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Friday, May 11, 2012

Usher Syndrome Type 1C

As most of you know who have been following the blog, we had genetic testing done on April 4th for the Acadian/French strand of Usher Syndrome. They told us it would take about a month to get the results, and although I had been itching to call them for the results, I knew they would contact me when they got them so I let it be.

Long story short, after multiple games of phone tag, I begged for the results over the phone, and they agreed to tell me. They had asked us to set up an appointment to meet with them at the Lafayette Health Clinic on Monday to tell us, but we didn't want to wait over the weekend.

He said that he hated to tell me this over the phone, but that the results were positive for Usher 1c. Here is a link for more information on Usher Syndrom, because it's very rare :( The vision loss portion of Usher Syndrome is called retinitis pigmentosa (RP). And here is a link to what that's all about.

I left work while he and I were still on the phone and proceeded to the sitter's house because I just wanted to be with Hunter. After calling Blair and my mom, I called a doctor in Boston who does the Vitamin A treatments. I wanted to know if there was anything we could do now. I said I had a plan, and this was the first step. After a long conversation with the medical assistant, and many many words that I didn't understand, she told me that the pediatric opthamologist/retinal specialist there would probably want to perform an ERG on Hunter. Here's a link to that! They aren't set up in their office to do it just yet, but they are hoping by the end of the summer they will be all set up. We can go there and get the ERG and get Hunter in the system. I know I have a LOT to learn, and a lot of things to research.  But this doctor was referred to me by an incredible mother to two girls with Usher Syndrome.

I think by the time I got home, I had finished all of my crying. I have a wonderfully happy baby boy. A healthy and growing and expressive baby boy. Not to mention I have a husband sent by angels. Hunter wasn't diagnosed with cancer, and we will all live through this. It will bring us closer and make us stronger. Part of me feels like maybe I'm in denial, but then again, I also think it's a sad situation that you would never wish upon your child or anyone elses for that matter, but we have to move forward. We will not let it define our lives, and hopefully one day we will give it a new definition. One with a cure. Because research has come a very long way where RP is concerned, and we've got a while before it will really start to affect Hunter. 

Happy Mother's Day to all of my mom friends out there reading this. Hug those babies of yours, and never take anything for granted!

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