alienathe

What was your reaction when you heard your voice for the first time? Your laugh?

I've always considered Rett Syndrome to be a funny thing, possibly because I used to know nothing about it despite attending school and family events with children with Rett, or growing up with my sister who was born with Rett.

You should read more about Rett Syndrome here: http://www.ninds.nih.gov/disorders/rett/detail_rett.htm)

We've only discovered the main Rett Syndrome gene (MECP2) in 1999 and in 2006 six scientists confirmed that this disorder can affect boys as well. (http://www.sciencedaily.com/releases/2006/08/060812090802.htm)

Rett Syndrome can affect boys. It is a very rare case but it is possible. My sister went to a school for mentally and physically handicapped children and my parents were able to meet another couple who had two children with Rett Syndrome, a boy and a girl. My parents were also part of the French Rett Syndrome Association (I grew up in France) and over the years I met a lot of children suffering from this disease, a majority of whom were girls but there was a (very) small handful of boys.

Not much is known about Rett Syndrome and it seems to be hidden in the background of our everyday life. My sister died when she was 14, I 11. For the first 11 years of my life I was immersed in a culture where I was able to meet families with mentally and physically handicapped children, families who also had a child who suffered from Rett Syndrome. I thought this was normal, that these children were often seen. Then when my sister died, my parents left the association and kept in contact with a few friends.

In the last ten years, the only people I've seen with Rett Syndrome are my parent's friend's children. I haven't heard anyone talk about the disease nor read anything about it since then, unless I initiate the conversation about my sister first. No one seems to know about this neurodevelopmental disease and it's nice to see other people sharing their stories. :)

Can you give me an anecdote, a memory, a funny story that you have of you and your sister?

td;lr We should talk about Rett Syndrome!