Anyone's LO diagnosed with dwarfism?

hrhmary

My 2 day old nephew was just diagnosed.  My brother and SIL and still in shock.  Otherwise, the baby is happy and healthy!  They're going to run tests to see which type of dwarfism it is. 

I live about 8 hours away from them, so am struggling with ways to help and be supportive.  I've already found some great info on the LPA site, but am wondering if anyone has any other suggestions...

Thanks!

Mary

JOEBunny

First congrats on your new nephew.  I don't know too much about drawfism, but I have read some on it.  It really matters what kind, some types have a fairly normal life span and ability, while others are limited both physically and mentally.  I hope that your B and SIL's little man has the best possible outcome. 

MummyGruetzie

Congratulations on your nephew!

Our DD has not been diagnosed yet, but there's definitely a possibility that she does has some type of dwarfism. She's almost 2 years old. We just got our bone scan done and read, but are looking to have someone else read it who specializes in dwarfism instead of the doctors who aren't as familiar with it. Bone scans are a huge part of the diagnosis with a lot of the forms. 

Just out of curiousity... how do they know he has it without knowing what type? And so soon? I know that acon is easier to diagnose early on, but there are 200 different types and from what we've learned many of those take much longer to diagnose and the symptoms aren't well understood by most of the doctors I've encountered. I mean its pretty obvious when someone's 10 years old and the height of a 3 year old, but when you're much younger, the difference isn't nearly as pronounced. I'd love to hear what they did to move things along so quick in the diagnosing. 

And yes... as PP said, the different types of dwarfism have very different prognoses, so all of the questions will be much easier to understand when you know what type. 

hrhmary

The doctors were concerned, initially, due to his above average head circumference and below average humerus length.  They did some more xrays and he has some marked abnormalities in his hands/fingers.  My SIL also had elevated amniotic fluid levels during her pregnancy, with no apparent cause...

JOEBunny

This is a useful website.  My DD was born IUGR and SFGA.  She was followed by endocrin and GI until about 2.5 years.  She was failure to thrive 3 times from 6 months to 2 years.  She was "diagnosed" with a "persistant short stature" and tested for a bazzillion things from growth harmone to poop.  There is nothing wrong with her at all.  She is 4 now and about 15% for height and about 5% for weight. my DH and I are both very tall, I am about 90% for height and DH is 80%, so she is not what they would "expect".  She just took a while to "catch up".  Not at all saying the doctors are wrong about your nephew, only that like the pp said, it is something that is hard to tell what the outcome will be at such an early age without a specific diagnosis. 

irishgirl06

Congratulations on your nephew!  I tried posting the other day and I wasn't able to but I sent you a private message.  My son has Hypochondroplasia, which is a type of dwarfism.  Let me know if you need any more info!