Thursday, August 28, 2008

MPS 111

I've been following a blog about a family with two young children, both of whom were diagnosed last spring with San Filippo Syndrome. It is a fatal genetic disorder, described as follows:

Children with Sanfilippo are missing an essential enzyme that breaks down a complex body sugar called heparin sulfate. This sugar slowly builds in the brain, stopping normal development and causing hyperactivity, sleep disorders, loss of speech, dementia and typically death before adulthood. There is no cure, yet.

I don't want this blog to be a downer, so I hesitate to reveal these stories, but this particular family is watching their children deteriorate before their very eyes. Their daughter, particularly, is changing fast. Everyday it seems, she loses abilities she once had, such as the ability to feed herself, or hold a crayon. I can think of few things more heartbreaking than watching death slowly happen.
I honestly feel we have some responsibility to try to share the pain of these families. Nobody should have to endure excruciating pain alone. Relying on immediate family isn't enough, because often the immediate family is just as tapped out emotionally. If you can, visit their blog, and put in a word or two. You might have just the words they most need to hear, at just the right time. I am sorry to send bad news, but I feel their need is great.

Exploring Holland

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