Monday, May 21, 2012

Monday, May 14th, 2012

Today started as any other Monday morning - busy at work with a long week stretching ahead of me.  And then a noticed a posting from another Nager mommy that said the geneticist working with her child had discovered the gene for Nager.  For a moment it almost felt like time stood still.  As I reviewed the article from Calgary and then found the actual study (see both below) I was so excited.  Almost 2 1/2 years ago the University of Washington had announced they had discovered the gene for Miller Syndrome which has many similarities to Nager Syndrome.  We figured we would hear any day that the gene for Nager Syndrome would be discovered as well.  But as time went by without any announcement I figured that they must have run into some problems.  So to hear something now after all this time came as an unexpected but welcome surprise.  The Nager Syndrome Facebook page came alive with comments and questions.  We were provided with the email address of the geneticist in Canada that is mentioned in the article so I shot off an email immediately to thank him for his efforts.  Within moments he responded back - how thrilling - it was like talking to a celebrity! 

After the excitement wore off, the reality is that for the moment nothing really changes.  We have a February 2013 appointment to meet with the pediatric geneticist at Primary Children's.  (Yes, you read that right - February 2013!).  Our super star pediatrician, Dr Norlin (who is also now Jason's boss) said that Dr Carey would try to get us moved up to see him by the end of May so that he can review the study and work with Dr Bernier to get Peyton's blood tested for the gene. 

But despite having to hurry up and wait like is often the case with technology, something has changed.  Because now there is hope.  Hope that in the future with genetic testing and/or gene therapy, Peyton may have the ability to have children of her own that don't have Nager Syndrome.  I wouldn't change our experience because I have learned so much about myself, Travis, my family, my friends and the goodness of strangers through Peyton's syndrome.  But if I could remove the pain and fear that Peyton has had to experience I would do that in a second.  Because of the hard work of Dr Bernier and the University of Washington, Peyton may have the opportunity for a "normal" childhood for her child - and my grandchild - and that is more than I ever could have hoped for 4 1/2 years ago when we first heard of Nager Syndrome.

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