid, we dont and won't, we could have gone the route of checking the embryos before implanting to see if they have the same condition or not so we could have a much better chance at having a child that doesn't have the condition, but we can't do that now because we have no gene to identify as the problem. It is possible in a few years we will know what this condition came from, when medicine catches up with our kiddos, but until then we work with what we have.
An interesting thing with Sol, though, is I didn't have excess water while i was pregnant, which means he was swallowing.. He hasn't been doing great with swallow with his breathing tube in, so I'm not sure if the breathing tube has been inhibiting that or if he became to weak to do it, but with the trach now we will see what he can do.

Sol went down to OR at around 12... I Just got news from the nurse he is doing well and should be coming back up pretty soon here. I am anxious to see his little face!!