There is a lot I could tell you about Rett Syndrome (honestly, there is a whole lot more that I am still learning) and I'm going to share with you some of the most important facts about Rett Syndrome:
- It is a debilitating neurological disorder that primarily affects females.
- It impacts their ability to walk, speak, and use their hands.
- It is caused by a gene mutation that impacts an important protein the brain needs.
- The children affected appear "normal" and then between 1-3 years of age start to loose acquired skills (this was not the case with Evie…she is atypical).
- Their physical disabilities/limitations are not an indicator of their cognitive abilities. They can hear you. They can understand you. They are smart.
- It means my little girl is limited in her ability to interact with her world.
- It means people must be patient with her (especially me). It takes her longer to respond to a question, return a smile, or reach a developmental goal.
- It means being focused on the inchstones and not on the milestones.
- It means being her advocate and her voice.
- It means lots of therapies, smiles, appointments, giggles, research, cuddles, tears, adjustments, and so much more.
- It means being part of a new family…my Rett family.
- It means…everything…it touches every aspect of our lives.
- It isn't without HOPE! Rett Syndrome is potentially REVERSIBLE!!
There are days when I feel like Veruca Salt (video), clinching my fists, stamping my feet and telling my daddy that I "don't care how I want it now!" Boy, wouldn't that be nice. But, it doesn't work that way. It takes time, research, money, clinical trials, more time, more research, more money, more clinical trials…you get the gist. Progress is being made and one day I hope we can say that Rett Syndrome has a cure and families will no longer have to feel its sting. That will be a great day!!!
If you would like to read more information about Rett Syndrome and meet some of our girls please check out these links:
If you would like to help us find a cure or volunteer or do a little shopping please check out these links:
If you are a parent, family member or friend of a child with Rett Syndrome check out: Rett Girl for additional resources and information.