October: when everyone's inner white girl makes an appearance. It's time for layers, pumpkin spice lattes, hot chocolate, s'mores, bonfires, and it's Rett Syndrome Awareness Month!
One of these things is not like the other? What if that were your normal? What if Rett Syndrome actually umbrellaed everything else in your life? This is Emily, and for her and my family, it does.
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Rett Syndrome is a neurodevelopmental disorder that typically affects girls as the genetic mutation on the MECP2 gene is located on the X chromosome. MECP2 essentially transmits proteins to your brain that are vital for development, and with the mutation that doesn't happen correctly. Clear as mud so far? I think of it like a switch. MECP2 is supposed to turn things on and off; and for Emily, that didn't happen, causing everything that makes her physically an infant stay "on." So, she's a 16-year-old trapped in a body that can't function independently. She can't walk, talk, or feed herself and she'll always be in diapers, but that doesn't mean she doesn't understand what is going on around her. I mean just look at the way she looks at everyone!
Okay...one more...I can't help it.
Rett Syndrome has four stages starting with Early Onset. Stage one is hard to pinpoint as it is characterized as delayed growth between 6 and 18 months. Stage two is the Rapid Destructive Stage ranging from 1-4 years. This could take weeks to months and involves loss of speech, breathing irregularities, and the loss of purposeful hand skills leading to the wringing, clasping, or tapping of hands, which you will see in a lot of the pictures of Em. Stage three is the Plateau or Pseudo Stationary Stage (2-10 years) where you begin to see apraxia (the loss of motor skills,) and seizures, but typically there will be an improvement in behavior and temperament. The final stage is the Late Motor Deterioration Phase, which lasts decades. This is where you see scoliosis and muscle weakness. If the girls were walking, they would more than likely lose their ability here. We have experienced all of this with Emily.
Em being fitted for AFOs to help support her while in her stander or walker.
After her scoliosis surgery.
One of her many involved doctor appointments.
Girls with Rett also have a hard time regulating their body temperature, so we have to get creative sometimes.
We also get creative with communication. Just because she can't talk doesn't mean that she isn't cognitively there longing to talk with us. Eye gaze systems are a great way for these girls to communicate. Here, our youngest sister made her own to ask Emily what she wanted for dessert one year on her birthday.
As of right now there isn't a cure, which is awful for these girls who are forced to live in captivity and terrifying for the families that have to wonder if every morning when they open up those bedroom doors if their girls are going to be alive. That's real. For girls with Rett Syndrome, death is sudden and often unexplainable. So much research is being done though and Rett has been reversed in mouse models. This is huge!
So here's how you can play a part. Rett Syndrome Research Foundation coordinates, cultives, accelerates, and funds research for these girls and their families. They are awesome and you can donate quickly online in order to help further their mission. This isn't a plea for money, but it's really just to raise awareness. In 25 years, I have come across one person outside of my family that has even heard of Rett Syndrome. That's insane considering that 17 girls are born daily with Rett. 17.
So let's educate ourselves and let's be a voice for these girls who don't have one. Let's reverse Rett.
