In October of 2019 we heard the words that would forever change our lives; Rett Syndrome. That day brought a tremendous amount of heartache ,as we dove into learning about what was going on with our girl. I will spare you all of the medical terminology and explain to you what Rett Syndrome is by sharing our sweet Clarke's story.
Clarke was born in April of 2017. She was our perfect little bundle of love, with a head full of jet black hair. Her "go with the flow" disposition and determination were a winning combination. She was growing beautifully and hitting one milestone after the other; if not early then right on time. When Clarke wasn't walking at 13 months, I was getting concerned. Knowing my daughter and her "go get it" attitude I was on high alert. By 15 months I had started looking into early intervention. She had crystal clear beautiful words with a tiny little voice. Her favorite thing to say was "I happy!", which was 110% accurate. She was climbing on anything and everything; jumping on her toddler trampoline, rocking and loving on her babies non stop. She was just flourishing in all other areas except walking independently.
Within the next few months I started hearing her words less and less. I had noticed an uneasiness in her that quickly turned into a terrible tremor that landed her in the hospital. After several days in the hospital; countless scans, lab work, and exams we were left with more questions than answers. The doctors were certain she had a neuroblastoma that caused others issues. I, being momma, knew in my heart they were wrong. I pleaded for the doctors to send us home and to get genetic testing ordered.
We went home with our girl and a team of prayer warriors behind us. At this point Clarke was saying words sporadically and had a severe tremor that mimicked Parkinson's Disease. My once confident and flourishing toddler had quickly become frail and unsure of herself.
In the midst of finding THE answer, we found an answer. Clarke underwent surgery in December 2018 to decompress a severe Chiari Malformation. We had hoped this was the cause of her tremor and that her tremor was causing her delays. One month after surgery; Clarke took her first unassisted steps. She went from wobbly unsure steps to wobbly proud steps, what felt like overnight. Soon walking became all she did. Her words became almost unheard; her interest in her once coveted baby dolls had completely disappeared. Her climbing and jumping were impossible at this point. We had hoped that her fine motor skills and speech would improve as her gross motor skills did as well. As a momma I was so wrapped up in her achieving new milestones I didn't realize what skills she was actually losing. Clarke was improving her walking daily and I was her biggest cheerleader. I was also her biggest detective. I was fighting and scratching to find THE answer not AN answer. After months and months of fighting with insurance and doctors genetic testing was FINALLY approved. We continued on with our therapies and celebrating each tiny milestone Clarke was achieving. We continued with countless doctors appointments that never failed to end in head scratches and "we don't knows" from the doctors, that followed with a tearful drive home.
October 4th 2019 I received a phone call from the geneticists office requesting both my husband and I to meet in the office Monday morning. I knew something had been found but was not prepared for the words I would hear at that appointment. "Rett Syndrome...most commonly found in girls.... NO CURE... Never live alone.... never talk.... unable to walk.... lose abilities that she has...go home process and come back in 60 days." I'm sure there were other words thrown into the mix but those were the loudest and most gut wrenching so i recall those best. As I rubbed my 36 week pregnant belly I asked,"Is it inherited?" The doctor replied, "No, it just...happens." I took my first breath in what felt like an eternity and the tears began to fall. We were sent home with a pamphlet, a web address for information, and a completely broken heart. It took three months for me to grieve Clarke's diagnosis. I went through the whole process; anger, denial, heartbreak, and finally acceptance. Almost a year later I can truly say getting her diagnosis gave us new life.
Living with Rett Syndrome is like having epilepsy, cerebral palsy, autism, Parkinson's, and anxiety all together. Clarke has a mutation on her X chromosome that causes her body not to produce enough of a protein that her brain needs to properly speak to her body. It's like the oil in the engine of a car, if there's not enough the car will not operate smoothly. There's a lot that Clarke cannot do and a lot that she struggles to do. When you have a child with Rett Syndrome "can't" is a word that simply does not live in your vocabulary. Instead, those things are buried by the words "perfect" and amazing". I wont go through the details of what Clarke "can't" do because that's not what is important. What is important to know is that she IS perfect and amazing in every way.
Clarke is now out of the regression stage of Rett Syndrome and is in the plateau stage (where we pray she stays). Her personality is BIG and BRIGHT. She is beyond brilliant and just as equally stubborn. She communicates perfectly with her eyebrows and eyes and is beginning to master a talking device that uses eye tracking technology that we have named Word Wally. She is in dance class where she has learned how to march and on a good day "twirl". Word party and her Woody doll can instantly bring a smile to her face. She loves other kids and the more "big girl" activities she can participate in, the happier she is. She has two older cousins who are more like best friends. Together they enjoy a version of tag that only they understand that they play until Clarke's legs tucker out. Clarke is an excellent big sister that loves a little to aggressively for my liking but her little sister loves just as hard. They learn from one another which is as equally good as it is bad. Clarke makes our life brighter and happier. She fights hard against Rett Syndrome daily. Walking, taking a drink of water, and even sitting can be a challenge on some days. She is fighting every day and now it is our turn to join her in her fight!
Join Clarke's Cause and fight with her!! The annual Strollathon will be held on September 26th. This year it will be virtual (thanks Covid). Though I am bummed I don't get to fight alongside other families like us in person, it does open the walk up for so many more to join us. Join our team and walk with us on September 26th where ever is convenient for you. Post on social media and use the hashtags #rettsyndromeawareness and #clarkescause. If you are able please make a donation, share our story, and spread awareness about Rett Syndrome. We are selling t-shirts as a fundraising event in hopes that you will wear them as part of the Clarke's Cause team and join in on our walk! All proceeds will be going to Rett Research so that Rett Syndrome will one day have a cure.
Thank you for interest in learning more about Rett Syndrome. Share our story and spread awareness.