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May 30th, 2007, 06:31 PM
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glasscandie glasscandie is offline
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My name's Courtney, and I'm married to Dmitry. We have one daughter, a 20 month old named Julia. Julia was born with Netherton's Syndrome, which is a pretty rare type of ichthyosis, which is genetic. I think the incidence for her syndrome is about 1 in 500,000. Ichthyosis is a term for a variety of different skin disorders, Netherton's (NS) being one of them. The way it works is, the parents have to each have a recessive NS gene (which is pretty abnormal in the first place), and then those two genes have to join together when a baby is conceived (it's about a 25% chance).

Anyway, the symptoms of NS are:
-brittle hair because of a shaft defect...often women with NS wear wigs. DD's hair actually seems to be growing, so we'll see how that goes.

-failure to thrive...DD was *severely* FTT when she was under a year old. She's been off and on supplementally NG tube fed since she was 8 months old, and is just now catching up to the growth chart for where she should be at. There's a variety of reasons for this with NS.

-eczema-like spots...that's primarily what DD has now, and really only on her scalp and shins.

-a general "red" skin tone...that's very true, it always looks like she's gotten a little too much sun!

-peeling...as odd as it sounds, the entire top layer of DD's skin would peel off, much like a sunburn, when she was really little. Now it doesn't really do that.

Julia definately has a mild case. I've met with a few older people with NS at a conference last summer, and they all said that her skin looked amazing; our new dermatologist literally didn't believe me when I told him she had NS. So that's good news, in any case.
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