October is Rett Syndrome Awareness Month (it’s also Breast Cancer Awareness Month, Down Syndrome Awareness Month and I’m sure a few others!) and I thought I would post something about Rett Syndrome, Jovie and our family to help answer questions and bring some awareness to this disorder.
Before last year, I knew nothing about Rett Syndrome and I will spend the rest of my life learning about it as we go along. Learning about genetic disorders is strangely interesting to me, I’ve never been a science buff but learning about behaviour and how our genes control that is fascinating … ANYWAY
We could probably write 50 Shades of Rett Syndrome and still be short by about a thousand degrees…
What is Rett Syndrome?
Rett Syndrome is a rare neurodevelopmental disorder that mainly effects girls. It is an X-chromosome-linked disorder, a random genetic condition with no known cure.
Previously known as a degenerative disease, Rett Syndrome typically progresses in 4 stages – early onset, rapid destruction, plateau and late deterioration. The first symptoms of Rett Syndrome usually show between 6-18 months of age. Symptoms can include loss of hand skills, loss of speech, loss of motor skills, teeth grinding, hand/finger wringing, breath holding, hyperventilation, seizures, scoliosis, low muscle tone and inconsolable crying.
Rett Syndrome is diagnosed through a DNA test by testing the gene called MECP2.
Children with Rett Syndrome suffer from apraxia – which is the inability to carry out body movements (like eye gazing, walking or even sometimes breathing). This is often called the most disabling part of Rett Syndrome because they are ‘trapped’ within their own bodies.
There is so much I can write about Rett Syndrome, but that is the medical definition of the disorder I will be writing about the cure for Rett Syndrome, living with Rett Syndrome and other things that pop into my head as the month goes on.