Living with Barth syndrome: learning to advocate and step back
Cameron has spent much of his life learning how to manage his energy, speak up for what he needs and decide how much space Barth syndrome should take up in his life. For his mother, Donna, the journey has also meant learning when to advocate — and when to step back.
Content warning: This story discusses serious childhood illness and difficult healthcare experiences.
Cameron is a teacher who works four days a week. He plans his workload carefully and, where he can, tries not to let Barth syndrome dictate his life.
Barth syndrome is a rare type of mitochondrial disease, or mito. It can affect the heart, muscles, energy levels and other parts of the body.
Getting a diagnosis
When Cameron was born, Donna already knew there was an unexplained health condition in her family. Several boys in previous generations had died young, but no one knew why.
As a baby, Cameron went into heart failure and was admitted to hospital. By chance, his cardiologist had recently read about Barth syndrome, which had only recently been identified.
Cameron’s heart problems, low muscle tone and family history prompted further investigation. Testing had to be sent overseas, and the family waited around 18 months for confirmation.
Cameron describes his diagnosis as an extraordinary piece of luck.
“I was one of the lucky ones,” he says. “My cardiologist happened to read a paper on a very newly discovered condition called Barth syndrome, and I happened to fit the bill.”
For Donna, the diagnosis also offered a possible explanation for what had happened to other children in their family. Cameron was the first to finally have a name for it.
Learning to advocate
Living with such a rare condition has sometimes meant Donna and Cameron have had to explain Barth syndrome to the health professionals caring for him.
For Donna, repeatedly using appointment time to explain the condition became exhausting. She also sometimes felt judged when she spoke up about what Cameron needed.
Cameron has had a mixture of experiences. He remembers supportive health professionals growing up and has since sought out clinicians who understand mito and chronic illness.
His healthcare needs have also changed over time. A haematologist joined his team when neutropaenia became more significant. Neutropaenia means having low levels of neutrophils, a type of white blood cell that helps fight infection, and can be a feature of Barth syndrome.
Cameron has also encountered health professionals who, he felt, did not understand his fatigue, exercise intolerance or low muscle tone. Those experiences have made him more selective about the care he seeks.
“If it’s not entirely necessary, leave me alone,” he says.
For Donna, advocacy was particularly important during Cameron’s school years.
She could see that a busy weekend might leave him fatigued for days afterwards, affecting his concentration and learning. His classroom teachers were supportive, but some school policies and attitudes were harder to navigate.
Donna remembers Cameron coming home upset after receiving a low grade for physical education, despite receiving a much higher grade for effort.
“I said, you cannot compare him to his peers,” Donna recalls. “You have to allow for different abilities and disabilities.”
Because Cameron often looked well, Donna says some people questioned whether he needed the support she was asking for. At one point, she was described as “neurotic” for continuing to advocate for him.
“I wouldn’t stand back and I fought for him,” she says. “I have no regrets.”
Managing energy as an adult
As an adult, Cameron now makes many of those decisions for himself.
He originally wanted to become a chef but realised the physical demands would be difficult to sustain. Instead, he became a home economics teacher.
Teaching still requires careful energy management. Cameron works four days a week and tries to schedule all his practical cooking classes on Fridays, so he has the weekend to recover.
“I’ve just had to manage it,” he says.
His workplace is generally supportive, but his needs can still be overlooked. He might be given classrooms upstairs, for example, and he does not always want to raise every issue.
“You don’t want to ruffle feathers,” he says.
Because Cameron has lived with fatigue his whole life, even he sometimes questions what other people experience.
“Sometimes I think, maybe everyone is this tired,” he says. “Then I remember that doing one really long day and taking a week to get over it probably isn’t normal.”
Learning to step back
When Cameron was younger, Donna worked hard to help other people understand what he needed.
With Cameron’s permission, she would speak with his classmates at the beginning of each school year. She explained why some things were harder for him and encouraged the children to ask questions.
“The kids were so much more supportive because they understood,” she says.
But as Cameron grew older, Donna’s role began to change.
At 18, he moved away to study and transitioned into adult health care. He was attending appointments, receiving information and making decisions without Donna beside him.
One phone call became a turning point.
Cameron told Donna that his cardiologist had suggested his next appointment be in 12 months. Cameron had questioned that and asked to return sooner.
“That’s when I knew he was okay,” Donna says. “I thought, all right, we’ve got this.”
It was what Donna had worked towards for years: Cameron being able to understand his health and advocate for himself. But letting go was still difficult.
“You work your whole life towards them being able to do that for themselves,” she says. “That’s the dream — that they become independent, live their own life and can advocate for themselves.”
Being Cameron
Cameron’s relationship with Barth syndrome has changed as he has grown older.
“When I was younger, I wanted a cure or a treatment,” he says. “As I’ve gotten older, I’ve come to think: I am what I am.”
He does not want Barth syndrome to define him. Sometimes he wants distance from the rare disease community and space to simply live his life.
At the same time, helping other people matters deeply to him. It is part of why he became a teacher.
That is also part of how he thinks about clinical research. Taking part is not something Cameron actively wants to do, and the idea scares him. But if a suitable study arose and he decided his participation could contribute to knowledge that may help people with Barth syndrome in the future, he says he would consider it.
“I want to do what’s best for other people,” Cameron says.
“Do I want to do it? No. Does it scare me? Yes. But I would do it.”
This story reflects a personal lived experience and is not medical advice. Please speak with a qualified health professional about your own circumstances.
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