4 kilos!!!

We hit the magic number that gets us one step closer to home! 4 kilos! 4022 grams as of last night! He is a growing boy! 8lbs 13oz! He is definitely getting big, I can hardly one hand him anymore! This week sometime he will get to be on his home ventilator and after a week, 5 to 7 days, he will be ready to go to the step down unit that prepares us for going home. Thiago and I both have one more trach change to do, one last class, learn his home equipment, and do a 24 hour session each where we stay with him and do everything. I think this is a huge amount to be by yourself all day, they want you to have nurses so I'm not sure why they are requiring 24 hours, but you can never be too prepared im sure. They also said they want us to take him on a small car ride, not sure how they don't expect us to just take off ;) but this is a great idea because we never practiced with lua and our drive home was a nightmare!! So I'm glad we can practice this before we go. It will be nice to be able to get him out and about and see how he does. He is getting really bored in his crib so getting him out of there will make him happy.

He has recently fallen in love with the mamaroo they have in his room. He spent few hours in it today off and on, and yesterday when may and thiago left, when may started crying, he started crying, so we put him back to bed but that made him even more mad, so back to the swing he went and then he was happy. This week we will also be practicing more with tummy time and having me figure out how to do it so I can keep up with it at home.

way back when we first got to the hospital they sent out a genetic screening to see if sol had the same changes in his plec gene that lua had, we have been waiting for those results. But I had a few questions about genetics floating around so last week I asked to talk with the genetic doctor. They met up with me today, but they were curious why I asked to see them, so on Friday they checked the results on the test and the results were in. I must have had my intuition radar working and could sense that.
The results. When we first sent the test out the genetic doctor said he wanted to disprove that the plec gene had anything to do with their condition because the only form of muscle problems they have seen with a mutation in plec is limb girdle muscular dystrophy which doesn't fit lua and sol at all. If sol didn't have one of the variants in the plec gene that would easily disprove the theory. Well the results show that Sol had the same changes Lua had. Because it is consistent with the findings from Lua, the genetic doc now strongly believes that the plec is what caused the condition but it is a new change they have never seen before. He has no proof that these plec variants are what caused the condition, so to get more proof they need to document lua and sol in a medical report and get it out there so they can find others with the same issue going on and look and see if plec is what was changed in them as well. He is certain others are out there but right now lua and sol will be the only ones actually documented with this condition. He isn't sure what they will call it either, but he feels it should be plectin congenital myopathy. At this time we have no clue what will be sols future, after he is 7 months everything will be totally new for everyone since this condition has never been seen by them yet. Basically though, it is how any other congenital myopathy goes so we can look to nemaline myopathy, Myotubular myopathy, well any congenital myopathy, to help deal with the condition. I'm a little bummed we have to be dealing with such a rare thing, we don't know what to expect for his future or anything, I'm really bummed because if there are only 2 babies that will be documented with this condition than a cure for this is going to be unlikely for many many years, until someone decides they are really interested in this plec gene and start trying different therapies... I just dont know when or how that will happen unless a lot of people start showing up with this condition and there becomes a demand for it.
I'm hoping some geneticist will get really interested in this plec gene and all the diseases it can cause and does a ton of research in it and can give us some answers, but until that day comes, I guess we will just wait and hope that Sol gets stronger each day.