Sunday, January 11, 2009

Quick Update

Just a quick update to let everyone know that Mary is doing better. She still hasn't passed any kidney stones, but at least the puking has stopped. She needs to drink more water and I've having to stay on her about that.

Another bit of interesting news, I received an email from Jack's neurologist on Friday letting me know that the first two genes they tested to sort out Jack both came back normal. The plan now is to test two other genes. It was also the first time I've heard the name for the specific type of congenital muscular dystrophy Jack has -- it's called "Dystroglycanopathy congenital muscular dystrophy" and apparently within the Dystroglycanopathy family, there is a wide variation in how a person is affected. I gave up a long time ago caring if we ever found the exact type (genetically) of muscular dystrophy Jack has. The first couple years of Jack's life, I researched everything I could get my hands on trying to find an answer for Jack that I could live with. Once I accepted that Jack did in fact have some form of muscular dystrophy (denial no longer being an option given Jack's physical limitations and ventilator dependency), as far as I was concerned finding an answer no longer mattered because there is no cure. However, Jack's neurologist gave me the link to a new website called Cure CMD and, while I don't imagine a cure for Jack during his lifetime, it is encouraging to see that there is a real interest in finding a cure for congenital muscular dystrophies.

I'll leave you with a picture from Eric's visit to the Zoo last week.

3 comments:

Julie W said...

Glad Mary is doing better - hope she passes those stones quickly. Intersting that someone is trying to find a cure for CMD, maybe one day we will be able to cure all ills, but it will take time, I'm sure.
Love the Eric photo - I particularly dig his shades!

((((HUGS))))

Rachel Marini said...

Never a dull moment in your life Ann :) As always, thank you for sharing and letting us peek into your life. Hope you get the answers you'd want about Jack.
Sending love,
Rachel

Melisande said...

Cool, Ann!