‘My daughter came home from preschool different. She was biting herself. She stopped speaking, sleeping, playing with toys. I could no longer write it off.’ Mom receives Rett Syndrome diagnosis, told it’s ‘one of the most severe cases’

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“I found out I was pregnant with Evelyn the morning of my husband Stephen’s 25th birthday. I was excited, very nauseous, and slightly nervous about what was to come. I had such a strong feeling this baby was a girl, no doubt in fact (I most definitely put all of my eggs into one basket). I did many of the ‘normal’ things a new mom does before their first child is born. I got the nursery ready, picked out some impractical clothes and accessories for our baby’s room, and started to make a place for this child in our home. I was so looking forward to having a daughter and all it would entail.

My pregnancy was normal and for the most part uneventful. Delivery was long and I thought it would never ever end. After a while, on her own time, she finally arrived. Evelyn Marie was the sweetest little baby and so beautiful. She came out with the most gorgeous lips and looked a lot like her daddy. She was content to observe all that went on around her and the only times she ever really cried were if she was hungry or tired. As far as first babies go, she was pretty easy.

Evelyn hit all of her developmental milestones until we got to about 9-10 months. That’s when I noticed she was making no real effort to crawl. Evie was happy and healthy, so as with so much in her life, I told myself that ‘in her own time’ she will do what she needs to do when she is ready.

Eventually, Evie crawled at 14 months, she self-fed, played with all of her toys, would constantly flip through all of her books, mimicked us, babbled and repeated words, but as with crawling made no effort to walk. It wasn’t until Evie was nearly two when I realized she wasn’t talking as much as she used to. In fact, it had been months since I had heard her say an actual word. The last word I ever remember her saying was ‘baby’ when we announced to our family Evie was going to be a big sister. This was the moment I realized there was something very different about our girl.

Courtesy of Carolyn Fowler

I have heard of delays in development before, many children deal with and overcome them, in various forms. What really scared me was the fact our daughter could speak and then she stopped. She also stopped playing with her toys, didn’t flip through her books anymore, and she was getting more clumsy when feeding herself. Utensils were a bust and she could only pick up food if they were in really big pieces. I felt I could no longer write off Evie’s delays as something that will ‘come in their own time’. Something was wrong.

From that point on, we went through all the motions and saw every specialist under the sun to try and get some answers. Evelyn was in every form of therapy and did so many evaluations, but nothing seemed to help. There was no box we could place her in that explained her life thus far.

With no answers, lots of frustration, and no looking back we decided to move from our home in Florida to start fresh in Virginia. From this point on, our life began to shift drastically. Evie just wasn’t herself. Her behavior and her mannerisms started to really change. She wasn’t sleeping, she was screaming for hours on end in the middle of the night, and she started to repetitively bite her hands, either when she was excited or frustrated.

The spring Evie turned three we sought early intervention. We had her evaluated by the county school system and they diagnosed her with Autism. Ordinarily getting some sort of clarity on what might be causing your child such challenges is a good thing, but in Evelyn’s case a diagnosis of Autism just didn’t feel right. Although she had a couple mannerisms that were characteristic of ASD, the fact she was so social and had such extraordinary eye contact set her apart. It was as if Evie spoke with her eyes.

Courtesy of Carolyn Fowler

With Evie’s new diagnosis, we were able to enroll her in a special education preschool program for the summer and she loved it. One day, Evie came home and she wasn’t herself. She would be going about her business, stop suddenly, blink really fast, then fall backwards. Something was wrong. We called her pediatrician and he told us to take her to the E.R. since all indications were pointing to seizures.

Stephen took Evelyn to the children’s hospital and I squared away care for our son Ellis and our dog. After that, I headed to the hospital not knowing what to expect. Upon arrival, I learned Evie had a ‘seizure’ while being examined by the doctors, causing her to fall in front of them. They weren’t taking any chances; she was being admitted. My heart sank. This was serious.

Evie got attached to numerous leads so they could perform a 24-hour EEG. She slept fitfully through the night, as did we since we are meant to press a button any time we saw a seizure. They happened all night long, or so we thought.

Courtesy of Carolyn Fowler

Before the 24 hours were up, Evie’s neurologist comes in and says, ‘I am ending the test early. Although Evie is having abnormal brain activity they are not seizures.’ I asked her, ‘Well, if they aren’t seizures, what are they?’ She said, ‘Staring spells.’ To that I actually laughed out loud.

When I asked her what we are meant to do now, I will never forget her response. She said, ‘Nothing. You can’t do anything to stop them. I am referring you to genetics. Evelyn’s brain activity is indicative of Rett Syndrome.’ Like most people, we had no idea what Rett Syndrome was, so we googled it. What we found was devastating.

Rett Syndrome is a rare genetic neurological disorder that affects pretty much all motor function. Children with Rett Syndrome will basically lose most of their previously acquired skills and additionally develop other severe symptoms such as breathing difficulties, seizures, scoliosis, and sleep disturbances. Imagine the symptoms of Autism, Cerebral Palsy, Parkinson’s, Epilepsy,vand Anxiety Disorder… all in one little girl. That is Rett Syndrome.

Later that morning, we were discharged and our orders from the neurologist were to ‘keep Evelyn on carpeted floor and stay by her in case she falls.’ My head was spinning, this was our solution, it felt so futile. We kept Evie out of school for the rest of the summer until we could get genetic testing done.

On October 3, 2017, I get a call from Stephen that Evie’s geneticist wants to have a conference call with us. The call drops three separate times. The most important call of our life and I miss it. I sit and wait until Stephen calls me back. My phone rings, I pick it up and say nothing, waiting for him to speak first. He says, ‘Genetics just confirmed Evie has Rett Syndrome. Her genetic mutation is one of the most severe cases and there is no cure for it. With that being said, she did want to emphasize we could neither have caused it or prevented it. We also can’t change it.’ That was it. Those two words changed the course of all of our lives. Forever.

Nothing we had imagined for our daughter’s life would look as we had hoped or expected. The life we thought we would have with her was no more. Every day she would have to battle to be able to walk on her own, stay balanced, breathe, and control her body. She would need help with every single aspect of her day from eating and drinking, dressing, sitting down, standing up, going up steps, opening a door, going to bed at night, everything, every day, for the rest of her life. She may lose her ability to walk completely, have worsening seizures, not be able to swallow her food, and, God forbid, she may not wake up from her sleep one day. We were shattered.

We realized we had no choice in this life for her, but we knew we could choose how we let it define our lives moving forward.

With this diagnosis, we started a movement called Evelyn’s Voice to raise awareness for Rett Syndrome, to be a source of support and inspiration to other families going through similar situations, and to raise money for a cure, because although there is no cure today, there is hope for one in Evelyn’s lifetime.

There are many dark days that are caused by the challenges of this disorder, but I will forever choose to give my daughter the most beautiful life possible in spite of her challenges. We will search out the light in all situations. She is joyful and beautiful, she is the most forgiving and the most resilient, she is not sad about her life, so I won’t be either. Her smile, love for life and for people have touched so many lives without her ever having to say a word.

Am I heartbroken by how hard everything is for her? Absolutely! But I will help her climb the tallest mountains, swim every ocean, and seek every adventure life has to offer. I will try to love as well as she does, and in the process be forever changed by this most genuine and beautiful soul that has ever walked the planet.”

Courtesy of Carolyn Fowler
Courtesy of Carolyn Fowler

This story was submitted to Love What Matters by Carolyn Fowler. You can follow her journey on Instagram and her Website. Do you have a similar experience? We’d like to hear your important journey. Submit your own story here, and be sure to subscribe to our free email newsletter for our best stories.

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