October is Rett Syndrome Awareness Month.
This has resulted in some great awareness raising campaigns being started on facebook – check out #rettfriendships or #realliferett, or just #rettsyndromeawarenessmonth to see what people are sharing.
There are pictures of beautiful girls whose lives have been so severely impacted by the symptoms of this, the world’s most common genetic disorder in children after Down Syndrome.
This seeming dichotomy offers an excellent opportunity as well as some significant limitations.
Because it is so rare, there isn’t a lot of funding being put towards research for treatment and cure.
On the flip side, as the largest population of genetic neurological disorders, Rett sufferers may hold the key to curing many other syndromes, particularly those involving the X chromosome.
Rett is almost exclusively a girls’ syndrome, with a handful of boys being affected.
This is due to the type of genetic mutation that causes it.
To take you back to high school biology, girls have two X chromosomes and boys are an XY combination.
This means that boys with MECP2 mutations don’t often survive gestation or infancy because they don’t have a ‘spare’ X to compensate for the ‘faulty’ one.
If you were to imagine the symptoms of cerebral palsy, autism, Parkinsons, anxiety disorder, and epilepsy manifesting in just one person, you’d be pretty close to what Rett looks like.
Now imagine all of that in one little girl.
These girls generally have no speech, limited or no mobility, scoliosis, no purposeful use of their hands (so no sign language either), they suffer from regular tremors and seizures, and have difficulty regulating their body’s autonomic systems like breathing and swallowing or maintaining body temperature.
Despite all of these issues, almost all of the pictures on social media this month show the happy, smiling faces of Rett syndrome.
Charlie is certainly a testament to this, and it isn’t an exaggeration to say that she is the sunshine of our lives – and she touches everyone around her in the same way.
If you’d like to know a little more, head over to the Rett Syndrome Research Trust (rsrt.org), a not-for-profit organisation run by dedicated Rett parents on behalf of their beautiful children.
Charlie and her friends need a cure today, and more awareness can only help in that mission.
Spread the word!!
Where do you buy your poppered vests/bodysuits?