Thursday, August 25, 2011

Living in the present

A child is love in its purest form.  Caroline's ability to love unconditionally is her most precious skill.  The initial information we had read about Rett Syndrome wasn't clear about how the disorder would affect the social-emotional aspect of her development.

Rett Syndrome is full of unknowns, especially around what and how much it will eventually take from Caroline.  At the beginning of our journey, we were overwhelmed with questions about her future and ours.  We had no idea how to even begin to process the magnitude of what we were facing.  Our conversations about anything beyond tomorrow would often leave our heads spinning.  We prepared for the worst and hoped for the best, but our thoughts often returned to fears about "the worst."  In our case, our biggest fear was that we could lose Caroline's spirit.

We quickly found out it's impossible to predict the progression of the disorder so we were thus forced to stop trying anticipate and plan for whatever would come next. We started to savor every second we spent with her as if it were our last.  Soon, this new approach became the norm for us.  I can totally lose myself in the moment when I am with her and I am grateful for that.  My favorite part of each day is when Mike, Caroline, and I are on the floor playing, talking, and just being in the moment...enjoying the present, which I find easier to do when I am around them.

Rett can break your heart over and over again in so many different (and sometimes unexpected) ways.  I still have some dark moments, especially when I am alone with my thoughts.  I think about things I shouldn't.  I think about the "whys" and "what ifs" and find myself back to mourning lost dreams.  Yet somehow, Caroline's diagnosis is teaching me to finally truly live in the "now."   

Below is a video taken on Saturday.  Daddy and Caroline were working on standing while playing on her musical piano toy.  Every time the little monkey on her piano laughed, daddy would laugh, which in turn made Caroline laugh too!  

Saturday, August 20, 2011

Social Butterfly

Late Friday afternoon, Caroline had a playdate with her good friends Daisy and JJ.  We sang, read, and had some snacks!  The girls had a little tea party before JJ came back from school.  At one point, JJ (who just turned 3), decided on his own to up and kiss Caroline!  He gently touched her hair and was so sweet to her.  He even reached for her hand to do "ring around the rosie."  I held her body so that she could participate in the circle and she LOVED it!  The kids all liked the part where "we all fell down!"  Daisy, 16 months, also held Caroline's hands to dance with her.  The afternoon was filled with cuteness.   


Her evening ended with another playdate!  Ethan came over to hang out. Caroline couldn't stop smiling when he first arrived!   

Wednesday, August 17, 2011

Caroline loves the playground!

Caroline had a lovely time in the new neighborhood playground right behind our house!


Tuesday, August 16, 2011

Meeting other Rett girls for the first time

We attended our first Rett Syndrome Natural History Study in New Brunswick, NJ. The clinic is a great way to meet with Rett experts, contribute to research, and spend time with other families. Younger children attend the clinic twice a year so we'll be taking Caroline back in February.

This first visit was focused on establishing a baseline for Caroline's progression and making sure we are getting all the right treatments, tests, etc. So far, she's had an MRI, an EEG, and a swallow study The doctor informed us that cardiac irregularities can be associated with Rett Syndrome so our next (and hopefully last test in a while) will be an EKG. We also answered every possible detail about Caroline's health and development going all the way back to her time in utero.  I've been keeping a weekly progress journal since Caroline started her therapies in January 2011 so we were able to provide a precise timeline of her development, including gain/loss of skills.  I hate Rett for taking so many things away from Caroline, but our hopes are high that Caroline will regain and develop (new) skills.   

We also got to meet Rett girls for the first time. When I first walked in the family waiting room, I found myself initially fighting back tears but then quickly feeling a sense of calmness and solidarity. Both Mike and I felt an instant connection to the families. Rett Syndrome is obviously an extremely variable condition, but I saw pieces of Caroline in every single one of the little girls and young women I met. I felt awe, love, and hope in their presence. Our girls, like all children, thrive on love and encouragement. They deserve to feel acknowledged and to know that we believe in their potential.

My heart felt pretty heavy for a couple of days after the trip.

Below are some pictures taken on the way up to NJ. Caroline is a great traveler! She slept for a little bit, but mostly, she enjoyed the view out her window, babbled to get our attention, and even "sang" for us at one point!

 A little video of the car ride

Tuesday, August 9, 2011


Monday was a good day. We began our morning at Early Intervention Services where Caroline got fitted for a stander (pictured below) and a pony gait trainer (a medical "walker" that looks like this). These are adaptive devices that will aid with the therapeutic benefits of standing and taking assisted steps. Caroline had fun trying out the various gait trainers and was tired from all the physical work by the end (in a good way!). She also got a special safety chair with a tray, which will come in handy for feeding, doing artwork, and playing with toys. Early Intervention services generously lent us these items for Caroline to use at home and at school. The gait trainer will be coming in a couple of weeks.

We recognize that Rett is unpredictable, but the last couple of weeks have been free of rapid and obvious regression. In fact, we've had some pretty awesome moments. As I've mentioned in previous posts, Caroline had lost all but maybe one or two words. But she never stopped trying to talk, even if all she could manage to get out were simple sounds or "raspberries."  Last night, she had low appetite because of some issues with her tummy. Grandmom was feeding her dinner and after a few bites, she blurted out "I'M DONE!" in a loud and clear voice.  She sealed her lips and refused any more food after that.  We all looked at each other like "Wow! Did she actually say that?!!"  It felt like a little miracle!

Our perspective has changed so much in just a few months.  We are grateful for being able to recognize and celebrate our own special milestones.  "Little" things (like hearing Caroline say a word or seeing her lift a toy for a moment) mean the world to us.  The best part is the proud look on her face.  

We are also thankful for the love and support from our loved ones, and for all the help Caroline is getting through therapies, school, and medical care.  We are full of hope!

Below are pictures of Caroline's with her Grandmom

Saturday, August 6, 2011

A good week

It seems Caroline has started to regain some skills.  These last 2 weeks, she has been doing things we haven't seen her do since she started to regress a few months ago.  She was able to do "arms up" a couple of times, which was very exciting!  She is also starting to roll around again and has even lifted her her tummy off the floor once or twice (a bit like a plank pose).  During her speech therapy sessions, she attempts to repeat most words by vocalizing the first letter or the general sound.  

As seen in the video below, she lifted her new bunny on her own for a moment! 

Her teacher at school shared that she has also noticed some improvements.  We are incredibly thankful to her teachers and her school in general. They have been amazing with Caroline during this period of change and adjustment.  Their commitment and love touches my heart. 

Another highlight from Caroline's week was meeting a pony up close and personal as part of summer camp activities!   I wish I had been there to see her reaction.

Friday, August 5, 2011

Video fluoroscopic Swallowing Study

Rett Syndrome brings on a wide range of health problems and developmental issues. Treatment and management of the symptoms requires a team of various doctors and therapists. In addition to her regular pediatrician, she also sees a neurologist, a geneticist, an ophthalmologist, a rehabilitation doctor, an orthotist, a physical therapist, and an early developmental specialist who focuses on speech and occupational therapy.  Some of them, she sees a couple of times a year, and others, she sees every week.  We are VERY grateful for all the care she is receiving. We know that the early intervention is going to make a big difference in the long run.  Next weekend, we'll be taking Caroline to a natural history study clinic for Rett Syndrome, where she will be seen by doctors who know the disorder inside out.

Today, Caroline also saw a speech pathologist and a radiologist for a Video fluoroscopic Swallowing Study
. The doctors didn't identify any significant problems with chewing, drinking, or swallowing the kinds of foods and drinks she normally consumes. There was one observation of aspiration of a small amount of liquid into her lungs when using a fast-flow sippy cup. However this is not an uncommon event for any toddler of her age -  Rett Syndrome or not - when using a sippy cup. This means it is not a medical concern and can be easily managed. We had already noted Caroline's difficulty with most sippy cups and stopped using them a few months ago anyway. The specialist gave us some good advice on how to transition from bottle to straw-drinking, which will permit Caroline to eventually learn to drink herself with minimal hand use, and also helps with further development and coordination of her lips and mouth. So with no real concerns at the moment, we felt great relief. 

Caroline wasn't allowed to eat for 3 hours prior to the test so she was starving by the time we got the hospital.  She kept making it pretty clear that she was hungry and she couldn't understand why we weren't feeding her already!  The speech pathologist mixed barium into all of her foods, including liquids and solids. Caroline was excited to finally eat and even seemed to actually enjoy the taste of the barium.  At one point during the feeding, we took a little break while her next food item was being mixed and she made it very clear that she didn't appreciate the pause!  We got to observe the video X-ray, which was actually quite interesting. We could see how she moved her tongue as she chewed and swallowed.  We could even see the actual food and liquid moving around in her mouth and then going down her throat. 

Below are pictures from today, taken before the test at the hospital and after the test at home.  

Monday, August 1, 2011

A remarkable and inspiring young woman named Karly

While waiting for a diagnosis, I did exactly what I was told not to do. I spent hours in front of my computer late at night looking up everything I could find on Rett Syndrome. I was desperately seeking information that would help me "rule out" the disorder as the possible reason behind Caroline's various symptoms. Unfortunately, I was always hit with the exact opposite as I read and watched videos related to the progression of Rett. The evidence was there--Caroline indeed fit all the criteria. I would sob in disbelief and continue my "internet investigation" until I got too tired or depressed to keep going. During the day, I was able to carry on as "normal" by occupying myself with work and taking of Caroline, but as soon as we put her to bed, I would be right back where I was the night before--glued to the computer searching for answers that would finally make this fear go away. For nearly a month, this late night habit became part of my nighttime routine and coping mechanism. I read a lot, watched a lot of videos, and cried a lot.

I now know that a lot of information I found--particularly around intelligence--was misleading and outdated. One medical website even listed Rett Syndrome as being "the leading cause of severe mental retardation among females." Aside from the terribly offensive nature of that term, I became increasingly frustrated by whatever measure was being used to determine the intelligence of people with disabilities in general. How can we possibly judge the intellect of a person who cannot speak, move their body, or use their hands? We have never once doubted Caroline's intelligence. Those of us close to her know that she's a smart, alert, and observant little girl who happens to be trapped in a body that has a hard time responding to her brain's commands. She shows us daily that she is very much capable of learning, just like any other child her age.

Even after we received the official diagnosis, I continued with my late night habit of internet searches, but this time, with the purpose of educating and preparing ourselves to better understand and help our Caroline. One night, I stumbled upon a website that confirmed what we already knew to be true.  I had found Karly's blog. She's a remarkable woman and talented musician in her twenties living with Rett Syndrome. I remember reading her blog for the first time and crying tears of hope! I showed the blog to Mike so that he could also read Karly's story in her own words. We were both in awe. After spending her childhood without being able to communicate her exact thoughts and desires, Karly and her mother found a way to unlock her voice through facilitated communication. Karly is a powerful advocate. By sharing her story with the world through her blog, she is giving girls like Caroline a voice that shows the true intellect of people living with Rett. Her blog also gives the world an insight as to what it's like to live with this condition.

Recently, I've had the great pleasure of connecting with Karly and her mother.  They are both kind, loving, and inspiring women.  Karly's and other families' stories help us move forward with hope.  I have no doubt that Caroline will be able to achieve reading and writing milestones just like typical children her age.  One day, she will be the one writing this blog and telling her story in her own words.