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Kinslee's Story

July 13, 2016 @ 4:45 p.m. I got the call that changed our lives. It was the call from genetics confirming my research was correct, Kinslee has Rett Syndrome.

During pregnancy I kept telling my doctor that something wasn’t right, I didn’t feel right. After multiple ultrasounds, she assured me that my baby girl was ok and to try and relax. At birth, I knew that life was going to be different, that something was “off” with my sweet prefect little girl who was placed in my arms on February 11, 2014 shortly after 930pm. I knew from that moment on, I was in for a ride.

Her pediatrician kept assuring me she was ok, but I knew better. At her 1 year check up and she wasn’t even attempting to crawl among a whole list of other concerns, he still told me that she will “catch up” I knew at this time, it was time to find someone to listen to me, a doctor who took my concern seriously. Kinslee wasn’t hitting her milestones, she wasn’t like the other kids, she was different, but still sweet & perfect in every little way. At 11 months old, I called and got her enrolled in Parents as Teachers who then referred us to First Steps. I found a new doctor and was excited to see her for the 15 months child checkup.

I gave the new doctor a list of all my concerns and she referred us to St Louis Children’s neurology. She suspected Cerebral Palsy. We were sent for an MRI to check for brain damage. That test came back with no damage. So, now what? Her neurologist wasn’t sure. I set out to diagnose my own kid. I was on a mission and I wasn’t stopping until I had answers.

Dec 12, 2015 Kinslee was diagnosed with Autism. We knew that wasn’t right. we knew there was more to her that autism. I fought, I fought hard. Endless nights of research led me to a blog about a little girl diagnosed with Rett Syndrome. THIS WAS IT! My girl had Rett Syndrome - I just knew it.

January 20, 2016 I asked her neurologist to test for Rett Syndrome. The Dr declined, said she didn’t fit the physical appearance of Rett children. OK, now what? I’m stumped. I have researched and researched far too much to be turned down like that. I know this is it, I know my girl has Rett Syndrome. But, she had purposeful use of her hands(at this time) and she walked. Part of me was glad the doctor said she didn’t fit the physical appearance, because Rett Syndrome looks scary on paper. I began to drive this doctor bonkers, calling weekly (most times) requesting a full exome sequence test. This would test for hundreds of disorders and mutations that would explain Kinslee. Then, SHE FINALLY AGREED to the test.

May 27, 2016 we saw the geneticist who ordered labs for Kinslee as well as myself and Cody. This will be the test to provide answers. The only downfall—results can take 6 months to be in.

July 13, 2016 @ 4:45 pm my phone rang, it was the hospital; I assumed it was the automated call to confirm an appointment the following week. Mrs Kinder, this is your genetic counselor, do you have a minute? "sure, yes, absolutely. I didn’t expect to hear from you until around Christmas!"
We have the results back. Kinslee has a mutation of the MECP2 gene - I lost it, I knew exactly what that meant. I don't remember much more, everything started spinning, I was out of control crying, I couldn't make sense of this. How can this be? She said to me, "I expected your reaction to be just this, any parent who has done their fair share of research knows what this means. I’m sure you know that this means Kinslee has Rett Syndrome" The world stood still...these words ripped through me and hurt me more than anything that has ever happened in my life. I know what Rett is. I researched it intensely. We prayed so hard for the results to not come back as Retts. But it did. And here we are. Fighting every second for our girl to get the help she needs.

What is Rett Syndrome?
Rett syndrome is a neurodevelopmenal disorder that affects girls almost exclusively. It is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and so much more. As the syndrome progresses, the child loses purposeful use of her hands and the ability to speak. The loss of functional use of the hands is followed by compulsive hand movements such as wringing and washing. The onset of this period of regression is sometimes sudden.
Apraxia — the inability to perform motor functions — is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement, including eye gaze and speech.
Children with Rett syndrome often exhibit autistic-like behaviors in the early stages. Other symptoms may include walking on the toes, sleep problems, a wide-based gait, teeth grinding and difficulty chewing, slowed growth, seizures, cognitive disabilities, and breathing difficulties while awake such as hyperventilation, apnea (breath holding), and air swallowing.


Want to find out more? Follow our journey with Kinslee's diagnosis on facebook.
www.facebook.com/rettgirlkinslee

How can you help us? Spread Awareness, talk about it. Talk about her to everyone. Talking spreads awareness, awareness means more funds raised for research. More research means a cure.