PDA

View Full Version : Looking for Birth Defect Info



Nu_mama
04-10-2010, 07:39 PM
Hello, I am hoping someone might be able to point me in a direction to look for more info. Sorry, this may be a little long.

My sister had a baby today and had no idea she was pregnant. In fact, she said she had her period two days ago. After a series of events she was brought by ambulance to the hospital and ended up having a C-section. The baby was about 6lbs and they believe she was about 34 wks. My sister has not seen the baby, but my mother has and this is her (emotional so maybe not quite accurate) description. She said the baby has all appendages but has very long hands, thick feet, very low-set ears and extremely small chin. His hips are also splayed and most noticeable is that he cannot move well. She described it as "constricted" and the doctors believe this is why my sister could not feel him in utero. They are doing chromosomal testing, but they did tell my mother that they know what it is and have a book on the disorder in the nursery, but would not let me mother look at it. What my mom remembers is that it sounded like "asper....something syndrome" but is not sure--she just knows the "as" sound at the beginning. If anyone has any ideas on what this might be or where to look for more info, I would very much appreciate it, there are many of us waiting around for some idea of what this means. I will say that the implication is that there will be life long problems. Thank you if you have anything.

Cam&Clay
04-10-2010, 07:51 PM
First of all...:grouphug:

I did a little bit of research (librarian here) and found Apert Syndrome. Could that be it?

Here's an article on it.

http://en.wikipedia.org/wiki/Apert_syndrome

boogiemomz
04-10-2010, 07:55 PM
wow... what an incredible, difficult situation. so sorry your family is going through this. :hug: wish i had some helpful information for you.

Nu_mama
04-10-2010, 07:57 PM
Thank you. I feel like we are in crazy land right now. Googling is about all I can do besides praying. I will be following this to see if anything sounds on point.

ewpmsw
04-10-2010, 08:14 PM
Prayers and good thoughts for baby, mom and family. :hug:

Jo..
04-10-2010, 08:45 PM
Could also be Acrofacial syndrome/dysostosis or Arthrogryposis

http://en.wikipedia.org/wiki/Arthrogryposis

Tons of prayers for your family and the baby.

BabyMine
04-10-2010, 08:51 PM
:grouphug: Just wanted to send some P&PTs.

ChunkyNicksChunkyMom
04-10-2010, 09:02 PM
Huge prayers coming your family's way, what a lot to take in at once!

scrooks
04-10-2010, 09:03 PM
:grouphug: I hope your family gets some information and good news soon!

hillview
04-10-2010, 09:06 PM
hugs! I would imagine it is best not to start googling so much. With that much information and from your mom who is already upset I would just try to not research too much.

So sorry you are going through the stressful part of this and what a lot to process.
/hillary

JBaxter
04-10-2010, 09:06 PM
Yes many prayers coming your way.

Nu_mama
04-10-2010, 09:10 PM
Jo, you were right. It is arthrogryposis and I have to say that I feel better about this than many other things. Initial reports from the doctors are that it is likely physical disabilities only and this disorder is non-progressive. We all hear of people overcoming physical challenges every day. This will just mean a different way of life for my sister and her family. Here is a link for anyone interested: http://www.merck.com/mmpe/sec19/ch288/ch288b.html

wellyes
04-10-2010, 09:15 PM
Wow, that is great news, all things considered. Good luck to your whole family.

Jo..
04-10-2010, 09:35 PM
That is actually FANTASTIC news!!!! I was thinking while googling that if it was that, well, then a physical abnormality could be really good news and improve with surgeries...health and lifespan should remain unaffected! :love-retry:

Nu_mama
04-10-2010, 09:42 PM
I think so too. Soooo glad that I had a place to turn and post about this.

DrSally
04-10-2010, 10:00 PM
Good news! Esp. this part, "Many children do remarkably well; two thirds are ambulatory after treatment."