Parenting a child with special needs - Does anyone have any info?

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Does anyone have any info?

Printed From: OHbaby!
Category: Support
Forum Name: Parenting a child with special needs
Forum Description: A place for those parenting children with special needs to find support and share their thoughts
URL: https://www.ohbaby.co.nz/forum/forum_posts.asp?TID=20830
Printed Date: 05 December 2024 at 2:31am
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Topic: Does anyone have any info?

Posted By: ElfsMum
Subject: Does anyone have any info?
Date Posted: 11 September 2008 at 9:43am

does anyone have any info on

Spondyloepiphyseal dysplasia (SED) congenita

(follows an autosomal dominant' pattern of inheritance)

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Mum to two amazing boys!

Replies:

Posted By: susieq
Date Posted: 11 September 2008 at 1:00pm

Could you google it

Posted By: fire_engine
Date Posted: 11 September 2008 at 3:22pm

Sorry - took me a while to answer your Q from the other thread. I've only read the stuff on google - haven't ever heard of it before. I'm trying to think of sources of info in NZ. Again the genetic counselling service comes to mind. One article (case study) that came up about cleft palate repair in SED was written by surgeons at the Hutt Hospital burns and plastics unit. It included an email for the lead author who might be able to connect you with someone who knows more. http://apt.allenpress.com/perlserv/?request=get-abstract&doi=10.1597%2F02-159&ct=1 - Article abstract .

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Mum to two wee boys

Posted By: ElfsMum
Date Posted: 11 September 2008 at 3:40pm

thanks I will have a look later on! ...yeah we have an info sheet...i really dont like googling as often info is wrong.. and scary!:)the geneticist at the hospital really wanted to assess him and see him but he wouldn't go:(

we have the basics..and my Dad has a very mild form..but we have been told between 20-60 cases in the world when he got diagnosed in 1977 but I'm not sure how right that is.. sorry Flissty I wasn't trying to hurry you just wondering if anyone knew anything:) you never know...

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Mum to two amazing boys!

Posted By: fire_engine
Date Posted: 19 September 2008 at 11:28am

Just found this website - don't know if it has info on SED http://www.nzord.org.nz/default.asp - Rare Disorders

ETA: if you go into the link "rare disease databases", and the emedicine, which you have to register for, it has a reasonable article on SED.

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Mum to two wee boys

Posted By: my2angels
Date Posted: 19 September 2008 at 1:17pm

What is it? I havent heard of it but noticed the article mentions cleft palates which is interesting.

Posted By: ElfsMum
Date Posted: 20 September 2008 at 7:55pm

It's a bone disease.. barrel chest.. and his arms and legs slowly locking up with bone attaching to his joints basically..I haven't read the article yet but he doesn't have any cleft palate issues.. will read tomorrow:)

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Mum to two amazing boys!