A girls' day with Auntie Emily

Auntie Em came a long way to visit us today. Caroline was all smiles and giggles from the moment she woke up from her nap and saw her auntie sitting next to her.

Emily and I took Caroline to the mall for lunch and some shopping. We had a great time!  We even lost track of time and had to rush home so that Caroline could start her nighttime routine.

I couldn't resist getting some cute matching sandals and hair barrettes for Caroline. I like to give her a break from her ankle braces once in a while (usually on the weekends). I imagine her feet must get warm and maybe uncomfortable in the braces after wearing them all day, especially in the summer.

Standing out

Caroline's maturity and cognitive skills are developing on target. Her social-emotional skills are ahead. She's growing up. She's not a baby anymore.

I'm realizing that as Caroline grows up, her "differences" are becoming more obvious to others now. I sometimes catch strangers staring at us. Sometimes, these are curious stares...sometimes, these are sad stares...sometimes, these are uncomfortable and nervous stares. I often pretend I don't notice, even when I'm annoyed or overcome with "mama bear" protective feelings. I guess they notice things I don't really see anymore. Caroline rocks, wrings her hands, vocalizes loudly, and is not ambulatory.

These "stares" don't make me want to hide. In fact, I'm happy to do my part to help society get over their discomfort with individuals who are "different." One of the reasons I decided to write this blog was to help break the stigma against people with disabilities. I also wanted to put a face to a disorder most people know nothing about. My hope is that individuals like Caroline will soon be guaranteed full and long-term inclusion in our communities.

I'm not going to lie though. Life is too short. I prefer spend my free time with people who understand Caroline and don't feel sorry for her (and us). I'd rather be around people who don't make us feel "different." Lucky for us, we are blessed to have such people in our lives.

Caroline's first "wheelchair"

Caroline's bath chair and mobility chair (aka adaptive stroller or wheelchair) arrived last week. The chair will enable Caroline to be lifted onto her school bus in the Fall. More importantly, it promotes better positioning. Caroline slumps and/or slides down in regular strollers.

Receiving this adaptive equipment was bittersweet. I'm incredibly grateful that Caroline has access to equipment that will greatly increase the quality of her life (and ours). But a little part of my heart hurts that she needs these things.

On the bright side, Caroline seems to really like her new chair. She is calm and happy in it. Her involuntary movements seem to decrease too.   

Getting this chair has made us realize that we need to start the process of getting a handicap placard. There isn't enough space to get Caroline out of the chair and into the car if there's another car parked next to us. 

Caroline in her new Convaid Mobility Chair 

Unfortunately, the bottom piece for the bath chair doesn't fit most standard bathtubs. 

Caroline is drinking from straw cups!

Caroline has learned to drink from straw cups! We've been working on this skill for more than a year now.  We started training her with the honey bear straw cup, which is designed for children with special needs. I have to credit Mike for helping Caroline achieve this recent milestone.

Below are pictures of Caroline showing off her skills to her abu (my mom)

Talking to young children about Caroline

The following post is written by my dear friend Sherry. She is one of the most supportive and generous people I know. I also look up to her as a mother. She always knows the right things to say, no matter how sensitive or difficult the issue. I especially love the way she talks to her children about Caroline. I recognize that it's not easy to talk about Rett Syndrome to young children, but Sherry does it with such honesty and kindness.

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Written by Sherry

My kids, JJ and Daisy, have known Caroline practically since she was born. My son always says, “Caroline is so pretty and sweet. “ He has such good taste.

We get-together with Caroline’s family regularly.  At the museum, puppet theatre or one of our homes, we cherish these playdates.

Recently, Marta asked me to write a blog post on how to talk to young children about Caroline.  I felt unsure at first.  What do I know that can be helpful to others? I am still learning, too.  I felt honored at her request though, and embraced the opportunity to do something for Marta.

It’s amazing how perceptive toddlers can be about the world.  They are curious and love to explore and engage with their friends.  Questions about Caroline have popped up in house, even at 3 years old! I imagine my kids’ questions will only increase as their relationship with Caroline grows.  

While I don’t claim to have all the right answers, here are a few nuggets from our experiences I can share with you.

1. Always respond to your young children’s questions directly, and perhaps with a question.  This helps kids make sense of their world. Here’s a recent conversation I had with my son, JJ (3 ½).

JJ:   Is Caroline a baby?

Me: Caroline is the same age as your sister, Daisy. Is Caroline a baby?

JJ: No, she’s a little girl like Daisy.

2. Age-appropriate honesty. It’s hard to know how much information to give, but in our conversation below, I didn’t think JJ was ready for more.  Instead, I wanted to focus on how Caroline expresses herself.

JJ: Does Caroline not talk because she’s shy?

Me: No, Caroline loves to laugh, smile, and hang out with her friends.

3.  Young kids want to explore and learn about Caroline’s world. That means learning about and touching (with close supervision) Caroline’s special equipment that helps her get things done. Her hand-made arm brace and little lamb shoe inserts were of special interest during our last visit.  Marta patiently let my kids hold the foot inserts and ask questions. 

4. Finally, speaking from the heart will take you far.  Try to answer questions in a way that strengthens a connection between young children, rather than sets them apart.  It’s pretty easy to talk about Caroline, JJ and Daisy’s similar interests: hearing stories, seeing puppet shows, drinking smoothies, listening to live music, or simply holding hands and rocking back and forth on the bed together.

Most young children share a love for music. I hope one of our next excursions with Caroline will be to Jammin Java to hear some Tot Rock.

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Written by Marta

I value the way Sherry encourages JJ and Daisy to find things in common with Caroline to show that they are more alike than different. I often watch in awe as she takes various opportunities to demystify Caroline's condition. JJ and Daisy are incredibly sweet to Caroline. They approach spending time with her as they would any other child her age. Caroline LOVES them (she is all smiles and giggles around them!).

I greatly appreciate Sherry's willingness to share her experience. It meant a lot to me. I hope others find it helpful. 

The International Rett Syndrome Foundation has a wonderful children's coloring book explaining Rett Syndrome. Please click here to download the short book.

Below are some pictures of Caroline's friendship with JJ and Daisy.

JJ meeting Caroline for the first time (January 2010). Daisy is in the picture too!

Caroline, Daisy, and JJ watching a video (January 2011)

Caroline and Daisy smiling at each other (May 2011). This picture was taken  a year ago when Caroline started quickly losing skills. She was diagnosed with Rett Syndrome a couple of weeks later. 

Busy weekends=Happy weekends

A happy weekend for Caroline is usually a busy weekend filled friend visits, brunch outings, and trips to the grocery store. Trips to the grocery store? Yes, a trip to the supermarket or Target usually brings out lots of smiles and giggles (who knew?). Caroline thrives on social interactions.

This past weekend, we visited a Rett family near and dear to my heart. Their daughter Alice is a smart and beautiful 6-year-old who happens to look a lot like Caroline (they could be sisters!). Alice is just the sweetest. She's got such a great sense of humor too! Spending time with Alice and her family felt like therapy to me. I'll never forget the way her mom generously extended her friendship and support when Caroline was diagnosed with Rett Syndrome. I've said this many times, but meeting my fellow Rett mom friends has been a real lifeline.

Caroline also had a playdate with JJ and Daisy. I've known their mom for a very long time. Sherry has cheered for me during the good times and held my hand during the tough times. When Caroline was diagnosed, Sherry encouraged me to contact Girl Power 2 Cure as a great resource for family support. When I was finally ready to take that step, I contacted Kelly Butler who put me in touch with the families in my area.

I am very thankful for these friendships (old and new!).

Caroline and Alice :-)

 

JJ serenading Caroline

Caroline and Daisy

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 got 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.

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.

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.

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