Thursday, August 19, 2010

Diagnosis Confirmed

We got the results back today from the genetic test. It's confirmed that Maddy has Diastrophic Dysplasia. No big surprise there - it was nearly six months ago that I suspected that diagnosis in this post here. And since then, it seemed to be confirmed over and over in Maddy's symptoms so we weren't really expecting a different result. We don't have the results yet for Bernard and my genetic test - but 99% of the time, Diastrophic Dysplasia is an autosomal recessive disease - so both parents must be carriers. We will meet with the geneticist probably next week on Friday and should get the results to that then, if not before. I'd love to not have to worry about passing this on to our next child, because we would like more children. Chances are though that there's a one in four possibility of our next child also being Diastrophic. Many people would choose not to have more biological children with those odds - but DD isn't the worst thing that a child can be born with, so others still choose to have more children regardless of the odds. 

In other Maddy news, she's starting to get the ear cysts which are very common among DD babies. The nurses have put a compression bandage over the affected ear so hopefully it doesn't scar into a cauliflower ear. The ear cysts usually last around 3 weeks or so and then heal with no permanent damage (apart from scarring - but the compression bandages should minimise that). 

Also, the ENTs, orthopedic doctors and anesthetists will meet tomorrow at noon to discuss Maddy's neck issues - I'm not exactly sure what they're discussing because I thought it was confirmed that they were going to do the CT scan next. Maybe they're going to change that again on us, I don't know. But at least this meeting should finalise whatever they're going to do so that we know what's happening with her... 

There's not much else new going on. Maddy is still stable, still off all the machines but still on the NG feeding tube. The occupational therapist still hasn't come to start the oral stimulation, hopefully that will start soon so that she can get off the feeding tube as well. She already does suck on a dummy (that's a pacifier for all you Americans ;) ) so hopefully she learns quickly and can get the feeding tube out soon :)

1 comment:

  1. The DD ear "bubbles" don't scar, but instead deflate and the cartilage hardens into whatever shape it can. Good news that Maddy is already getting the compression method on her ears -- the more that happens, the better the chance of getting a nice close-to-the-head ear result.