Monday, April 30, 2012

My first glimpse of Rett Syndrome

A year ago today, I saw my first real glimpse of Rett Syndrome. Caroline and I were playing on the floor when I noticed something that made my heart sink. She "clapped" her hands once and then stared at them as if she was discovering them for the first time. What I saw very subtle and quick, but in that moment, I knew that something had permanently changed.

I spent that entire weekend obsessively monitoring Caroline's hands. In just two days, that first "clap" had turned into frequent clasping and clapping. I didn’t know what I was seeing, but I had an awful gut feeling that it was serious. I took the video below to show her pediatrician.

Two days after her hand movements began, we went to see Caroline's pediatrician. Dr. H spent a long time evaluating her and asking questions about the functional use of her hands. At that point, Caroline was still able to play with her toys and self-feed. There are moments about that visit that stand out in my mind. I remember Dr. H removing her necklace and handing it to Caroline. I remember my stomach turning in knots as Caroline struggled to manipulate and hold the necklace in her hands. It suddenly dawned on me that she had indeed started dropping smaller toys recently. I remember Dr. H measuring her head circumference and noticing a decrease in growth rate. I also remember her asking about the frequency of her teeth grinding, which we had always attributed to teething. A few months earlier, she had encouraged us to seek Early Intervention services when she noticed Caroline was beginning to fall behind on the development of her gross motor skills. As it turned out, all these symptoms were related. And together, they were pointing to Rett Syndrome.

Dr. H expressed concern about the possibility of the disorder and referred us to see a neurologist immediately. She didn’t want to alarm us so she limited what she said about Rett, explaining that the severity varied from girl to girl. When I asked more questions, she suggested we not worry or focus too much on it yet. She also advised us against looking it up on the internet. But as soon as I got in the car, I did exactly just that. I googled “Rett Syndrome” on my phone. I started reading the symptoms and progression out loud so that Mike could also hear. We were in disbelief. We kept going over the symptoms, shaking out heads, and repeating “there’s no way she has this."

That visit marked the beginning of a number of consultations with various specialists. Our hope was to "rule out" Rett Syndrome. Unfortunately, the evidence was quickly mounting. By the end of the May, Caroline had lost most functional use of her hands. The “clapping” and mouthing had become constant. The teeth grinding was also constant. She stopped saying words. She also began struggling with chewing and swallowing. In June, Caroline's geneticist confirmed what we already knew when he gave Caroline the clinical diagnosis for Rett Syndrome. In July, the blood test results revealed the molecular explanation: a large deletion in the MECP2 gene located on the X chromosome.

It's hard to believe it’s been a year since we first stepped foot in “Rettland.” In some ways, I can't really remember what things were like before we knew Caroline had special needs. We are now part of a world we knew nothing about a year ago. This world has its own language and way of life. This world forces you take a closer look at your priorities. It gives you no choice but to live one day at a time. It connects and bonds you to people (other Rett families, caretakers, therapists, teachers, etc.) in ways you never thought possible. I've often heard the expression "joining the Club" to describe becoming a parent of a child with special needs. I'm proud to be a member of that club.

Friday, April 27, 2012

Special Education

In September, Caroline will begin a special education preschool program through our county’s public school system. At that point, she’ll transition out of her current private preschool, which she’s attended since she was 4 months old. This week, we took a major step towards that transition with the completion of her Individualized Education Program (aka IEP—to learn more, please click here).

For us, the decision around childcare had been clear and definite even before Caroline was born. We wanted to send her to a high quality daycare/preschool where she would benefit from a stimulating learning environment around children her age. We love Caroline’s current school. Our plan was to keep her there through Kindergarten. Unfortunately, most private preschools lack the necessary resources for children with disabilities as severe as Caroline’s. When Caroline was diagnosed with Rett Syndrome, we developed an informal agreement with her school to pull Caroline out if the arrangement was no longer the right fit for all involved. Despite the extent of her needs, Caroline will most likely stay at her current school until September thanks to her full-time nurse (we ADORE her!). The nursing assistance is provided through Caroline's Medicaid waiver, a benefit based on her medical condition and degree of disability. We are relieved that things have worked out so far because keeping Caroline at home until the Fall would have been devastating to her social emotional development.

As I’ve mentioned before, Caroline also benefits from Early Intervention services. These services are geared towards infants and toddlers who have developmental delays or permanent disabilities. Caroline’s enrollment in the county’s special education preschool program will also mark her graduation from Early Intervention. The eligibility process for special education culminated in the establishment of an IEP. IEPs are intended to help children like Caroline succeed in school by determining specific educational goals and needed supports to help achieve them. Caroline’s IEP includes communication, cognitive, and motor goals. Supports will include physical, speech, and occupational therapies, as well as assistive/adaptive equipment. 
We truly felt that the team involved in the development of Caroline's IEP had her best interest at heart. Caroline will go to school for a half-day program 5 days a week. 

In the spirit of full disclosure, I have to admit that the process of figuring out childcare and education needs for Caroline has been stressful and sad on a number of levels. I was struck by the reality that mainstream daycare is not available for families like ours. Consequently, Caroline will no longer be around her typical school friends who 
engage her and model behavior and skills for her. Also, I'm concerned about the possible implications of Caroline's disability on the future of her education. Nevertheless, these feelings don't supersede the fact that we are very pleased with our first IEP process and outcome. I feel we're off to a good start! 

Here’s a picture of Mike helping Caroline draw a picture with cool crayons her Auntie Emily and Mr. Drew gave her. The crayons go on her fingers like rings, enabling better control and more independence.

Sunday, April 22, 2012

Chatting with Caroline

Here's a little video of Caroline chatting with me about her day. Our big goal for this year is to establish a defined response for "yes" and "no."  Those two little words will open a whole new world for us in terms of communication!

For now, we look to her eye gaze, vocalizations, and tone to figure out her needs. These wants are becoming increasingly sophisticated and sometimes harder for us to guess. For example, she'll want to listen to a specific CD, watch a DVD, or move to another part of the room. Our method is trial and error. The more wrong guesses, the more likely we are to see Caroline's mostly hidden "inner 2-year-old" peek out. The funny thing is that I'm actually reassured by her occasional feisty side. It's an indication that she has expectations. It also tells us that she has not given up on trying to communicate with us despite her inability to speak.

Tuesday, April 17, 2012

Pilot study shows that girls with Rett Syndrome are smart

This article confirms what I already knew to be true. Caroline understands everything that she sees and hears. How can we possibly judge the intellect of a person who cannot speak 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.

Please click on the title link below to read more about the study. 

Cognitive Abilities of Rett Syndrome Patients have been Underestimated for Decades

Sunday, April 15, 2012

Puppet show date with friends

This morning, Caroline had a date with her friends JJ and Daisy to see the Old McDonald's Farm puppet show at the Puppet Co in Glen Echo, Maryland. I can't say enough about how much their friendship means to us. Caroline thrives because of these sweet (and adorable!) interactions. 

Caroline was unusually tired and serious all morning. When the lights dimmed, I said "Caroline, we're going to watch a show!" and she gave me the biggest smile. As soon as the show started, she perked up. She was quite an active audience member too--laughing, vocalizing (loudly!), and being completely focused the entire time! We loved watching her enjoy something so much.  

Here we are outside the theater

After the puppet show, we took Caroline to one of her favorite restaurants. As usual, she knew exactly where we were the minute we entered the diner. She laughed and shrieked in delight!

Thursday, April 12, 2012


The quote below really resonates with me. I've seen it a number of times and thought I'd share it.
“I thought I would have to teach my daughter about the world. 
It turns out I have to teach the world about my daughter."  - Unknown

Sunday, April 8, 2012

Jogging with Caroline!

This past week, I started running again for the first time in a couple of years. My ultimate goal is to run a half marathon for Caroline early next year. 

Mike suggested we get a jogging stroller so that the three of us could go on runs together. Today, I took Caroline out with me for the first time. She absolutely LOVED it! She laughed and kicked her legs in delight almost the entire time. Her enjoyment motivated me to push through my run, which I was more challenging than I expected.

The BOB Ironman stroller is awesome, but I still haven't figure out proper form to avoid unnecessary tightness around my shoulders and neck later on. I have a long way to go with my training!

Tuesday, April 3, 2012

How I feel around typical children

I've been meaning to write about a somewhat sensitive issue for a while. After sharing the Huffington Post blog about what it’s like to parent a child with special needs, a number of friends asked how they could be supportive to us. Some even revealed that they didn't always know what to say to us (which I really appreciated). This week, while offering kind words of support, someone shared that they knew I probably felt bad around their young child. It's a bit depressing to recognize the reality that our situation may be causing people we care about to feel uncomfortable around us..or that they may assume we feel bad about Caroline around other children (we don't).

I think sorrow is nuanced. And although I felt nearly every word Maria Lin wrote in her blog post, I was never sure about her second point: I am Jealous. I've been giving that part a lot of thought, but wasn't comfortable sharing my own experience until now. The truth is that I don’t feel jealousy around typical children. I don’t feel bad that my child has special needs. This may surprise and even upset some, but I never find myself wishing Caroline was a typical child. She is no more or less than anybody else. We hate that she has to struggle so much, but we can't change who she is. In fact, we adore her as she is. I can't imagine comparing Caroline to another child, and feeling that I am missing out. Some may think I'm in denial. I believe I'm just a proud mother.

Did I ever feel sad around typical children? Yes. My heart completely broke when Caroline went through the worst stage of regression about a year ago. Seeing children running, playing with their toys, talking to their parents, or even feeding themselves was beyond painful. Everywhere, I saw reminders of all the things Caroline was quickly losing. But those feelings didn’t stick around for too long. I needed to get over the shock of the initial diagnosis. I needed to figure out how to navigate this new world we were about to enter. Once I got over mourning for the child I thought we had, I began to cherish Caroline for who she really The odd thing is that I never once felt bad around children I knew...probably because we were surrounded by a great deal of support and love. In fact, being around children I know brings me a great deal of joy. I love watching Caroline's happiness when she's around her friends. And my heart melts with how sweet even the littlest ones treat Caroline. Their interactions are adorable, funny, and touching.

There are certain things that do make me feel bad… even drained sometimes. Our society places a great deal of importance on a very specific set of milestones and accomplishments. An individual’s worth is then based on their ability to achieve these goals within a certain time frame. Some parents can get wrapped up in how their child is measuring up, often resulting in passing remarks tinged with a bit of underlined competitiveness. Children sometimes end up becoming a measure of their parents’ own success. I tend to tune out such conversations. I just can't relate...and don't want to.

I also feel bad when I hear thoughtless comments that draw comparisons to things Caroline is unable to do. "I'm glad the infant phase is over because you get so much more out of them when they're talking and doing their own thing." "I’m so glad I don’t have to feed her anymore so that I can eat too!" "I'm relieved that he can finally entertain himself." Caroline inadvertently becomes a representation of what some judge as undesirable, which really hurts my heart.

I struggle to explain my feelings because there are no clear cut lines. Emotions are definitely heightened. The sweet moments and dark moments are felt more deeply. Although I am positive and happy most of the time, there are times in the year when I experience triggers that bring up feelings of sorrow again. Specifically, I don't look forward to holidays since Caroline's diagnosis. I also don't look forward to her birthdays. These dates remind me of the painful aspects of having a child who can't take part in “traditional” activities on her own. They also remind me that time is passing by and that I have a child who may not live to be 20.

But please don't pity us. We are happy proud parents of a beautiful little girl. Our household is filled with love, laughter, and humor. We strive to live in the present. And the present is beautiful.

Monday, April 2, 2012

Trying on SPIO (Stabilizing Pressure Input Orthosis)

Ms. K, Caroline's awesome physical therapist (who always goes above and beyond her call of duty!), got us a spot at a SPIO demonstration/training. Caroline was still tired and sick, but she perked once she got on "stage" in a room filled with orthotists, physical therapists, and occupational therapists. Caroline was very cooperative and won many hearts today. The SPIO suit made her look like a little super hero.

Here's a description of SPIO from the brochure (more information is available on the SPIO website):
 SPIO™ dynamic bracing systems are made of a special lycra blend material that provides a multi-directional stretch with a strong rebound factor. SPIO™ is designed to assist stability and provide feedback through deep pressure and tactile stimulation. The patented compression ratios and design improve functional movement possibilities, limb and body position sense, and general stability and balance for children. Some diagnoses SPIO™ is effective for are Down, Rett & Angelmans syndromes; Cerebral palsy; Sensory deficits; Autism; Hypotonia.
SPIO™ was designed by Cheryl Allen (a mother of two children with tone, motor, and severe sensory deficits) and Nancy Hylton who is a Physical Therapist, licensed Orthotist and the mother of a son with cerebral palsy.
Caroline tried on the long-sleeve shirt, pants, vest, and gloves. The entire SPIO suit made a huge difference in helping correct Caroline's posture. The SPIO suit also helped decrease Caroline's  involuntary leg and arm movements. Surprisingly, she seemed pretty calm and happy in this ultra tight (and seemingly uncomfortable?) outfit.

Below are some pictures of the demonstration.


Ms. K also got Caroline a bath chair on loan until she gets her own. Bath time is now MUCH easier and safer!