home genetic news bioinformatics biotechnology literature journals ethics positions events sitemap


UBBFriend: Email This Page to Someone!
  HUM-MOLGEN
  DIAGnostics - Clinical Research (professional requests)
  Geleophysic Dysplasia

Post New Topic  Post A Reply
profile | register | preferences | faq | search

next newest topic | next oldest topic
Author Topic:   Geleophysic Dysplasia
Administrator
Administrator
posted 05-17-2001 02:22 PM     Click Here to See the Profile for Administrator     Edit/Delete Message Reply w/Quote
OMIM *231050: GELEOPHYSIC DYSPLASIA

I have a 5 year-old patient with the diagnosis of geleophysic dysplasia. I am seeking information regarding current research or treatment options. Parents of the child are also seeking information about other families with geleophysic dysplasia to communicate by internet or telephone for social support. Thank you.


Tammy Pasko, RN, MSN
( tapasko@concentric.net )
Indiana University School of Nursing
1111 Middle Drive
Indianapolis, IN 46202

IP: 160.45.191.21

shilo1218
Member
posted 12-22-2001 10:18 AM     Click Here to See the Profile for shilo1218   Click Here to Email shilo1218     Edit/Delete Message Reply w/Quote
My daughter ashly was diagnosed with geleophysic dysplasia a few days ago.
officially.
There is no treatment available because the gene involved has not been identified.
As I was told a few days ago...from Dr. Wilcox .who has done studies on this disorder...he feels that the life expectancy of childhood fatality is not typical....and not likely. that the case described was a child who had the severest form of it
the main health concerns are anesthesia complications because of narrowing of trach and airways....heart failure if a child had severe cardiac involvement...and of course respitory complications of pneumonia but only if tracheal narrowing was severe that it would cause an obstruction of airway.
from what I understand their growth will not be enhanced with growth harmone tx. we took her off because the accumulations of collagen thickened inside her tendons causing more stiffness of her hand that had just underwent surgery in hopes of being able to bend her fingers and make a fist.
At this moment I e-mail 2 other parents with children with geleophysic dysplasia, know of another family. and I have just created and started an email message board support group to find all those diagnosed with geleophysic dysplasia

both you and their family may join... I've also asked Dr. Wilcox from Cedars Sinai in LA to join..(he diagnosed Ashly)
http://groups.yahoo.com/group/geleophysic/
our geleophysic dysplasia group- started 2 days ago.

have the parents email me too.

sincerely
shilo

quote:
Originally posted by Administrator:
OMIM *231050: GELEOPHYSIC DYSPLASIA

I have a 5 year-old patient with the diagnosis of geleophysic dysplasia. I am seeking information regarding current research or treatment options. Parents of the child are also seeking information about other families with geleophysic dysplasia to communicate by internet or telephone for social support. Thank you.


Tammy Pasko, RN, MSN
( tapasko@concentric.net )
Indiana University School of Nursing
1111 Middle Drive
Indianapolis, IN 46202


IP: 198.81.16.43

All times are ET (US)

next newest topic | next oldest topic

Administrative Options: Close Topic | Archive/Move | Delete Topic
Post New Topic  Post A Reply
Hop to:

Contact Us | HUM-MOLGEN

Copyright by HUM-MOLGEN 1995-2015

Powered by: Ultimate Bulletin Board, Version 5.44a
© Infopop Corporation (formerly Madrona Park, Inc.), 1998 - 2000.

By posting requests at HUM-MOLGEN you reach more than 9.500 mailing list subscribers and a 6 digit number of www users. Therefore post high quality messages only, including full name and institutional address.