Thursday, December 31, 2015

She's So Beautiful

She’s So Beautiful


As another year is coming to an end and tomorrow we start a new one, I thought like so many others that now would be a good time to reflect on where we’ve been and where we’re going.  I know, this blog is so long overdue!  I haven’t looked back on my last post so not exactly sure where we left off but who cares – just ready to share some new thoughts.

Last week we returned home from our most recent check-up with Dr. Sasha at the Rett Center in Montefiore Hospital in New York.  Charlotte had a great visit and we are going to continue with the Copaxone as she has made great strides – her gait speed has increased over 75% from the time she started it and she now has a completely normal EEG with no abnormal brain activity.  Her hands have stiffened a bit though and in fear of them getting worse, we are starting a Parkinson’s medication, called Artane, hoping it will loosen her wrists some and make it easier for her.  Testing the medication now and hoping for minimal side effects.  Some other medications we are excited about that may come in the very near future but will hold back on sharing that news until a later time.

One of the most powerful moments for me on this trip was visiting with our cousins who hadn’t seen Charlotte in over a year and I was anxiously waiting to hear their observations and if they had noticed anything different.  Of course, everyone said she looked great – but seriously, what were they going to say…! However, my cousin, Debra, said to me, “Charlotte looks so beautiful.  I mean it, she is so pretty.”  I was taken back at first, as of course, my initial thought was “Did you think she was ugly before?”  But then I got it.  Charlotte has become beautiful as she has a new sense of who she is and while she can’t outwardly tell you with her words – her body exudes her sense of being!  She is accepting of her self and is so aware of how accepting others are of her as well.  She is a player in the world now and she knows it.  Her head is held high and she makes eye contact with everyone.  Her curiosity of the world around her is endless and she wants to be in everyone’s business.

Two years ago when we first went to New York, Charlotte, spent at least half of her time in a wheelchair only wanting to watch her iPad, not wanting to walk or engage much.  Two weeks ago, she refused to sit in her chair and actually screamed at me in the airport when I made her sit in it to move things along.  She walked the first day in the pouring rain well over a mile, up and down curbs and through multiple puddles to see the Christmas tree in Rockefeller Center.  The following day she walked three and a half miles before dinner with such determination as if she had something to prove – I kept telling her to slow down that it wasn’t a race.  But I truly believe she felt she had something to prove – not to us but to herself.  Such fortitude.  Such perseverance.

Her life is not easy by any means and not every day is a good one.  She’s had a lot of changes over the past year – she started a new school last year – our local middle school, we moved homes which entailed living in a hotel for almost two months, we lost close family members and gained a new one.    Her ability to adapt and adjust to change is tremendous.  She is a like a rock –she is solid and ready to take on any new challenge –usually with a smile but occasionally we get a few grumbles but after all she is a teenager!  She received the Principal’s Award last Spring for academic excellence.  She is telling us her thoughts and needs with her Tobii.  She has started writing sentences and enjoying books – both reading and being read to her.  She drove a golf cart!  She’s telling us who she is.  She’s telling us that she’s here and while she cannot use her verbal voice, she has figured out how to be an active part of all of our lives.

So yes, I get it.  Charlotte is so beautiful.

From our family to all of yours, we want to wish you all a very Happy and Healthy New Year.  Thank you all for all the love, support and encouragement you give us through this amazing journey.  There is never a day that goes by that I don’t feel proud to be a mother.  Thank you Charlotte for always giving me perspective and modeling what the meaning of life is all about!  May the coming year be filled with many more exciting adventures and milestones.

Xoxo,

Andrea, Ronnie, Charlotte, Abby and Jonathan

Friday, February 6, 2015

Not So Good with Complacency

Complacency according to Merriam-Webster's dictionary is "a feeling of being satisfied with how things are and not wanting to try and make them better." I'm becoming aware very quickly that Andrea and complacency are like oil and water.  I assume I never have been good with it, which quickly explains my never-ending desire to be a high achiever.  However, this journey with Charlotte has really forced this to the forefront.  

Charlotte's official trial with Copaxone was over last August.  It has been a great success.  Her gait improved by 75% and pulmonary study improved by 50%.  Of course the eye gaze testing system broke down at the very moment of her test and we'll never truly have that result.  The success has allowed to her to continue taking the medication.  She has made unremarkable strides.  She hardly ever sits in her wheelchair - we often just end up taking it and leaving it in the car or push it around to carry our stuff.  She is so engaging and really wants to be part of everything we are doing.  She is active both physically and cognitively.  She adapts quickly now and is open to trying new things (better than her brother, I must say).  Tonight I read through all my past blogs and can't believe what a difference this past year has made.  We went from no diagnosis, to completing a trial with several cross country trips, specialists coming to California to teach about Rett, changing to a typical school where everyone believes in her and wants to help her grow.

Things are going great.  

Charlotte is happy. 

She has friends. She's healthy.  She sleeps through the night.  She no longer takes seizure medication. She's engaging. She seldom gets upset.  She likes to be part of all that we do and also go out on her own with her sitters.  She makes lots of choices now - just a couple of days ago, she picked out her own outfit for school and was so happy she couldn't stop kissing herself in the mirror.  She even picked out her own earrings for her birthday.  She got straight As on her report card (minus the B in PE - she gets a pass on that - really, what kind of teacher gives a disabled child a B in PE - a bit messed up if you ask me.).

I'm happy.  

Really, don't get me wrong. I marvel at Charlotte every day and how far she has come. I cherish every moment with her- even when she pokes me in the face while I'm getting her dressed. I love that she teases me and realizes that we can actually have a two-way communication.  I love when she leans against me while we sit side-by-side.  I love how she looks at me every morning as I tell her what lies ahead for the day - she really does like me giving her a rundown of the days activities. 

I love that I have balance in my life.  

I love that I have two other amazing children that challenge me in so many other ways.  I love watching them engage and include Charlotte in our daily lives.  I love that they remind me that they can make fun of her like she was a typical sibling and that she likes it.  I love that they are protective of her.  I love knowing that they will always be there for her.  I love my work.  I love that for at least five days a week, sometimes more, I get to help people create families. My work day is filled with hope, aspirations and altruism - all about people helping people - with a few nuts along the way to keep things interesting.  I love that I get to share my work with my father who is my typist.  This bonus allows me to communicate with him all day long about so many things and love the relationship that we have.  But the key to my balance is my relationship with my husband.  Not only is he the father of my children, he is my husband and that relationship is what keeps this all together. We really do have an amazing partnership.  We have so much fun together.  Yes we do have moments when we get on each other's nerves and yes, we argue at times but those moments a far and few between.  We both know we are on a journey together and both share the same wonders and fears.  We trust each other on the deepest level.  We respect each other's needs to be individuals within our unit. We laugh a lot.

Complacency: "a feeling of being satisfied with how things are and not wanting to try and make them better."  I wish I could feel this.  Yes I can be in the moment and clearly you can read about that I appreciate what I have and what we have accomplished.  But now I'm in a moment where there are no more doctors appointments, no new school transitions, no new medications, no searches for a diagnosis. I want more.  I continue to educate myself.  My brain is always going.  There has to be more we can be doing.  How long is it going to take to find a cure?  Why can't I figure out a cure?  Why can't I make my daughter better?  It's so damn frustrating.
  
I think we have the medical aspect in check for now.  So now, I'm thinking to move onto emotions and communication.  I've started to try and connect with other parents who have children with Rett Syndrome, maybe that's a new aspect to explore.  Do I want to hear what others do? How they cope?  Sometimes I do.  Sometimes I don't.  Sometimes I find information I've never heard about. Sometimes I read about amazing courage.  Sometimes I read about a young girl that has died from Rett.  I stop then.  Sometimes but selfishly, I just like riding this frontier alone and for the past year at trailblazing speed.  I don't want to know about potential road blocks.  I want to move forward.  It's really hard to sit with a diagnosis that has no cure.  That's the emotion part I'm working on.  Quite frankly, I think Charlotte is too.  I often try and show her videos of girls with Rett and what they are doing - thinking that she might like to see that there are girls struggling with the same things as her - she wants nothing to do with it.  She turns her head and pushes the iPad away as if to say, don't put this in my face, I know what I have and what I'm dealing with. Okay. So maybe she can communicate her feelings better than me. 

So communication it is. This is our new focus and maybe something I can learn so I don't feels so complacent and/or stagnant.  We have a Tobii at home now and still need someone to really train us how to effectively use it.  We supposedly have a Tobii for Charlotte to use at school though the computer is locked and the district office is trying to unlock it -whatever - we'll get that resolved soon one way or another.  I love that her teacher is excited to teach her with it and wanting to learn as much as she can.  I'm headed to Orlando in a couple of weeks to attend a seminar called, "Introduction to Guided Reading" by Susan Norwell.  Susan has her MA in Special Education.  She has spent the last 26 years in private practice working with children on the Autism spectrum and girls who have Rett Syndrome.  Her current focus is teaching literacy skills for children without verbal language and with significant disabilities while integrating augmentative communication and technology supports.   She has agreed to meet with me and teach me some skills to use with Charlotte. I hope to pass these onto her teacher as well.

I started off this blog feeling sad that I wasn't content with where we are.  I am though and appreciate it all. So as I have been writing, I've come to realize that it really is possible to live in the moment without being complacent. Onward and upward.

New post after the conference.
xo,
Andrea

Wednesday, August 27, 2014

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

Thursday, February 6, 2014

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  

Tuesday, January 14, 2014

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.






Sunday, December 1, 2013

Feeling Thankful...

It's hard to believe that in the past week, I have travelled to and from New York, attended a rap concert, celebrated my 21st anniversary, Thanksgiving, Hanukkah and have managed a couple days of work in there too. Time to breathe and reflect a bit.  Deep breath.

New York was amazing on so many levels - experiencing the city through Charlotte's eyes and seeing that she enjoyed all the hustle and bustle that went along with it.  Fun to see her cover her eyes and ears when it all got to be too much.  She loved watching the people and experiencing being out and about - even if it meant bundling up and staying out late.  Our appointment with Dr. Djukic was beyond any expectation we could have had.  She greeted us at the door and looked directly at Charlotte, introduced herself, told her she was going to make her a lot better and gave her hugs and kisses.  She then proceeded to spend the next four hours with us telling, explaining and answering as many questions as we could come up with about Rett Syndrome.   We met with a speech pathologist who is going to train our family in using a communication book - http://www.spectronicsinoz.com/product/pragmatic-organisation-dynamic-display-podd-communication-books-direct-access-templates  and also arrange for Charlotte to start working with eye gazing communication tablet as well - http://www.tobii.com/en/assistive-technology/global/products/hardware/tobii-i-series/ . We came away from our visit feeling confident that we have been doing many of the right things for Charlotte but also there are areas we can make some major adjustments.  We are starting by adding Trazadone to her nightly routine to get her to sleep through the night - Dr. Sasha said there was no reason that any of us should be up during the night any more - I'm all for that!  She's been taking the medication for the past four nights and we've all slept well for the past three nights.  Next she prescribed eye drops - one drop on a Q-tip and rub it under her tongue twice a day to reduce her drooling - seems to be helping.  This will be great when Charlotte is at school and her typical peers will be less put off by her drooling.  She explained a lot about brain development to us and how girls with Rett Syndrome have healthy brain cells but it's the branches that grow from these cells that don't develop fully or in some cases not at all.  It is these branches that touch each other that allow our brains to communicate and know how to act - both physically and emotionally.  There is a clinical trial going on now using a medication called Copaxone that is currently FDA approved for people with Multiple Scoloris.  The hope in this trial is that the medication will stimulate the growth of the branches from the brain cells and thus improving many aspects of the girls functioning.  She has two spots open in this trial and we all feel Charlotte will be a good candidate.  If all goes well, we will be starting the trial later this month - which means another trip to New York and then follow up visits at four, eight, twelve week marks and then at 6 month mark - certainly will be racking up those frequent flyer miles!  One of the most profound moments of our visit was the doctor telling us that they hope to have a cure for Rett Syndrome within  ten years.  She told us our job is to get Charlotte ready for the cure.  She wants her to be both physically and cognitively ready.  So we are officially in training!   For all the information and time that was given us, I am thankful!

Monday evening I got to spend some time with my 13-year-old son.  Just him and I out to dinner and then to see Drake at the Staples Center.  While I clearly know this was not the optimal setting to be in with my son, we both seemed to forget all that had been going on around us and just enjoyed being in the moment and having fun together.  I know these moments don't come along too often and I cherish them when they do.  For this time alone with him, I'm thankful.

Hanukkah started on Wednesday - didn't know that until Tuesday night when our children told us.  Had really thought it started on Thursday.  Needed to kick into holiday mode at hyper-speed - thank goodness there's eight nights so still had time to get more gifts.  Both Abby and Jonathan were out so who cares that I rushed around to get the house decorated and Ronnie rushed to get gifts for me to wrap.  Charlotte did.  We lit the candles with her and she grinned ear to ear to have us all to herself.  For that moment that she was grinning, I'm thankful.

Thursday was spent celebrating Thanksgiving with our family.  This was the first year in many years that I opted out of cooking.  We had a great evening and meal at my sister-in-law and brother-in-law's home.  Started off a little shaky when Charlotte entered the house screaming but after a couple bathroom breaks and few appetizers, a glass of wine for me, all was smooth sailing from there.  For our wonderful family, a great meal and not having to do any dishes, I'm thankful.

Thursday was also our 21st wedding anniversary.  The day was so busy with cooking desserts and watching Charlotte that we never really got to celebrate as we have in past years.  This year it was a quick "Happy Anniversary" over our morning a coffee and another quick "Happy Anniversary" as we kissed each other good night after being beyond exhausted from the day.  For not needing to celebrate big and knowing that we are always there for each other, I'm thankful.

Tonight is Sunday and the first night in what seems like an eternity that all five of us were together.  We ate together, we talked, argued a little and laughed.  We all lit candles and watched the kids open their gifts.  No one was disappointed tonight.  Finding the right gifts for our children has always been a challenge but this year finding age-appropriate gifts for Charlotte rather than previous years that we've opted for preschool toys has been the biggest challenge but has had the biggest pay off.  Night one, she opened bubble bath, lotion and candles  - big smile and squeals.  Night two, too late to open gifts after Thanksgiving - extra time for us to shop.  Night three, a disney light that changes your room colors as you turn the pages of a story on Disney Storybook app on her iPad.  She loves that - she's been reading/following the stories as they are being read to her.  Huge hit!  Night four, a lava lamp - more squeals and smiles.  This awakening that we are finally getting her and understanding her is so evident in the way Charlotte reacts to us.  Tonight, night five - a treadmill for her room.  I'm attaching a video for you to watch.  When the evening was over, we sat on her bed together and she leaned against me and squeezed my leg with a huge smile on her face and I know she was saying "thank you".  I'm so full.  Tonight my other children saw that Charlotte really is understanding and making all the connections - for all of this, I'm thankful.



video



The past week I've been reading all kinds of posts of what people are thankful for and have been pondering in my free time, what am I really thankful for right now.  Of course there are the usual things, my family, my friends, my health, yada, yada, yada but I knew there was something more. I know now that  I'm thankful for the hope that has been given us.  I'm not saying this in a cliche or trite way but in a way that is deep inside each one of us in our family.  Hope that we are all getting to know ourselves and each other in a whole new light.  Hope that our future has a very different picture than it did just a month ago.  Hope that ignites a fire in all of us to be more and to do more…

With that, I wish you all a very Happy Thanksgiving and Hanukkah!


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.

www.mayoclinic.com/health/rett-syndrome/DS00716

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
#GoTeamCharlotte