I want you all to meet someone! Her name is Abby, and I have the great pleasure of being friends with her mom! I wanted her to guest blog for me to bring awareness about Rett Syndrome! Before I met Teri I had only barely heard about it, I'm guessing some of you might be in the same boat!
How exciting. I’ve never been asked to guest blog before so Thank You to Lisa and 7 Yuck Mouths.
My name is Terri and I am Mom, Advocate, wife and all around Autism awareness terrorist.
I run a little website called rettgirl.org and a YouTube channel called Rett We Can.
Why? Well thank you, I’m so glad you asked.
My 7 year old daughter Abby has Rett Syndrome. An X Chromosome Linked form of Autism, X chromosome linked means it is the only form of Autism with a known genetic cause. Because it is a mutated or fragmented gene on this Chromosome is why it mainly affects girl,s but there are a handful of boys that have it to and they are just as deeply affected.
The Bastard gene of which we speak is called MECP2. It is known as the regulatory gene between your brain and your body. It is the gene that tells every other gene when to turn on and off. Unfortunately for families this gene doesn’t turn itself on until your child is between 18 months and 2 years of age. Up to that point you have a perfectly normal, typical child doing all the things they are supposed to do. When this gene kicks on...if it is faulty like in Rett Syndrome everything shuts down, There is a rapid period of regression where every acquired slill is lost. Most purposeful hand use disappears almost immediately, a constant wringing, tapping or hand mouthing starts. All speech goes during this regression stage and your child turns back into an infant where she will stay…trapped in her own body until a cure is found.
Rett Syndrome is considered the first Curable Neurological disorder and it was announced in 2007 that Rett Syndrome had been reversed in laboratory mouse models. It’s there and until we can get it funded in a way that gets it right for humans, our babies remain locked in a world they can only observe.
The major debilitating factor in Rett Syndrome is called Apraxia. Apraxia is defined as the will to carry out intent is there, the physical ability is not. Some describe it as having Aurism,Cerebral Palsy and Parkinson’s all rolled up in one little girl.
Need to Knows:
· Debilitating neurological (movement) disorder that predominantly affects females.
· Baby girls are born "normal" but begin to lose acquired skills between the ages of 1-3 years old.
· Caused by a single gene mutation that leads to underproduction of an important brain protein.
· The most severe form of autism.
· The leading genetic cause of severe impairment in girls - most cannot speak, walk or use their hands.
· Despite their physical disabilities, girls with Rett Syndrome are believed to be functioning mentally at a much higher level than previously thought.
· As prevalent as Cystic Fibrosis, ALS and Huntington's.
· Another little girl is born with Rett Syndrome every 90 minutes.
· Rett Syndrome is a potentially REVERSIBLE disorder. Research has proven once protein levels are back to normal levels, symptoms subside
Why have I never heard of this you may ask? That’s why we are here today. To inform, educate and raise awareness so little girls like mine will no longer be held in the unknown. Thank you to Lisa for allowing me to spread the word here.
To donate to Rett Syndrome research in Abby’s name and follow her personal story you can go to:
Thank you
Terri
