I finally have some news that I haven't shared on Sols page or facebook yet! I thought I would say it first here, mostly because it could get too long for a facebook thing and also maybe not a thing I want everyone to know exactly right now. But my 2 dedicated fans that keep reading this blog, I can share with you. Haha. It is a little ironic because I was just listening to this Queen song, Keep yourself alive, and I felt it was kind of fitting for what I had to share.
Ok, I think almost a year ago, genetics ran some tests that looked for congenital myopathies. At this point we have done a whole exome sequence on Lua, they felt doing one for Sol would give no additional information so lets not waste it at this time. They have done an arthrogryposis genetics panel, neuromuscular panel, uhm and some other very typical obvious panels like the newborn screening tests and such and they have found some gene changes, that is when they strongly believed he had a plectin mutation, but after looking into it more they found the location of the change was in an intron and not an extron so therefore it could not be what caused his condition. I mostly write this stuff to remind myself as well because my memory is bad. Anyway, this last panel they ran they found a change in the Titin gene, which is super interesting because titin is the largest protein gene in our body so it would make sense that this could have caused his skeletal muscle mishap. Unfortunately the location of this change in this gene was more for dilated cardiomyopathy which sol does not have at this time but it did remind me that my mom has a type of cardiomyopathy. When genetics found out it was actually dilated cardiomyopathy they decided to run her genes and see if she has the same change that Sol has. Monday we got those results and she in fact does have the same change that sol has. Goody goody... Which means I have this gene because he had to get it from that line of genetics somewhere right.
Now what that means is I have a 50% chance of developing dilated cardiomyopathy and so does Sol, May will now be tested to see if she has the gene change as well or not. The option is to either get the change as a carrier or get it as the condition, because my mom actually has the condition that is why these are the options. My sister kind of explained it well, so we (me and my siblings) had 50% chance of getting the gene (one from mom one from dad) and now another 50% chance of either developing the condition or just carrying it around giving it to our kids so they can give it to theirs and so on and so forth. It is a little bumming. I suppose we always knew we were at risk of getting the condition, but for some time we thought my mom developed this from a virus. Which is still possible, because she had all those crazy sicknesses that we immunize for now, one of those fevers could have triggered this issue with her heart. But either way, now we wait to see if I develop symptoms and wait to see if sol will as well. Sol has always been at risk for this condition so he is already having all the care he would get already once they found this out, so we are ahead of the game at this time but long term we just don't know what this will cause. My mom didn't develop this until her 40s so hopefully by the time Sol is in his 40s they will have worked out a gene therapy to fix this gene or something, you just never know. Hopefully that could be figured out before I get in my 40s, ha, that would be nice.
Well anyway, that is where we are for our newest news... Oh but they also said they do not believe that this gene caused sol to have the condition he does have. It just isnt something that they have seen this change in this gene do and he would have needed 2 changes in the gene to cause his condition so he remains undiagnosed, for what seems like will just be forever the case.
