Rare Disease Story: Isabelle

Rett Syndrome

This is Isabelle. She is 8 years old and has Rett Syndrome. Rett Syndrome is a rare genetic condition that affects almost exclusively girls and includes symptoms of Autism, Epilepsy, Parkinson's syndrome, Cerebral Palsy and anxiety.

Isabelle “Izzie” Knowlton came into the world on October 29, 2004 to join her siblings, Emily and Tom. She was small at birth and the nurse exclaimed “What a little peanut!”.  Peanut has stuck ever since. After 6 days of life, Izzie gave us quite the scare; she was blue in her crib. We know now that was her first seizure. After a week in the hospital with lots of tests, she went home with a heart lung monitor and oxygen.

Most girls with Rett Syndrome progress normally and between 9-18 months they regress much like an Autistic child. However, they continue to lose skills and develop symptoms of Cerebral Palsy. Isabelle is A Typical in that she never had developed milestones. At 8 months, she was not rolling over or sitting up. At that point, we decided to take action. We were huge fans of the movie “Mr. Holland’s Opus” and became convinced she could not hear. It took 16 audiologists before we were convinced there was nothing wrong with her hearing. We moved on to a behavioral developmental specialist who gave us a clinical diagnosis of Angelman’s Syndrome.   A few months later, she scared us with her first recognizable seizure:  A grand mal.  Back off to the hospital for another long stay. After 2 years of testing, and little developmental progress, we learned she has Rett Syndrome.

In the time since then, Izzie has lost the ability to swallow foods on her own, and the muscle tone to chew anything. She was placed on a feeding tube, which is common in Rett, and has been doing very well with it. She is wheelchair bound and is learning to use her eyes to communicate with a computer. We have found that she has a wonderful sense of humor and a strong will. Izzie is very smart girl who loves flirting with her sister's boyfriend, baby dolls and the color pink.  Everyday we see more of her personality coming out. She loves music and dancing, Dora the Explorer, and puppets.

Isabelle is a trooper; she was featured in a television segment in Canada as a spokesperson for Rett Syndrome (and got to go swimming with the dolphins for the shoot!). This Thursday is Rare Disease Day and we celebrate all those diagnosed and those yet to be. For more information on Rett Syndrome, please visit www.rettsyndrome.org.