Our Little Mutants

Mike and I make the cutest little mutants.  And being a mutant in our house is seen as a good thing -- all the X-Men and Spiderman are mutants and look how cool they are.

We've dated since high school, and who would ever have known that all that time, Mike had a misspelling on gene 95 of the RYR1 gene, and I had a misspelling on gene 65 of the RYR1 gene, and when put together we have a significant chance to have (cute) kids with a rare RYR1 muscle disease (uncommon enough that it has no name), with possible risk for malignant hyperthermia (a severe side effect to general anesthesia).  To our siblings: this means that you might have a  misspelling as well, so when you go to have surgery and there is a little box that asks if you or anyone in your family has had a severe reaction to anesthesia or malignant hyperthermia, make sure you check that box and highlight it.  

It's all in the genes, at least Mike looks good in his jeans. HA HA.

Think back to your 1010 biology and genetics.  RYR1 myopathy is inherited in an autosomal recessive manner, and therefore with every pregnancy, you draw a two-by-two table: there is a 50% chance that the child will be a carrier (like Mike and I), a 25% chance that the child will be neither a carrier nor affected (like Megan), and a 25% chance that the child will be affected (like Henry and Eli.)  It's the luck of the draw.

And I guess if you have to have a neuromuscular disease, this is one of the better ones.  It doesn't affect life span, it isn't degenerative (which was our biggest fear going through this), and major organs aren't affected.  There is a wide spectrum of severity of what the myopathy looks like.  With this particular disorder jumping, running, and climbing steps will likely always be hard for them to do.

We finally received the diagnoses of recessive RYR1 myopathy in May/July when Henry was 3 years old, and Eli was 6 months.  I didn't blog at the time we got the diagnosis because there was a lot to process, and just waiting to trying to get a diagnosis physically and emotionally took a lot out of us, especially discovering that Eli had it as well. I had feared he could have the same thing Henry did since he was around 4 months, but we had hoped he didn't.

We are so happy with how well Eli is developing. His case seems to not be as severe as Henry's, and he is starting to cruise around furniture, pull to stand, push a walker and use the parallel bars (yes we have a set of parallel bars).  Our house is like a little gym with all the exercise equipment and therapists that we have coming by on a regular basis.  We should set up a class at our house.  And yes, we still have Ms. Karen, Henry's physical therapist in our lives, who worked with him from birth to three, and now works with Eli once a week.  We love her.

Super power of Cuteness