Tuesday, September 11, 2012

Thursday, September 6, 2012

Some good news

Today we went to the first of several specialists appointments we have for Miss Mady.  We drove to Aurora (1 hour and 1/2) to the Colorado Children's Hospital to see the rehabilitation specialist that specializes in mobility disorders.  
First, can I just say that the Colorado Children's Hospital is pretty much the best hospital I've ever been to.  It was so easy to park, find our Dr. office, and beyond that, they had wagons which Mady could ride in.  (That was a huge hit with Mady of course and may have jumped up to the top on her Christmas wish list.)
The specialist gave us some VERY encouraging news.
In his opinion, he thinks that she has a Collagen 6 disorder which means she has extra stretchy collagen which causes her joints to hyperextend.  In her case, he thinks she probably fits into a group of kids that have this disorder that cannot really be defined.  Meaning that genetic testing may or may not discover what she has.  This is a VERY good thing.  If you're ever bored, google disorders with hyper mobility.  Some of the disorders that have hyper mobility as a symptom are not good.  Some even can shorten the life span.  The Doctor was certain that she did not fit most of these disorders.  
He also tested her reflexes.  I found this interesting because no other doctor has done this before.  He said that because she has good reflexes that it's not a cognitive problem.  Her muscles will fire when the brain tells them to which is GREAT news.  And that in itself rules out a lot of things she could have.  
We asked a lot of questions, of course.
One of my concerns was that in a lot of kids with hyper mobility, it can affect their organs.  He said that it typically only affects hearts and eyes.  If her collagen was affecting her heart, we probably would have heard a murmur by now, and so far, no other doctor has picked up on that yet.  GOOD NEWS!   
Overall, Mady will get stronger and will learn to overcome her extra stretchy collagen and will be a "normal" child.  
The doctor did dash our dreams for our child when he said "She probably won't ever be a construction worker though!"  HAHA!
Perhaps the most encouraging thing he said was "We see a lot of children with hyper mobility."  Sometimes, being parents of a kid that is developing differently makes you feel isolated, like she's the only one struggling with this.  It also doesn't help when her previous primary care doctor admitted "I have never seen this before."  To know that she's not alone and that it's not unusual is very encouraging.  
So where do we go from here?
1. We will be getting genetic testing done even though the results may be inconclusive.  It will help us know if there are any major concerns with Mady's health.  This wont be until January.
2.  We will be seeing a cardiologist just to make sure there are no heart problems.  We're hoping to get this done in the next couple of months.
3. We will have a follow up appointment with the rehabilitation specialist so he can track her progress.

After being at the Children's hospital and seeing all types of children, Jeremy and I are so thankful.  We saw children who were hooked to IVs or that were unable to do anything for themselves.  We are so blessed.  I kept telling Jeremy, we could be going to this hospital for so many worse reasons than a gross motor delay.  There are so many children there that can't leave the hospital and come back to their home.  We have much to be thankful for.  Miss Mady is healthy and will get stronger in her own time.