Hypercalcemia and/or Williams Syndrome

Re: Hypercalcemia and/or Williams Syndrome

• Options

  akimbo

  August 2009

  My DS has WS...he's 3 - diagnosed at 18 months. I'd be more than happy to answer any questions you may have.

  Report0 Reply
• Options

  lincn

  August 2009

  What symptoms were presenting that led to the diagnosis?? Did he have hypercalcemia?? Was his development delayed?

  
  

  My dd isn't delayed at all yet - she actually walked at 10 mos but she has some of the possible facial features - turned up nose, puffy eyes, etc and she has hypercalcemia with no other known cause.??

  
  

  
  

  Thanks for any input.. Im really nervous..

  Report0 Reply
• Loading the player...
• Options

  akimbo

  August 2009

  At 15 months he wasn't walking, talking or chewing food...this had gone beyond "he's just a boy...boy's do things later" and we really started chasing a Dx. I think the Developmental Pediatrician saw WS in DS...Dx confirmed by blood test (FISH).

  DS was born nearly 2 weeks late and was still low birthweight and jaundiced.  He had an umbilical hernia, an undescended testicle, and a heart murmur from a Ventricular Septal Defect...none of these symptoms are particularly alarming by themselves, but were quite puzzling all together - especially since DS wasn't a premie and there were no obvious reasons. 

   DS had a tough time gaining weight at first, wasn't so great at nursing and had a poor suck/swallow. After a few weeks we realized DS also had GERD. We also realized DS had some noise sensitivities (but so do many kiddos) and oddly that lullaby's didn't agreee with him at all. 

  The first few months were TOUGH, but in general, he was the sweetest, most affectionate little guy.  We got DS into Early Intervention and he's made leaps and bounds of progress. In many situations its tough to see that he's still a bit delayed in some areas.  He's unbelievably cute and the sociability is really starting to shine.  He'll win you over in 5 seconds flat and 95% of the time he is just walking happiness. The other 5% of time he's a 3 year old LOL.

  How old is your DD? Does she have any oral/motor issues with speech and/or feeding? Any noise sensitivities? Does she cover her ears? Here's an odd little WS thing, her pinky fingers, do they curve in? How is her heart? Is there any aortic/pulmonary stenosis?

  It can be really scary to read about WS - one thing to remember is that even if your DD has WS, she won't have all the issues you read. In general we're a very happy family with a very happy little boy.

   I'm pretty careful to keep enough of our info off the Internet - I'm going to try to PM you (never done that before) with my contact info.

  Report0 Reply