Kid with Rett Syndrome goes Mushing with Martin Buser | Stories of Inclusion
Everly is a young girl living with Rett Syndrome. Rett Syndrome (RS) is a neurological disorder often misdiagnosed as autism, cerebral palsy or non-specified developmental delay. Everly has a hard time walking but she loves dogs and going fast. With the help of Martin Buser and the Happy Trails Kennel crew we took her family on a once in a lifetime adventure to go dog sledding with an Iditarod legend.
Special thanks to Alaska Mushing School and Martin Buser’s Happy Trail Kennel
Eye Gaze Technology (Excerpt)
She's learning how to do eye gaze technology so she's learning to communicate with a um head gaze device so it's like an iPad that she is able to control with her head movements and it'll select different things for her she can select things by moving her head to choose things by I want a snack I want to go outside my birthday is December 8th 2013 she'll randomly say things on the iPad to try and communicate and so this is something that we've just now recently gotten in the last few months so now she's able to communicate things to us on the iPad and even if it may not make sense in the moment hey you want veggie chips okay I'll go get you veggie chips it's still that Act of responding to whatever she's trying to communicate to us with the iPad.
Rett Syndrome Symptoms (Excerpt)
Every Rett girl is different no Rett girl is the same so even if they have the same genetic mutation ever is R 168x um that mutation can be completely different for somebody else so even if they have the same mutation of Rett syndrome it doesn't mean that they would have the same treatment plan most common uh symptoms of Rett syndrome are seizures um difficulty swallowing breathing difficulty digesting hand ringing putting hands in the mouth um they also have problems with brittle bone scoliosis digestive issues and osteoporosis it's kind of like having Parkinson's epilepsy autism and all rolled into one.
Diagnosed with Rett Syndrome (Excerpt)
So Everly was diagnosed with Rett syndrome in September of 2015 she was about 19 months old prior to that she about 1 years old she was learning to say Mom Dad doggy book um and about 3 to 6 months she lost her ability to walk her talking her words everything went away purposeful hand use her ability to feed herself that was all taken away so it was a very dark time for my family um learning to navigate a very difficult diagnosis was hard on all of us I felt lost as a parent for a time I felt like it was my fault because I had done something to my child I had a lot of guilt because of that in July of 2016 we went to the Denver Rett Clinic in Aurora Colorado and we met with a team of Specialists there who took the time to really meet me and the family and Everly and say this isn't your fault this is a de novo mutation (DNM) meaning it happens at random it's not a genetic link there is a less than 1% chance that it is a genetic link and this was not your fault this was the genetic Lottery of random diagnosis and at that point I came to the realization that I needed to step up as a parent and that it's not my fault I can move past that guilt and just be the best mom I can for my child that was the starting point that I needed the Catalyst that I needed to propel myself into being a special needs parent.
