Role Reversal

Dear Charlotte,

Today is the day I became you and you became me.  The past year has been an amazing uphill journey.  We've opened ourselves up to each other in a way I can't even begin to describe.  We've trusted each other and allowed ourselves to learn from each other.  We both learned we are capable of things we never thought imaginable.  We continue to push each other especially when we think we can take no more.  We go to bed every night exhausted both physically and mentally but yet we wake up every morning ready to start again.  As your mother, I am so honored to be able to open a world to you that I never thought was open to you.  Today you start a new journey - middle school - new school, new teacher, new friends.  We spent the last year asking everyone to educate themselves on Rett Syndrome and to take a leap of faith in you and us. And today it begins.  What a leap!  We've spent the past few days talking a lot about the changes ahead and what to expect.  You quite eloquently told me with your Tobii that you were both excited and scared. How "typically" appropriate.  Last year this time, I had no clue that you were even aware of your surroundings and if you even really knew who I was.  My heart is so full of so many emotions.  So after everyone left this morning,  Abby and Jonathan off to high school and Dad off to work, you and I got to get ready together.  I could hardly believe that everything we were advocating for was about to come true.  I became scared that I had made a terrible mistake.  How could I send you to somewhere new, where you knew no one and no one knew much about you.  Worse yet, you wouldn't even be able to tell them what you want or what you were feeling.  I had all these feelings trapped inside of me this morning  - all these thoughts of worry, excitement and angst but I couldn't tell you.  I know you know this feeling.  Then when we finished breakfast and got your backpack ready, you began to squeal with excitement and kept smiling at me - reassuring me that you were ready and excited.  You marched right out to the bus, strangers and all and got on and greeted everyone with a smile.  The bus rode off and I sobbed - I felt so trapped and unable and unwilling to share my worries with you today but yet you were the one reassuring me that everything was going to be okay.  When I dropped your supplies off at school, while you were off at P.E., your teacher told me that when you got there, she put your glasses on and you gave her a great big smile.  You're awesome and braver than anyone I have ever met - you're my hero, Charlotte Bryman.  Thank you for never giving up ever and helping us let others know that sometimes just acknowledging each other is enough - look where it has gotten you!

I can't wait to hear about your day.

Xoxo,
Mom

Expectations - Sometimes a Smile is Enough

I've been thinking for some time now about what to share next.  I keep finding myself coming back to  the word "expectations."  I'm writing this blog and have "expectations" that I should be sharing more and/or coming up with more to share.  Never sure what it is going to be though but it looms over me and inspires me to do more.  Is this blog about Charlotte, is it about me, is about Rett Syndrome, is it about us as family or is it about all of us in some way or another searching to find a way to bring us together and connect?  I've come to learn that expectations can be both motivating and debilitating.  I think they derive from some inner passion.  Passion to do what, I don't know - guess that's different for everyone.

    

We've started the Copaxone trial and I have certain expectations - not sure what they are but I have them.  Every morning Charlotte wakes up and I'm not sure what to expect.  People ask me every day - are you seeing any changes, what's happening.  Others have expectations of us.  Hard to sort out what's really happening and what my hopes and expectations are seeing.  Wondering if just having a diagnosis has changed my expectations of Charlotte and what she is capable of. 

Then I wonder, what are Charlotte's expectations?  Can she express these yet, no.  Does she have them, I'm convinced now that she does.

A friend just shared some excerpts from a blog written by a young woman in her mid-20s who had Rett Syndrome and sadly passed away a few years ago.  Yes it's wonderful for me to find someone who can communicate what its like to have Rett Syndrome but heart wrenching that I feel I don't always understand and as a mother, feeling as though I'm not doing enough.  I want to cure this syndrome.  I want to open up her world.  I want to understand her.  I want to eliminate all of her frustrations as well as mine.  I want to understand and learn everything I can.  Yep, I have expectations of myself!

Karly writes:

I doubt that most people think about what it’s like to need to urinate and you can’t tell someone you need to go to the bathroom.  I am not able to hold it long enough to get to the toilet, because I cannot walk there myself, so I wear diapers. It’s really embarrassing to urinate in a room full of people even when they can’t tell I am going.  I have to try and calm myself enough so I can do it in front of them.  Sometimes I stare off into space so I can create some privacy for myself.  That’s not a seizure.  

I want to focus on the apparent lack of interest that girls with Rett seem to show in the world around them. I assure you they are listening to every word. It may not always make sense to them, and they certainly won’t look like they are paying attention, but don’t let that fool you. It is not true that they are unaware. I rarely look directly at anything because I am visually limited. What I do see often overwhelms me. So I don’t look at things like the typical person would. The professionals seem to use how attentive we are with our eyes as an indicator of how much we understand. When I was young, I rarely looked directly at people. It was too much intensity. I think our brains process things very differently than a typical persons. If you are using how attentive our eyes are, as the guide to our intelligence, we will never be able to show you who we are. I have been misjudged many times by people who expect me to look directly at them, when they speak to me, or an object they want me to focus on.

I am working hard at using a sports bottle. I want to have a bottle to use that looks like everyone elses. For me, it’s been hard to be noticed when I am eating in public. I can’t stay neat when I feed myself. Even if I try hard, I have food on my face. My Mom reassures me. I have started to want to eat in private, when I am away from home. 

So my perception and expectations change as I type this.  I don't know what today will bring.  I give Charlotte another injection today.  Maybe there will be changes, maybe not.  I watch with a mindful eye and a hopeful heart.

What I do know as I hear her giggling in her bed in her room above my office letting me know that she is awake, that she wakes up happy every morning and has an expectation of me to greet her and sing "You are My Sunshine, My Only Sunshine."  For that one moment every morning, she smiles.  For now, that is enough and an expectation that is filled for both of us every day!

xo,

Andrea and Charlotte  

The Trial

Time seems to slip by so quickly.  The holidays were crazy.  We spent ten days in New York City and we're so excited to start the Copaxone trial.  The first day consisted of eye gaze testing for memory and retention, gait testing and a pulmonary study (this was the worst - three hours sitting still with no eating, drinking or sleeping).  The second day was big - first an EEG and then Charlotte's first injection. Must say everything went smoothly.

I'm going to try and explain in everyday language what we are hoping will result from this trial.  Girls with Rett are born with normal, healthy brain cells.  However, where things go awry is with the branches that grow from the cells that eventually connect with each other and tell our brain what to do and how to interact with various parts of our mind and body.  In girls with Rett Syndrome, these branches sometimes stop growing or don't grow at all, thus inhibiting the brain cells from communicating properly.  The hope of the trial is that the medication will trigger the growth of these branches again and thus allow for overall improvement in most aspects of daily life.   The only area that we've been told not to expect any major improvements with is speech. 

We are now in week four.  The first four weeks we are to administer one injection per week, the second month, we will do two injections a week and month three through month eight we will administer daily injections.

So we will wait and see what happens….our doctor has told us not watch Charlotte under a microscope - ha ha - she clearly didn't realize that I am a Jewish mother that has been waiting almost 12 years for something to help my daughter!  We are starting to see some improvements - nothing major and not even sure if I'm allowed to write about them yet. (okay - she seems to be moving around a lot quicker, reluctant to want to use her wheelchair when out, and seems more cognitively aware).  We will be making monthly trips in January, February and March and then a final trip in August.  Think after these past two trips, we've got the traveling part down but still it's still a bit unnerving.  It's kind of fun to experience a touch of real winter, given it's going to be 80 degrees in Los Angeles today.  I promise to keep this all updated as we move ahead.  

This is a journey I never anticipated taking and one I am thrilled to be on.  As always, amazed my all the love and support from our family and friends.  Ronnie has been our rock - he is always so calm and helps us keep things in perspective.  He is also Mr. New York and the king of coordination and planning.  Will be missing him on the next couple of trips.  Abby and Jonathan have truly stepped up to the plate and were wonderful support for Charlotte on her last trip to NY during all her testing.  Abby is set to give Charlotte her next injection on Monday.

Here's link to the more clinical explanation of the trial.  Charlotte got the tenth and last spot in this trial.  Not sure how she got it, but thankful nonetheless. 

We're off to New York again next week!

xo,

Andrea and Charlotte

Clinical Trial For Rett Syndrome Launched

“Pharmacological Treatment of Rett Syndrome with Glatiramer Acetate (Copaxone)”.  

Principal Investigator: 

Aleksandra Djukic M.D. PhD, Associate professor of Neurology and Pediatrics, Director, Tri State Rett Syndrome Center, The Saul R. Korey Department of Neurology 

Researchers at the Rett Center at Montefiore have begun a phase 2 open label trial to test a potential drug treatment for Rett syndrome, the leading known genetic cause of severe neurological impairment in girls. The drug,Copaxone (generic name - Glatiramer acetate) is medication FDA approved for the treatment of multiple sclerosis.Copaxone’s high safety profile has been documented in large cohorts of patients for more than 12 years.  

The trial, now enrolling patients, marks the beginning of a trend toward drug treatments seeking to modify the underlying mechanisms of neurological dysfunction in Rett syndrome, rather than just treat symptoms such as seizure, sleep disruption or anxiety. Research published in 2007 demonstrated that severe symptoms in animal models of Rett syndrome can be reversed, even in advanced stages of disease.

Background/rationale for the study: 

In Rett syndrome brain cells aren't actually lost, instead poor maturation of connections between brain cells (synapses) prevents effective neurological functioning, and is the main morphological feature of the disease. The MeCP2 gene plays a major role in transcriptional regulation of other genes, one of which is the gene encoding brain-derived neurotrophic factor (BDNF).

The disease progression and severity of symptoms is directly affected by the level of BDNF expression. An increase of BDNF levels (by genetic manipulations or pharmacological agents) leads to delayed onset of Rett syndrome-like symptoms in experimental models; rescued gait/mobility, improved quality of life and increased survival rates.

Copaxone treatment by subcutaneous injection caused elevation of BDNF levels.  Quantitative immunofluorescence assays showed about a twofold increase in neuronal expression of BDNF following Copaxone treatment.

We expect that an increase in BDNF levels with Copaxone administration will stimulate communication between brain cells (synaptic maturation), which will lead to amelioration of symptoms (motor functions/gait, cognitive functions, breathing, encephalopathy and improve quality of life) for girls with Rett syndrome.

Eligible patients: 

The 6 month pilot study will include girls with genetically confirmed Rett syndrome, who are 10 years or older and ambulatory.

Exclusion criteria: Prolonged Qtc (obtained within 30 days prior to enrollment); Presence of co morbid non-Rett related disease; Presence of immunodeficiency requiring IVIG 3 months prior to enrollment; Allergy/sensitivity to GA or mannitol.

Funding: 

The clinical trial is funded by the Rett Syndrome Research Trust.