Hello friends, I realize what I'm about to write will not make absolute sense. But, it's the best way to try and tell you what I learned today. Some of you may remember that Lucy had testing done with me in the fall. I was told the results for her were promising and that she showed inactivation of some the duplication and triplication she has. Well, today I found out that was not correct. Instead she actually has 100 percent of those cells activated on the duplication and triplication. She didn't inactivate it at all, at least in the white blood cells where they tested. The assistant had told me wrong, she didn't know of course. It's a very extensive test that is hard to be able to tell what is going on. Most people who have a duplication have some of the duplication inactivated if they are a girl. Lucy didn't have any! They said that was very rare to have happen. I asked the Geneticist about one the chromosomes she tripled. I wanted to know about the MECP2 gene. He said yes, that is in there. Also known as Rhett Syndrome in girls... Boys who have this have a very bleak life expectancy. And rarely do girls get this since they can shut off the MECP2 gene. This gene mostly shows up in boys. They want to do more tests on her in the future. In some cases some of the bad cells can die off when the child gets older. It's less likely to happen but our Geneticist said it is a possibility. Nobody has the chromosome disorder she has that we know of, but she does the MECP2 gene in there which some children have. I've looked it up before, but it's not a fun read.
Right now I'm just like really?? Not what I was expecting at the yearly check up at the Geneticist. I feel pretty numb, and just not knowing what to think. I'm not having a nervous break down, I'm just at a loss of what to think. Lucy truly is a mystery, and nobody knows what her future holds. We will just hold on for the ride. Just not the news I was expecting today...
More testing will be done in the future, very complicated testing that is fascinating to learn about. For now, it won't be covered for us to get done. So, we will wait and ask again in the future.
If I could offer a word of advice to those that don't understand what I'm going through this would be it. Always be grateful for your healthy children, don't ever take them for granted. Even when you get upset at them for being stinkers, always be grateful. It's a hard world out there folks, don't EVER take them for granted. You have no idea how scary it is. Hug your children and tell them you love them everyday.
Unique friends I love you, and I consider you sisters... I have your back and you have mine. We will fight on together as we go through our journey.
I'm going to leave this with you, I love this song more than I could ever say. I sing it all the time/cry But, I know the lyrics are true. I always think of Lucy whenever I hear it. Here are a few lyrics from the song.
I'm through accepting limitsCause someone says they're soSomethings I cannot change but 'tillI Try I'll never know..I know it sounds truly crazyAnd true the visions hazy
But I swear SOMEDAY I'll be,, FLYING SO HIGH..
I'm DEFYING GRAVITYAnd you won't bring me down
Defying Gravity (Wicked)
Right now I'm just like really?? Not what I was expecting at the yearly check up at the Geneticist. I feel pretty numb, and just not knowing what to think. I'm not having a nervous break down, I'm just at a loss of what to think. Lucy truly is a mystery, and nobody knows what her future holds. We will just hold on for the ride. Just not the news I was expecting today...
More testing will be done in the future, very complicated testing that is fascinating to learn about. For now, it won't be covered for us to get done. So, we will wait and ask again in the future.
If I could offer a word of advice to those that don't understand what I'm going through this would be it. Always be grateful for your healthy children, don't ever take them for granted. Even when you get upset at them for being stinkers, always be grateful. It's a hard world out there folks, don't EVER take them for granted. You have no idea how scary it is. Hug your children and tell them you love them everyday.
Unique friends I love you, and I consider you sisters... I have your back and you have mine. We will fight on together as we go through our journey.
I'm going to leave this with you, I love this song more than I could ever say. I sing it all the time/cry But, I know the lyrics are true. I always think of Lucy whenever I hear it. Here are a few lyrics from the song.
I'm through accepting limitsCause someone says they're soSomethings I cannot change but 'tillI Try I'll never know..I know it sounds truly crazyAnd true the visions hazy
But I swear SOMEDAY I'll be,, FLYING SO HIGH..
I'm DEFYING GRAVITYAnd you won't bring me down
Defying Gravity (Wicked)
