when you start a family, you have this preconceived notion of what life is going to be like. i admit that i’d never really thought about having a child with special needs, you never think that it would happen to you and your child. i think alot of people are still really really scared about the idea of raising a child with a genetic disorder, there’s this huge stigma attached to these kids that they’re “doomed” and you’ll be ushered away to live your life in a corner somewhere.
but i want to write this to let you know that today we are doing okay.
when you are given a diagnosis like Rett Syndrome, the grieving period never ends. it’s what they call ‘chronic sadness’. eventually you find your new normal (living with this chronic sadness), and you go with it.
so while it might not be ‘ideal’ to be sourcing for paediatric wheelchairs, testing out the newest range of one-way straws, deciding the best way to manage seizures, checking that your child hasn’t passed out and checking whether you can fit an eye-gaze board into your handbag – there’s still a tonne of good to be experienced in this world and when it’s good, it’s REALLY GOOD.
I’ve been meaning to make a new video about Jovie and Rett Syndrome, so luckily last night my software decided to work and I put this together –
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.
