Sunday, June 26, 2011

Caroline’s Hands

A hallmark of Rett Syndrome is the repetitive hand movements and loss of hand skills. Looking back at older videos and photos of Caroline holding her toys or self-feeding often brings me mixed emotions. I love watching these images because they forever capture precious moments in her infancy.  At the same time, I often feel a deep ache in my heart because I realize what she has lost and how much we took for granted.  Below is the last time we captured in video Caroline showing purposeful use of her hands (taken on Easter day 2011): 

Caroline had always struggled with her pincer grasp so up until the time of the video, instead of appreciating what she had, I was focused on the development of her fine motor skills.  I learned a valuable lesson. With Rett syndrome, it’s hard not to worry about the next decline or lost skill, but I’m now doing my best to really be “in the moment” and appreciate and savor the little things she is able to do. Caroline makes that a lot easier.  She has an incredible ability to really draw us into her world.  Spending time with her melts a lot of the sadness away.

This blog entry is a bit difficult for me to write because I really do try not to focus too much on what is lost, but I felt it was important to explain this effect of Rett. Caroline is still a happy child.  She appreciates some of the solutions we’ve found to help her continue to enjoy playtime.

Friday, June 24, 2011

Caroline's "Likes"

Every morning, Caroline wakes happy and smiling, often babbling and laughing at the animals in her bed. Four days a week, she goes to a wonderful preschool, where she gets to be with her friends and do a lot of her favorite activities including art, singing, reading, and playing outside. Reading has been a favorite from the very start. Her teachers say her favorite spot in the classroom is by the books.

Caroline enjoys music (especially daddy’s guitar playing) and lunch dates. She is a foodie and has never been to a restaurant she didn’t like! She looks forward to trips to the grocery store or Target, giggling and smiling as she rides in the shopping cart and learns the names and colors of the different things she sees. Caroline also loves the water and enjoys her swimming lessons, which she attends every Saturday with mommy and daddy.

On Mondays, Caroline gets both early educational therapy (focused on speech and play) and physical therapy (PT). We get assigned specific “workouts” to do every morning and evening until the next session. PT is challenging for Caroline, but she pushes herself and gives her very best.

Caroline adores her family and friends and melts our hearts with kisses. These last 6 months, a great deal of energy was spent looking at Caroline’s delays and various symptoms. Now that we have clarity, we understand her better and have a greater appreciation for the incredible person she is. Caroline will not be defined by her missed milestones, but by her strength and sweet spirit. 

Video of Caroline "discovering the vent," May 2011

The Road to the Diagnosis

Caroline was born in January 2010. We were in love the second we met her. She was sweet, bright, easygoing, and observant from the very beginning. Caroline’s birth weight was a bit on the lower side at 5 lbs 11 oz, but aside from having to work a little harder at getting her weight up, the early infancy stage was easy and uneventful. She hit all her milestones on time until about 6 months. She even said “mama” for the first time at 5 ½ months.

Around 7 months, we noticed that the development of her gross motor skills had slowed down a bit, but not enough to raise serious concern. Caroline’s growth rate went from the 1st percentile at birth to the 90th + percentile by the time she was 6 months so we figured her slight delays in crawling were an issue of being a bigger baby and hating “tummy time.” In fact, in spite of keeping her off her back by repositioning her during sleep and pushing for tummy time, she ended up with a bad case of plagiocephaly and brachycephaly (aka “flat head” syndrome). She was in a Doc Band for 4 months to help improve the shape of her head.

At 9 months, Caroline still wasn’t crawling so her pediatrician suggested we contact Early Intervention services. Her evaluation was conducted at 11 months and services began a couple of weeks after her first birthday. Before she started physical therapy, she could stand with assistance for a couple of seconds, but was pretty much confined to the sitting position without being able to reach to her sides. Three months into therapy, she was: standing for long periods with support; rolling to get to things; creeping backwards and sideways; getting up to sitting with minimal assistance; and pulling up to standing with help. Caroline had finally developed the strength (and motivation!) to crawl, but the coordination necessary to move forward was still missing.

In mid-April, at 15 months, Caroline began a repetitive movement with her hands that involved “clapping” and clasping. These movements were subtle at first, but my heart sank the first time I noticed them. The repetitive behavior was a sign that we dealing with more than just gross motor skills delays. We started consulting with different specialists and learned about the possibility of Rett Syndrome. We were stunned and in disbelief when we read about the horrific progression of the disorder. Still, we held hope that we were simply in the process of ruling out the “worst case scenario.” We desperately wanted to believe that her issues were due to her inability to crawl or walk and explore the world like a typical 15-month-old. In the following month, the movements became constant and she began to lose the ability to use her hands to pick up objects, play with her toys, self-feed, and hold her bottle. We also noticed that she had lost almost all of her words, including “mama” and “dada.” She was verbal early on and communication had always been her strength. Mike and I had very dark days filled with grief and anxiety as we watched Caroline struggle with the loss of these skills.

Today, Caroline was diagnosed with Rett Syndrome based on clinical observation alone. We are currently undergoing a series of tests to determine the underlying genetic cause for her condition. It’s hard to describe the level of sorrow we feel and will probably continue to feel for a long time. Caroline’s health is compromised and the future we had envisioned is suddenly crushed. We are facing an unexpected and painful turn in our lives, but Caroline gives us strength. She is a loving little girl who fills our hearts with love and joy. We are surrounded by the love and support of family and friends. We have wonderful doctors, therapists, and teachers working with Caroline so that she can continue to work on preserving skills and make progress in all areas of development. We are also educating ourselves and reaching out to all appropriate resources to ensure that we fully understand and meet her needs. Caroline is going to have a happy and rich life filled with tons of love.

We just need to keep working on reprogramming our expectations and definition of “normal.”

Pictures of Caroline from a trip to Ocean City, MD in early June 2011