We are starting to have a really solid understanding as to what Sols (and Lua's) genetic condition is/was, which is great because we know better how to treat it. There are still a lot of unknowns, technically speaking, Sol, well technically technically Lua, is the first to be seen with this type of mutation creating this type of condition. Lucky Us! Other kids that have been seen with similar mutations in this gene have a much less severe type of the condition, meaning, many of these kids have gone on to walk, didn't require a trach, had more movement, but still they believe what we saw in our kids is the same thing that has happened it just happened to be worse, probably simply because of how the specific mutation in each of mine and my husbands genes came together.
Yes, it is annoying and unfair and crappy... but as one person has put it, we are the best at making the worst condition, hahaha so true!
Anyway, to not distract from above... Now his condition has been labeled at limb girdle muscular dystrophy 2q, genetics, neurology, they both disagree with this diagnosis because he is showing improvements. I keep getting bothered by people calling it a dystrophy just because that means they (doctors) will consider him as declining, and if the wrong doctor at the wrong time gets their hands on him and believe he is only going to get worse instead of better, that could cause problems in his care. I talked with his neurologist about my reasoning and she completely agreed. We talked about how he has been the last year and all his improvements, and to her, she has no reason to expect him to decline, at this point. She is really excited to see his development and what he will end up doing, so she decided to take the limb girdle diagnosis off of his chart and give him his correct condition name on all his charts. I just loved what she wrote up for our after summary report
To any random person, this may not seem like anything special to read, but the fact that she puts, "he will continue to gain milestones over time..." Wow, that just gets me! I think back to when I was pregnant with him and how he was going to be impossible to intubate, and possibly pass away at birth, now here we are at the point of expecting him to only continue to do well. It just seems so amazing.
Before we left the clinic, our neurologist came back and wanted to talk with us. She already found two doctors in different countries, that are working on getting trials for the plec gene! This means, maybe some day, there is a possible gene therapy that could fix his plectin gene and fix the skeletal muscle that is broken. I now have two contacts that I can reach out to and even if they don't get trials out for years, they may be able to give us even more information on the plec gene and anything else we may be able to try to help strengthen him. It was just so amazing that this possible opportunity has opened up. Last year, the same neuro doctor told us she would see it being impossible that anyone would ever work on the plectin gene because it is so rare, she did go on to admit she said the same thing about SMA(Spinal muscular atrophy) and now there is a drug to treat that. With in a year we went from nothing being possible for years to come, to this year where he is expected to continue to reach milestones (sol milestones) and a possible gene therapy in the future.
Everything else from that clinic, could not top what we talked about with the neurology doctor. No way no how. Most of the things we talked about I can't even remember because I'm still on a high from all the good news we got from neurology. Besides all the news about his diagnosis, which let me shout out about how amazing our neuro doctor is - she really has put in the work for us to figure out this diagnosis and it is doctors like this that we need on our team, she's amazing! I also asked her the million dollar question (that everyone asks)
is it possible for him to get the trach out...?
Before I give her answer, I find it important to point out that at this point we do Not want the trach out. Yes it is annoying to have a suction machine, yes people get bothered by watching us suction him, but right now it is life saving. It helps us prevent from getting pneumonia all the time, and helps us to stay out from being admitted to the hospital every other week, so right now, No we do not want the trach out no matter how annoying it may seem to be.
She answered with, it definitely isnt off the table. He will show us what he can do, and with how far he has come with the speaking valve, she cant say that he will have it forever. So looking forward maybe some day he wont need the trach, but if he does, he does. I just really like hearing someone say maybe some day it wont be necessary, that is enough to hear.
So besides all of that, all the doctors are really thrilled with his progress, they seem him as getting stronger, smarter, and we heard many times during the day how excited they were to see what he will be doing next. His communication therapist thinks he will be a computer programmer when he grows up (since when we had his eye gaze computer he kept changing the settings on me) But that is the first time I heard anyone talk about his future that far out!
There has been so much to take in after that appointment and I wish all his doctor appointments would go as good as that one! We had a cranial facial clinic a week before this that was really not as nice as this one was. It has been a long journey, and I know it doesn't stop here with all these good reports, there will be hard times because that's life and right now we need to make sure he has exceptional pulmonary team because his current pulmonary doctor that has gotten us this far, just retired. If we don't get good support from them, that will make it hard for Sol to continue to improve. Therefore I am being cautiously optimistic and making sure we are getting the best care pulmonary wise, other wise we will have to be in search of a pulmonary doctor that will support him the way he needs to be supported. Lots of stuff floating around in my head all the time, but it feels great to remember over and over how excited most of the doctors are about him. Sure makes my heart feel good!
In just a couple of weeks we will be celebrating Sols second birthday, with a birthday party to build a bear with a couple of kiddos. I'm crossing my fingers that no one gets sick before this and we can all be healthy and rested for Sol to be able to really enjoy his day. I'm hoping for a very fun day for him because he truly deserves it. He has worked so very hard these last two years, I am so thankful that he has too <3
