[glasscandie]

Hi everyone. My name's Courtney and my husband and I just had a beautiful daughter we named Julia almost two months ago.

We just found out the other day that there's a very high possibility that she has Netherton's syndrome, which is an incredibly rare genetic disorder, and one of the forms of ichthyosis. If she has it, she'll have really short, brittle hair, and red peely skin (well, she's already got the red peely skin). Kids with Netherton's have a normal lifespan and all that, and really the only way they're effected by it is socially (it's pretty obvious that there's something "wrong", and I use "wrong" loosely, with them).

Anyway, just wanted to introduce myself. I'm going to busy myself with reading all the posts now

[LuckyGirlx4]

Originally posted by CShellAK@Nov 11 2005, 06:17 PM
Hi everyone.* My name's Courtney and my husband and I just had a beautiful daughter we named Julia almost two months ago.

We just found out the other day that there's a very high possibility that she has Netherton's syndrome, which is an incredibly rare genetic disorder, and one of the forms of ichthyosis.* If she has it, she'll have really short, brittle hair, and red peely skin (well, she's already got the red peely skin).* Kids with Netherton's have a normal lifespan and all that, and really the only way they're effected by it is socially (it's pretty obvious that there's something "wrong", and I use "wrong" loosely, with them).

Anyway, just wanted to introduce myself.* I'm going to busy myself with reading all the posts now*
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Hi Courtney & welcome to our board! Julia looks so cute all curled up in there . I don't know much about Netherton's syndrome, but we are here to support you with anything you need. Has Julia had a hard time gaining weight so far?
I'm Krista, btw, lol. My Anika is 3 and has mild low-tone Cerebral Palsy, Tracheal/Laryngealmalacia (low tone in her vocal cords and trachea), severe GERD, asthma, Chronic Lund Disease, and is g-tube fed. It's nice to meet you and I look forward to getting to know you better.

[jessjillmama]

Welcome!

Congrats on your new baby girl, she is so cute in that photo!!

I have a son Jakob who is 18 months old and he has Joubert Syndrome. Its a rare brain/genetic disorder. It affects the area of the brain that controls balance and coordination. The disorder is characterized by agenesis (absence) or hypoplasia (underdeveloped) part of the brain called the cerebellar vermis and a malformed brain stem. The most common features include ataxia (lack of muscle control), an abnormal breathing pattern called hypernea, and hypotonia.

My son is also visually impaired. He has bilateral coloboma and bilateral micropalmia, which means he has under developed retinas and under developed eyes, they are smaller then normal. He does have some vision though.

[glasscandie]

Thanks for the welcome you two!

She does have trouble gaining weight, mainly b/c (well, because, period) her skin's so peely all the time, the nutrients escape thru it. We actually just hospitalized her last week for FTT. She hadn't gained anything in about a week and a half. Now she's gaining again, but slowly - about 1/2oz per day (if that, sometimes it's every other day). But then she'll catch up quickly - if she doesn't gain for a couple days, she'll gain 2oz overnight. But it is a continuing problem. One of the symptoms of Netherton's is failure to thrive, and the kids are often shorter/smaller than "normal" because of that. I know sometimes they give them growth shots, but I don't know too much about that. I'm still just praying the DNA test comes up negative.