Mackenzie Crane was 10 months old when her parents, Jodie and Scott, were given the life-changing news that their daughter would never walk.
The Karratha family had noticed that beyond learning to sit up at around five months, Mackenzie didn’t appear to be progressing. When a physiotherapist noted the by then eight-month-old had low muscle tone, they took her to the local paediatrician.
“The paediatrician looked at her and did a few things and then looked at me and said ‘Right, I need you to get on a plane to PMH,” Jodie said. “I think the whole world went ‘boom’. “We ended up in Perth, where they ran some tests. Eventually they told us ‘Your daughter will never walk’.”
Mackenzie was diagnosed with Spinal Muscular Atrophy Type 2, a genetic muscular disorder which affects the nerve cells that control voluntary muscles. It was a working diagnosis only, though, as doctors were for years unable to identify the specific genetic fault causing her muscle weakness.
Late last year, Genetic Services of Western Australia finally identified an incredibly rare mutation on Mackenzie’s MORC2 gene. Jodie was told Mackenzie was one of only four reported cases in the world with that mutation.
“It turns out the mutation Mackenzie has is so rare it doesn’t even have a name,” Jodie said. “It doesn’t change anything though – the symptoms are pretty much the same.” Following Mackenzie’s initial diagnosis, the family initially experienced shock and grief.
“This was followed by a steep learning curve and then adjustment to our new situation,” Jodie said. “We tried to stay positive and focused on what Mackenzie could do rather than what she couldn’t.”
As a result, Mackenzie, now 13, has been able to enjoy experiences including overseas travel, concerts and shows, community and social involvement, and has attended the local primary and high schools with the help of education assistants.
In late 2017, the Cranes noticed Mackenzie wasn’t waking up as refreshed as usual, and was experiencing headaches and low energy. A sleep study revealed multiple episodes of obstructive sleep apnoea.
Mackenzie’s paediatric respiratory specialist, Dr Adelaide Withers, suggested the family join the Clinical Predictors of Respiratory Failure in Paediatric Neuromuscular Disorders study.
The Cranes – eager to understand more about Mackenzie’s condition and to help with research which may benefit other families – jumped at the chance to be involved. Although the research has not changed Mackenzie’s treatment, the family is pleased to be contributing to the search for answers.
“The more we know about neuromuscular disease and respiratory health, the better. The deterioration of breathing is a key concern for children like Mackenzie, so hopefully this study will help further identify risk factors and possible future treatments,” said Jodie.
Jodie said participation in the study hadn’t been onerous, with the appointments tying in neatly with Mackenzie’s regular trips to Perth for respiratory and other checks, including routine sleep studies.
“We’ve had a few lung function/breathing tests over the past six months that are not invasive or time-consuming, and the staff are always lovely and accommodating,” she said.
“The research may or may not benefit Mackenzie at this point but down the track it will certainly benefit other people. It’s just good to be involved in it, and to have someone keeping an eye on her.”