Sunday, November 17, 2013

Have To Start Somewhere - Getting the Diagnosis

Well, I feel like I've been writing this first post for years.  Wondering how to share what it's like to be Charlotte's mother.  I just didn't know what to say or where and how to begin.  Somehow, finally having a diagnosis makes it legitimate to talk/write about.  At least now, I know what to call it, what we're dealing with and that we have a new path to take.  The past month or so has been a time to adjust and readjust my mindset.  For eleven years we've been searching for answers as to what's going on with Charlotte - piecing together symptoms and watching for any clue that might give us answers as to how to help her.  We travelled from doctor to doctor, all with the same response, "We don't know what's going on with Charlotte - she remains a mystery to us."  Some doctors were dismissive, while others helped us treat her symptoms but still there were no answers.  I felt like I was on a never-ending detective hunt, determined to find answers - reading articles, asking doctors, asking friends of doctors, searching the Internet, asking more friends, watching other children with Special Needs.  It wasn't until this past year that Charlotte's neurologist suggested that we run a genome array blood test that would break down all of Charlotte's, Ronnie's and my chromosomes and perhaps give us a clue.  Figuring the doctors had already ruled out any well-known disorder by this time, we thought we might find a marker that someday would hold the answer to what was going - they would find that mystery marker that no one knew about yet but someday they would know what it was.  So we sent our samples off to Palo Alto last March and waited. And waited. And waited.  I called periodically and was told they were still evaluating and that there were setbacks given they were working on some FDA approval program.  Finally in the beginning of August, I connected with the clinic director who told me that they had completed the study and at initial reading, did not find anything unusual but that they were now turning it over to their team of geneticists to review further.  Two weeks later, I got a call of the clinic director telling me that they had sent the results to our neurologist.  I respond, "Results?  You found something?"  "Yes, we did but I can not tell you what they are."  But she had already told me they hadn't found anything.  A week later, we finally got a call back from the nurse at our doctor's office, who simply told me that "Charlotte has Rett Syndrome."  No explanation -just a phone number of a local person who could maybe give us some information.  I sat there stunned.  I remember saying, "but we tested her for Rett and it was negative."  No response from the nurse.  I hung up - feeling numb and called Ronnie - come home now - we have a diagnosis.  I sat in silence for what felt like an eternity - not wanting to look anything up or even think.  Ronnie was home within minutes.  I looked at him at said, "Charlotte has Rett Syndrome."  And like me, he said, "She was tested for that and it was negative - how could that be?'  Still neither of us having any clue what Rett Syndrome was.  We both cried and we cried hard. Then we laughed because we were crying.  Why were we crying after all, we finally had an answer. Maybe relief, maybe fear, maybe reality.  Within 24 hours, we had read as much as we could handle about Rett Syndrome and had connected with two incredible mothers of girls with Rett who started us on a new path - finding a cure for Charlotte.  So the gears shifted, from looking for a diagnosis to looking for a cure.  I think the most significant change for me was not feeling alone any more.  I am no longer a sole diagnostician. One of the most valuable organizations that we have connected with is Rett Syndrome Research Trust -  To know there is a potential cure on the horizon for Charlotte and other girls living with Rett Syndrome has lightened our hearts and given us hope.  I do remain baffled that no one detected Rett Syndrome in the past because the symptoms are pretty clear but I move forward and try not to look back. 

So now we have a path.  Still unclear what that path will be but we have a path.  It is that path that I hope to share through this blog.  It's been a journey this far and I know what lies ahead of us will be amazing in various ways.  I hope we can learn together and that you will share with me as well.  I know now that we are no longer alone. 

1 comment:

  1. I can't tell you how happy I am that you finally have some answers...not all of them but a new start for you and Charlotte! I am also so glad that you decided to share your story. I bet it will help others in ways you haven't even considered yet. I am looking forward to reading your updates and will be keeping Charlotte and your family in my thoughts! (((HUGS)))