Finding cures for children's genetic diseases

Connor's Story

As a neonatal nurse, Nikki Rabold-Cowley knew something wasn’t right when she developed severe polyhydramnios (excess amniotic fluid around her baby) 30 weeks into her pregnancy, requiring her to be closely monitored in hospital.

At 34.5 weeks, doctors decided a natural birth was out of the question and they needed to induce her baby.
“This was really hard for me as I regularly attended these types of deliveries and knew what every alarm sound meant. Even though I couldn’t see Connor when he was first born, I knew things weren’t going 100% well,” Nikki said.

Connor was born on 18 July 2016. The days following his birth became progressively more difficult for Nikki and her baby. Connor started to go ‘blue’ and was given respiratory support at hospital. A few days later, Nikki noticed other worrying symptoms.

“I felt concerned that he wasn’t moving much and was drooling a lot, and didn’t appear to have a gag reflex,” she said.

Nikki went directly to Connor’s treating doctor and said, “If I was looking after this baby I would come to you and tell you that something was wrong.”

Four months later, Connor had a follow-up appointment with the hospital’s genetics team. The specialist noticed Connor had a tented upper lip.

“This is a characteristic of Myotonic Dystrophy and was the main reason Connor’s specialist wanted to send off the test,” Nikki said.

Just over a week later, she received the much-anticipated phone call. Connor was diagnosed with Myotonic Dystrophy.

connor_treatment.jpgA series of endless tests from blood tests, to MRIs, EEGs, head scans, and lumbar punctures were done—yet the results still didn’t show anything out of the ordinary.

Myotonic Dystrophy is an incurable genetic disorder that leads to gradual muscle loss and weakness. Nikki and her husband were shocked but relieved to have a diagnosis after months of unanswered questions.

Connor is gradually begining to do activities like other kids his age. He has just started daycare and loves attending his weekly swimming lessons.

“He loves swimming and takes lessons weekly, and is getting so good. Anything to do with water, Connor loves. He also loves music, and you can spot him bopping to music all the time and clapping his hands. He has even started humming along.”
Myotonic Dystrophy is an inherited condition, so Nikki and her husband were tested and found she was a carrier. With her medical background, Nikki felt obliged to contact as many family members as she could. She learned the genetic condition affected 27 individuals over five generations.

While Nikki said it’s hard to come to terms with caring for a child who needs special attention, she ‘wouldn’t change him for the world.’
“Although you see a happy family photo, our journey has been hard and predicting our future is impossible. How this disease will affect Connor and myself in the future, we don’t know. Our future path is to teach the world about this condition—to learn as much as we can to ensure Connor has the best life he can have, and to help him reach his full potential."
Nikki hopes Connor’s story will raise awareness for genetic conditions like Myotonic Dystrophy.

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