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jacobkempfssmom 04-11-2006 08:52 AM

just born & need answers help!
My sister just gave birth this morning and the baby boy and he unexpectedly has some health problems. This can't be happening to her again! She has a 5 year old son with developmental disabilities in special ed. classes. A two year old girl with Progeria. (speeds up her aging process 100 times) She already has arthritis, bald and has lost her teeth. And now their new baby was born this morning with what appears to me to be down syndrome. They tested him today for D/S because he has a malformed nose and lower ears. He tested negative. He did test positive for an extra chromosome though. They said there is another test that they need to run but it has to wait for 48 hours before it can be done. What else could this be???? Can anyone help us? I just don't know how much more my sister can take. Her daughter's disease is so severe. She is one of only 7 children n the U.S. with it.
She is beginning to question her faith in God.

cortsa 04-11-2006 12:39 PM

Re: just born & need answers help!
hi. sorry i don't have any knowledge about other chromosonal disorders. my first and only child has DS. he is 6 mos. old. it sounds like your sis has had an unimaginable amount of difficulty placed on her through her children. she sounds like a strong woman. i'm sure god will pull her through this one too, although it seems to be stretching her (and her family) more than she thinks she can handle.

please let us know the results of the test and how we can help.

blessings. :angel:

angelique5 04-11-2006 11:45 PM

Re: just born & need answers help!
on the technical aspect of it... ya know, we have 46 chromosomes... in pairs, so 23 pairs... if its a trisomy (1 extra chromosome), there aren't very many that are generally compatible with life... Trisomy 21, is Down syndrome... Trisomy 18 is another common one...there are websites dedicated to trisomies, that you could find a lot of useful information on, and look into a few other rarer trisomies.

Has your sister and her husband had any genetic testing done? if not, I would highly recommend it...

sounds like she's going thru a lot... please, keep us posted on what her testing shows...

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