October is Rett Syndrome Awareness Month!!!

Welcome to the first installment in the Rett Syndrome serious 2008. Do you know our story? A quick recap: Caitlyn was born on August 5, 2003 at 10:20pm. She weighed 7lbs .02 ounces. (exact weights...) She was a beautiful baby girl with a head full of dark curly hair. Two days later we took her home. Everything proceeded normally, or so we thought. We look back now and see things that are now considered red flags. Caitlyn was a very quiet baby. She didn't even cry when she was hungry! We had no clue that this was a sign of things to come. Caitlyn's large motor skills developed slowly, but wasn't a huge concern. She started walking at 18 months, but was pretty unsteady and had lost the 5 words she once had. We first heard the words Rett Syndrome on December 3rd, 2005. The doctors were testing her to rule out the Syndrome. We had no clue that 6 weeks later we would be sitting in that same office hearing that our baby did indeed have Rett Syndrome.

So that is a brief overview of our story. You might ask "What is Rett Syndrome?"

Rett Syndrome (RS) is a neurological disorder often misdiagnosed as autism, cerebral palsy or non-specified developmental delay caused by a defective regulatory MECP2 gene, found on the X chromosome seen almost exclusively in females. Unlike females, who have two X-chromosomes, males have an X and a Y chromosome. Because males lack a "backup" copy of the X chromosome that can compensate for a defective one, mutations in MECP2 are lethal to the male fetus. This is why RS is found overwhelmingly in females. Rett Syndrome occurs in a variety of racial and ethnic groups worldwide now known to occur from 1:10,000 to 1:23,000 female births, but incidence may be far greater as new genetic evidence is discovered.

Development appears normal until 6-18 months of age followed by loss of acquired speech and hand skills, slowing of head growth and development of stereotyped repetitive hand movements, loss or difficulty with mobility hand movements include handwashing, hand wringing, hand tapping, hand clapping and hand mouthing. Stereotyped hand movements may change over time and additional problems may include seizures, breathing irregularities (hyperventilation and apnea), teeth grinding and curvature of the spine (scoliosis). 99.5 % of cases of RS occur only once in a family. Barring illness or complications, survival into adulthood is expected.

This month I will be doing a series on Rett Sydrome and our family. Join as I share our most deep and private struggles with this devastating syndrome. I will also share the happy moments, and the positive effects Rett Syndrome has had on our lives. If you find yourself asking "what can I do to help?" stay tuned.