A Valley family shares its journey with child’s Rett syndrome
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Angela Disney
Submitted photo/Angela Disney
I hope someone can be encouraged by our story and know that even when life gives you something you didn’t plan for that is so overwhelming and challenging, there can still be so much hope, goodness and beauty. I’m continuing to learn that the most growth and life-giving moments of your personal story are the ones you could never imagine or see coming. ”
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OPINION — Our daughter Collyns Belle — “Colly” — was born in 2021 after an uneventful pregnancy. She joined her two brothers and sister, and when she arrived, our family felt complete.
Her first year was very typical. She did everything her three older siblings did. She rolled, sat, smiled, babbled and even crawled. Colly was overflowing with life, and her personality sparkled.
Around her first birthday, we noticed she was not making any attempts to pull herself to stand or bear weight on her feet. We were concerned. After four kids, we knew that babies hit milestones at different times, but this seemed prolonged. We began pressing her pediatrician for help and answers, but sadly our concerns were brushed aside. We went out on our own to find answers, connected with Early Intervention in Arizona and later did genetic testing.
While we waited for test results, we spoke with a therapist, who told us that her muscle tone was very low and she had a very weak core. She also shared her opinion that Colly should’ve been in therapy a year prior to this.
At the same time, we also began to notice her withdrawing from social engagement, grinding her teeth and crossing her eyes. When my husband and I googled her symptoms, the first thing that popped up was Rett syndrome, a condition we had never heard of.
We felt absolutely terrified but tried to have hope. After about a month, genetic testing revealed our worst fear had come true. Rett is a rare and extremely debilitating neurological and developmental disease. Colly was 21 months old.
Within two weeks, we formed a plan. We wanted to give Colly the best chance at life, so we sought out intensive physical, occupational, speech, behavioral and feeding therapy. We were scared, but we were also trying to be optimistic because we wanted to believe that Colly’s story would be different. We promised to do everything in our power to give her that chance.
In the nearly 4 years that followed her diagnosis, we have seen Colly accomplish things that we once only dreamed about. We’ve also watched her struggle and endure moments that can only be described as heartbreak. Colly is nonverbal and cannot express any need. Recently, she's had setbacks with her intestines slowing down due to a neurological disconnect. This creates inconsolable pain and discomfort throughout the day.
It is devastating as a parent to see your child suffering and not know how to help them.
On a positive note, in 2023 at 2 1/2 years old, Colly learned to walk, which is an incredible feat for a child with Rett syndrome. She continues to eat by mouth and regained the ability to babble. She engages with her family, and she has a huge love for all kinds of food and music. Her siblings are her biggest supporters and cheerleaders. They constantly make her part of their world, and she makes them part of hers. It’s truly beautiful to see their relationships blossom.
That said, every day is still extremely challenging for her. Rett is life threatening and life limiting. Simple things that most people take for granted are a struggle for her: taking a breath of air, sleeping through the night, chewing and swallowing, going to the bathroom, using her hands. Still, she smiles the most beautiful smile that literally makes us gasp and brings tears to our eyes. We are in awe, knowing that despite her pain, stress, fear and anxiety, she still looks at us with the sweetest, most pure smile. It’s something we feel blessed to witness.
Of course, we still have dreams for her. Our biggest hope is that she’ll be able to receive a life-changing treatment sometime in her childhood that will change the trajectory of her life. Most parents (myself included, before Colly) will tell you that they just want their kids to be happy, successful, good, kind people when they step into adulthood. When you’re faced with something like this, you realize there was only ever one thing that was important: your child’s health. It puts a lot in perspective.
I hope someone can be encouraged by our story and know that even when life gives you something you didn’t plan for that is so overwhelming and challenging, there can still be so much hope, goodness and beauty. I’m continuing to learn that the most growth and life-giving moments of your personal story are the ones you could never imagine or see coming.
Please submit comments at yourvalley.net/letters or email them to AzOpinions@iniusa.org. We are committed to publishing a wide variety of reader opinions, as long as they meet our Civility Guidelines.
Rett syndrome,
debilitating neurological and developmental disease,
first birthday,
no attempts,
to stand,
bear weight,
Early Intervention,
Arizona,
genetic testing,
low muscle tone,
very weak core,
withdrawing,
social engagement,
grinding teeth,
crossing eyes,
nonverbal,
cannot express need
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