Thursday, April 7, 2011

Tay Sach’s Disease: Quest for a Cure.

For such a small droid R2 has such a large heart. Kind of like Bruce Wayne in Batman people think he’s just loves to party and go to conventions. Like so many other droids he brings hope to those in need.

So last Friday, April 1st, Todd got a flier about a Spaghetti Dinner fundraiser for Kaleb’s Cure and offered to bring R2. I’d like to thank Fountain Automall for sharing the flyer to it’s employees as Tom Kaleb ‘s grandfather works for them. So if your in the Orlando/Winter Garden Florida area please come by. For more info you can visit them on Facebook or the site about The Ogden Family.

Let me forewarn you that you really need a box of tissues next to you when you start reading about this disease. My heart goes out to Kaleb and The Ogden family.

Some refer to Tay-Sachs as a Jewish disease and as such I’ve heard of the disease but never really knew anything about it. I grew up always thinking that only descendants of Ashkenazi Jews are at risk but I was wrong. Granted it’s a rare disease and only about 16 case are diagnosed a year in the US but you’d be surprised. Granted the highest risk group is Ashkenazi Jews, French Canadians and Louisiana Cajuns. But 1 in 250 from the general population carry the gene. That is kind of frightening.

Well, now that I have your attention, what is the disease? It’s a rare genetic Lipid storage disorder. So what does that mean? Well, Fatty waste products build up in the brain cells causing them to swell and die. Sadly symptoms do not start to show till about 6-7months old. There is no cure for it. It is always fatal and sadly children diagnosed with the disease rarely live to see their 4th birthday. Sadly because it is a genetic disease associated with a particular ethnic background it gets misdiagnosed. There are tests that can be done to find out if you are a carrier as well as prenatal tests for the fetus.

Just remember even if you are diagnosed as a carrier doesn’t mean you can’t have children. Even if both parents are carriers there is only a 25% chance of the child getting Tay-Sachs.

Much isn’t known about the disease and there appears to be other variations of the disease. So I do hope that we see you Saturday at 271 West Plant St in Winter Garden but, even if you are unable to go there are many other ways you can help even if it is not much. If you use Facebook you can watch videos where watching the video earns money for the cause. You can also donate via paypal to help with Kaleb’s medical epenses or donating at one of the charities listed there

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