Thursday, November 21, 2013

Rett Syndrome 101

Rett Syndrome 101

First, I want to say thank you to everyone that has decided to join our journey and follow our blog to see where this path takes us.  Your kind words and support mean more than I can write. Today I thought I'd share an article that really explains what Rett Syndrome is and help you understand what Charlotte has and how the syndrome has affected her.  Again, this is all from my perspective and observations.  In most cases, the syndrome does not present itself until 18-36 months old in most girls.  These girls typically develop normally and then begin to lose skills.  This does't appear to be the case with Charlotte.  I noticed delays in her as early as five months old and had her in a variety of therapies by the time she was nine months old.  Did this help her from regressing, I don't know.  This is what I do know, she is able to walk though with an unsteady gait but she is not in a wheelchair.  She cannot talk but we have always felt that she could understand us.  It must be so frustrating for her to want to communicate and not get her body to cooperate with her.  She is able to laugh and giggle and yell at us when she's mad.  I think this inability to communicate has made many of us think that she is far more cognitively delayed than she is.  She has use of her hands - not great coordination but is able to point and finger feed.  She likes to play the piano :)  She has no breathing issues.  She does have absence seizures where she stares off or zones out for a few seconds.  We seemed to have these  under control with medication.  She tries to be a great sleeper but often wakes during the night - I don't know if she's had a bad dream, is ready to start the day or just wants company.  Sometimes she goes right back to sleep and other nights it could take a couple hours.  She loves being with people and is always ready to give kisses and a smile.  She loves music too and to be sung to.  I have a terrible voice but no longer hesitate to belt out "You are My Sunshine" in a public place if that is what is going to make her happy!  Her favorite show is Mickey Mouse Clubhouse but we are hoping to encourage to advance her interests.  Her favorite movie is Monsters, Inc and we have watched it at least once a day since she was 2 years old.  I feel like I should be a shareholder in Pixar!  She is able to use the bathroom and signals to us that she needs to go by scratching the back of her neck - she came up with that on her own and it is very discreet - that is if you are paying attention otherwise she will yell at us.  She does still wear diapers for those times we can't get her there fast enough or someone doesn't understand.

So here's a link to what Rett Syndrome is and hopefully this will give you an idea of where we are.  As we are flying to NYC to see a Rett neurologist as I type this, I hope I will have more information about Charlotte in the next day or so.

I'm so happy to be taking this journey with Charlotte.  She continues to keep me on my toes and encourages me to continue learning and growing as a person.  Some say she is lucky to have us in her life but it's quite the opposite, we're lucky to have in our lives.  You'll never truly know what unconditional love is until you've spent time with Charlotte!

Until next time and a New York update,
Lots of love,
Andrea and Charlotte

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.