Guest Voice: Instead of counting months, we’re focused on years
My 16-year-old daughter, Charlie, has rolled five half-marathons, many 10k races
Our daughter, Charlie-Anne, was born on June 22, 2009. When the doctor handed her to me, I was shocked to see a full head of beautiful, red hair. I was instantly in love.
I had been diagnosed with premenstrual dysphoric disorder years before my pregnancy, so regular mental health counseling sessions were recommended before Charlie was born, because I had a high risk for postpartum depression. I attended them each week before and after her birth. But aside from a few new mom jitters, I took to loving and caring for Charlie as if she had always been missing from my life and I had finally found her.
Cherie Ehlert, right, and her daughter, Charlie-Ann, visit Canuck Place Children’s Hospice, which they help raise money for, in March 2023. (Courtesy of Cherie Ehlert)
Charlie was absolutely perfect, but I soon noticed that she’d become drenched in sweat when she breastfed. One time, when she was on my hip, her head collapsed and almost hit the table. “Strange,” I thought. “Maybe she just suddenly got really tired?”
Then I noticed she wasn’t bearing any weight on her legs. At the gym, I showed friends as I’d try to make her stand, but her legs would just splay. None of them thought it was a problem. “All babies develop differently,” they said.
Charlie was still absolutely perfect. She’d chill and watch me do my makeup, taking in the world around her. She was so gentle. When we were out on our walks, traffic would literally stop for her. People would stick their heads into her stroller and coo over this gorgeous baby with a full head of red hair and big, old soul, blue eyes.
At her four-month immunizations and checkup, our general practitioner gave her the all clear, but as I reached for the door handle to leave, I said, “She’s not bearing any weight on her legs. Is this normal?”
The doctor’s face changed, and she asked me to lay Charlie down. She took out a reflex hammer and tapped Charlie’s knees. Nothing. She kept tapping. Nothing.
She referred us to a pediatrician. It was close to the holidays, though, so we had to wait three weeks.
‘A few months to live’
We went home, and I Googled ferociously. I came across Werdnig-Hoffmann disease, otherwise known as spinal muscular atrophy (SMA) type 1, as a possible diagnosis. “But it could never be that,” I thought. My baby was so happy, always smiling. She loved “Sesame Street” and Raffi. How could such a happy baby be dying? Nope, it couldn’t be that.
Charlie-Anne Ehlert, left, is all ready to attend a Taylor Swift concert with her mom, Cherie Ehlert, in December 2024. (Courtesy of Cherie Ehlert)
We couldn’t bear not knowing, so we took Charlie to BC Children’s Hospital in Vancouver on Christmas in 2010. After some testing, she was diagnosed with SMA type 1 on Jan. 7.
We were told there was no treatment or cure, and that Charlie “had a few months to live.” We were advised to take her home and love her. It was all so hard to compute with this beautiful, happy baby smiling into my eyes.
When Charlie miraculously turned 1, our friends helped us throw her a 100-person birthday party. We thought it would be her first and last celebration. Then we threw huge, second and third birthday parties for her. But we were counting the months, not the years.
Charlie has had surgeries, including to place a gastro-jejunal feeding tube, to repair tight heel cords, and to address scoliosis during a grueling, 10-hour procedure. She’s had to be so brave.
Seven years after her diagnosis, on Jan. 9, 2017, Charlie started the first-ever treatment for SMA, Spinraza (nusinersen). In January, she will switch medications to Evrysdi (risdiplam), another of the now four (and counting) treatments for SMA!
Everything was a miracle. Everything still is.
We started Charlie’s Angels, a fundraising team for SMA and our local children’s hospice, and have raised more than $550,000 so far. Charlie is now 16 and has rolled in five half-marathons and a number of 10k races.
Making other plans
Today, we spend time advocating for accessibility, exploring new technologies to help Charlie live her best life, and fostering her independence. She is a very bright and articulate young woman with a great sense of humor. She’s been struggling with some anxiety lately, but we are working on that together.
We are focusing more on the years, rather than the months.
This life isn’t the usual trajectory, and it hasn’t been easy. But it’s been beautiful and shown me that the little things actually are the big things. As John Lennon sang in “Beautiful Boy,” “Life is what happens to you while you’re busy making other plans.”
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Note: SMA News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of SMA News Today or its parent company, Bionews, and are intended to spark discussion about issues pertaining to spinal muscular atrophy.
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