Caroline's Journey Living with Rett Syndrome: A Mother's Story...

Marta and Caroline Conner

Caroline was diagnosed with Rett Syndrome (RTT) in June 2011 at the age of 17 months. Rett Syndrome is a rare and debilitating neurodevelopmental disorder that mainly affects girls and interferes with their ability to use their hands, talk, and walk. Girls with RTT develop normally for the first 6-18 months before they lose these skills and begin repetitive hand movements such as wringing, clapping, or mouthing. Medical complications also include issues with chewing and swallowing, seizures, abnormal breathing, as well as gastro-intestinal and heart problems.

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. She hit all her milestones on time until about 6 months. She even said “mama” for the first time at 5 ½ months.

At 9 months, Caroline wasn’t crawling so her pediatrician suggested we contact Fairfax County Early Intervention services. After a couple of months of physical therapy, Caroline had finally developed the strength and motivation to crawl, but the coordination necessary to move forward was still missing.

At 15 months, we noticed that Caroline was performing a strange repetitive movement with her hands. It looked like “clapping” or clasping. The movements were subtle at first, but my heart sank the first time I noticed them. The repetitive behavior was a sign that we were dealing with more than just gross motor skill delays. In the following month, the movements became constant and Caroline began to lose the ability to use her hands to pick up objects, play with her toys, self-feed, and hold her bottle. Around this time, we noticed that she was losing her words. Communication had always been her strength, which made her regression all the more noticeable. Caroline also developed problems with chewing and swallowing. We had dark days filled with grief and anxiety as we watched Caroline struggle with the loss of these skills.

We received the clinical diagnosis for Rett Syndrome...a genetic test revealed a deletion in the MECP2 gene. The MECP2 gene, which is located in the X chromosome, regulates a protein in our brains that plays a role in basic coordinated movements that we otherwise take for granted, such as talking, walking, and using our hands. Mutations or deletions in the MECP2 gene disturb the function of those skills.

Caroline’s diagnosis caused an unexpected turn in our lives, but it also gave us a clear explanation behind her symptoms. We began educating ourselves and reaching out to all appropriate resources to ensure that we fully understand and meet her needs. Once a week, Caroline gets both early educational therapy (focused on speech, fine motor skills, and play) and physical therapy. Caroline is still unable to crawl, but she is working hard on standing and taking steps with assistance. She is making slow but steady progress every day! Caroline also goes to a wonderful private daycare four days a week. In September 2012, after Caroline turns 2, she will transfer to the public school system, where she will continue to receive various therapies while also benefiting from an individualized education program.

Rett Syndrome prevents Caroline from expressing herself and moving the way she wants to. The disorder, however, doesn't affect Caroline's intelligence or her ability to love. She is an affectionate and sweet baby. She says so much with her eyes, and is very observant and engaged. She understands everything we say to her, even though she struggles to communicate back to us. Caroline is not to be defined by her missed milestones, but by her strength and sweet spirit.

Caroline’s family, doctors, therapists, and teachers are all committed to working on helping her preserve her skills and continue to make progress in all areas of development. We are dedicated to giving Caroline a rich and happy life.

Rett Syndrome Facts

1 in every 10,000 girls are born with Rett every single day.
Caused by a spontaneous gene mutation in the X chromosome.
The leading cause of impairment in girls—most cannot speak, walk, or use their hands.
Girls develop normally for the first 6-18 months before they lose these skills and begin repetitive hand movements such as wringing, clapping, or mouthing.
Medical complications also include issues with chewing and swallowing, seizures, abnormal breathing, as well as gastro-intestinal and heart problems.

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