Post by raisangrrl on Oct 13, 2006 14:16:14 GMT -5
Most of you know who I am (HELLO!), and most of you are wondering who I am (in that case HELLO! to you as well).
I have been on and off a part of Toriforum for awhile. I deleted my account once, because I didn't have the time (it lasted about a week, lol) to post here as much as I'd like to.
My update today is for everyone that has been there with my family and I as was pregnant with my son, Kevin. And who continue to be a part of our lives, and be a rock for me in many ways.
In a few hours this morning, we had been given a diagnoses to Kevin's Mitochondrial Disorder.
I don't know how to feel about it. Ive been crying alot, since I was hoping to not hear that it was this particualr diagnoses.
Kevin has Pompe's Disease.
His seems to be a nontraditonal expression of the disease. Which basically means that he's not showing the normal symptoms for it. He's progressing, where as in traditional expression woul dmean he was deteriorating. He has the infantile onset. Which in most cases is fatal by age 2.
As soon as we have another confirmed test, he will be starting enzyme replacement therapy. I don't know much about it. What I do know, is that there has shown to be significant hope that this can, and will be, the best treatment for the disease. It's only in clinical studies that you can recieve this, and we will be heading to Boston, MA as soon as we can get there.
I don't know what this will mean. I don't know what it will do to him, or how he will react to it. I'm hopeful that it will give us a silver lining. I don't know for how long, or even when yet.
As you can imagine, this will take up more of our time, and I will still not be aorund as much as I would like to be.
If you have me added to your LJ, any updates I have, you can post them here if it seems that there isn't a way for me to get here. I will do my best to keep everyone updated as we start down this path.
Thank you all for being my rock.
*hugs*
I have been on and off a part of Toriforum for awhile. I deleted my account once, because I didn't have the time (it lasted about a week, lol) to post here as much as I'd like to.
My update today is for everyone that has been there with my family and I as was pregnant with my son, Kevin. And who continue to be a part of our lives, and be a rock for me in many ways.
In a few hours this morning, we had been given a diagnoses to Kevin's Mitochondrial Disorder.
I don't know how to feel about it. Ive been crying alot, since I was hoping to not hear that it was this particualr diagnoses.
Kevin has Pompe's Disease.
His seems to be a nontraditonal expression of the disease. Which basically means that he's not showing the normal symptoms for it. He's progressing, where as in traditional expression woul dmean he was deteriorating. He has the infantile onset. Which in most cases is fatal by age 2.
As soon as we have another confirmed test, he will be starting enzyme replacement therapy. I don't know much about it. What I do know, is that there has shown to be significant hope that this can, and will be, the best treatment for the disease. It's only in clinical studies that you can recieve this, and we will be heading to Boston, MA as soon as we can get there.
I don't know what this will mean. I don't know what it will do to him, or how he will react to it. I'm hopeful that it will give us a silver lining. I don't know for how long, or even when yet.
As you can imagine, this will take up more of our time, and I will still not be aorund as much as I would like to be.
If you have me added to your LJ, any updates I have, you can post them here if it seems that there isn't a way for me to get here. I will do my best to keep everyone updated as we start down this path.
Thank you all for being my rock.
*hugs*
And that makes me HAPPY. lol.
