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| Windart sculpture(made by my dad) |
Knowledge is power!! (ha- that's probably on some teacher's chalk board this morning!!)
People will ask what Clayton died from, and I'll say Myotubular Myopathy, and they look at me like i just spoke in another language / huh?
Myotubular Myopathy is a genetic disease. It was passed onto Clayton from me. I am a carrier (which i did not know until Clayton was born) Clayton's form of Myotubular Myopathy is a X-linked form, which is the inheritated form & the most severe. I am a girl, therefore i have 2 X's, 1 good x and 1 with the mutation for myotubular myopathy. Clayton unfortantly got the bad x from me, and his Y from Marcus. As as boy Clayton has an x from me & a Y from Marcus. The mutation on the x causes the muscles not to get the required protein needed for muscle developement and strength. Which resulted in poor body tone, poor core strength, poor breathing, poor swallowing and eating. our bodies requires a lot of muscle strength to just simply breath. Clayton didnt have the strength. Babies who are born with the X-linked kind, are very sick and typically dont live past the first year. They have severe breathing,eating, secreation issues, and infection is a devistating risk. We had prayed this wasnt the case for us & Clayton. But that wasn't the path God had intended.
How rare is Myotubular Myopathy? 1-n-50,000 births. 1-n-500 family trees are affected in the world. So its incrediably rare. There was never any family history of it for us, it was just something i had in my genes that I had no idea. Almost everyone has something on their genetics, that could potentially be life altering, we were just unfortante to find out about it with the birth of our first born. I remember a doctor at the U saying, we're all just Mutts, it just depends how the stars align when we are created. That's so true!! but it makes me realize all the more, how lucky people are to have 100% healthy babies. Be grateful!! Please!
So what does the fact that I'm a carrier of Myotubular Myopthay mean for our future children? Those of which i'm aching to have in my arms. Since I have 1 bad x & 1 good and Marcus has no marks on his chromosomes (you got it, he's"perfect") he'll even tell you that!!! :) So in the case of a boy- we could have a child just like Clayton again, getting one bad x from me, and marcus' Y. OR we could have a boy get my good X & marcus' Y=resulting in a healthy boy. In the cases of girls. We could have a girl get my good X & marcus' X, which she'd be 100% healthy too, or we could have a girl get my bad x and marcus' X, resulting in a carrier. The reason she would not have the simptoms and be sick like Clayton was, is becasue marcus' X which is healthy, would overweigh my bad x, resulting in normal protien function. She would be a carrier, but would be just like me "normal" (ha ha marcus would beg to differ about that!) So yes we have a chance to have more healthy children, but it's just not going to be easy. There is a long road ahead of us. There's PDG with IVF, theres CVS, & there's adoption. They are all equally scary. However the end result is to be a mommy & daddy, with a baby in our arms. This entire road has not been easy. It'll just be 1 foot in front of the other, and one moment at a time. We'll get there, I'm confident of that. I just pray for a little bit of a break this time.
I love the "This is your life" post-- but what I wanted to comment on today was about adoption. My niece adopted a little boy 4 years ago. As Rory was lying on the bed between us, we laughed about his cute little curled toe and commented on how he had the "Jungersen" toe ( a genetic curled toe on my side of the family). All of a sudden, we looked at each other and laughed....yes, he was adopted and couldn't have the genetic toe, but neither of us even thought about that because Rory filled her empty arms and once he was in her arms? he was hers...forever... So many ways to become a Mom... take some time to consider your options...the perfect one will appear!
ReplyDeletexoxo Jill