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Born Small
episode • Dateline • News And Current Affairs • 29m
episode • Dateline • News And Current Affairs • 29m
For Daisy, watching her son Casper start to walk was a milestone.
While she shares this feeling with many parents, for the Melbourne mum there was an added layer.
Casper was born with achondroplasia, the most common form of skeletal dysplasia or dwarfism.
Since the age of five months, Casper has been enrolled in a trial of the controversial drug vosoritide, which stimulates bone growth. It requires daily injections.
Daisy says Casper, now five, is "doing really well".
Daisy told Dateline it's been "awesome" to watch Casper keep up with other kids at school.
"Just to see him sort of grow into this really fun, loving, happy little boy who, whether or not he's aware of his difference, doesn't let it stop him at all," she said.
What is vosoritide and how is it used to treat achondroplasia?
Achondroplasia is a genetic condition that causes impaired bone growth and disproportionately short limbs. It affects around one in 20,000 Australians.
It doesn’t just affect stature, there are huge health implications.
For people with achondroplasia, injecting vosoritide daily from the age of two until adolescence when the growth plates in bones are open, can support the body to continue bone growth past the usual length for people with achondroplasia.
Casper joined the drug trial when he was five months old. Credit: Supplied
When Casper was 17 months old, his parents were told that he was approved to join the long-term study, which was the world’s largest clinical trial for vosoritide, at Melbourne's Murdoch Children's Research Institute.
"His father and I both thought, yep, this is the right thing for us and our family and our son. And we just trusted that gut feeling," Daisy said.
Daisy and Casper at a drug trial appointment when he was a baby. Source: SBS / Dateline
"I think that there's a really big focus sometimes on height and stature in individuals with achondroplasia or skeletal dysplasia, which is obviously relevant, but it's not the whole story," Daisy said.
"Talking to Casper's medical team about some potential health complications that he may face when he's older was really sobering for Casper's dad. And it was a big impetus, I guess, for us to get Casper involved."
Some children with achondroplasia have had to undergo procedures like spinal decompression surgery, and experienced health complications like spinal stenosis and kyphosis. Spinal stenosis is the narrowing of spaces in the spinal canal, and can lead to nerve issues and back pain. Spinal kyphosis is excessive curvature of the spine.
Children can also suffer from sleep apnoea and recurring ear infections.
Vosoritide access in Australia
Since 2021, vosoritide has become more widely available in both Australia and the United States.
Australia's Therapeutic Goods Administration approved the treatment in 2022, and the drug was added to the Pharmaceutical Benefits Scheme in 2023.
At the time, Health Minister Mark Butler said patients with achondroplasia are "almost 50 times more likely to die before the age of five than other children".
It was anticipated then that around 140 children will benefit per year.
Daisy says she "just [loves] every second" of parenting Casper. Credit: Supplied
But the drug trial has also been controversial, prompting concern from some members of the short-statured community.
A ‘frustrating’ vosoritide experience
For Becky Curran, attending post-natal appointments after the birth of her son could be "frustrating".
"We did go to a specialist, a dwarfism specialist, and she did mention the option for vosoritide at his three-month appointment," she told SBS Dateline.
Becky, a disability advocate based in the United States, has achondroplasia. She was "eager" to have a child like her and in 2021 was "thrilled" when she got the diagnosis for her son Jackson.
Becky found it 'frustrating' that health professionals would consistently suggest vosoritide. Credit: Supplied / Elizabeth Talbot Photography
"I think people want everyone to be aware that the option exists, but there's that fine line of forcing it on someone and giving them the option to decide."
Why Becky is concerned about vosoritide
Because vosoritide treatment often starts in infancy, Becky is concerned about the children who are "too young to be able to make that decision".
"Is it the family that doesn't feel confident about their child's future that's trying to fix them?"
At Jackson's six-month follow up, Becky decided she would ask that specialists at future check-ups stop suggesting vosoritide unless the family asked for information.
"I went into those appointments proud of the progress that he was making," she said.
"I didn't want to be told that he needed to be fixed".
Tragically, Jackson died when he was 6 months old. According to an investigation by the Massachusetts Department of Public Health, this was due to a series of staff errors at a hospital sleep test.
Becky's continued fight for inclusion
As a disability rights advocate, Becky continues to work towards greater visibility and representation for people of short stature. One pathway for this has been participating in One Mile Runs, part of a goal she developed while recovering from spinal surgery in 2023.
"[My surgeon] told me to try really hard to focus on the positive and that's the physical strength. And in passing, she said to me, I could see you doing a 5K someday."
Becky started publicly sharing her goal on social media, leading to invitations from the Bionic Project, a US physical disability advocacy project, and New York Road Runners, a running community organisation, to participate in their one-mile (1.6km) races.
Using arm crutches and with a support person on side, she completed her first race in Harvard Square, Massachusetts in April this year.
She's continuing to train in one-mile races and hopes to compete in a 5km race in November.
Earlier this year, Becky ran a one-mile race in New York. Credit: Da Ping Luo for NYRR
"I want everyone to be able to cheer each other on and not judge them just based on their appearance," she said.
"We continue as people with dwarfism, as people with disabilities to feel excluded in society. Until we can get to that day where everyone feels welcome, I'm not done with my advocacy."
Mixed feelings among the short-statured community
Being part of a community has also played a key role for Daisy and Casper, who attend meetups through the Short Statured People of Australia organisation. They've also connected with families attending appointments at the same hospital and through group chats.
"There’s short-statured adults as well in there, which is awesome because you can sort of bounce ideas off of them. And then there’s lots of average height parents raising short-statured children," she said.
"You get the opportunity to speak to parents who've got older children who have been there, done that. So it is a really great supportive community for sure."
In her experience, everyone has been "really respectful of whether or not you choose to be enrolled in the study".
But she’s also aware of broader debate in the achondroplasia community online, particularly on social media.
Daisy recalls one comment she read that said: 'there's no way I would ever consider enrolling my child in this. I think she's perfect just the way she is'.
Daisy’s priority is not changing Casper, but instead "trying to maximise his independence".
"Those of us who have enrolled in the trial and are giving our kids the medication, don't think that they're less than. To me, Casper's perfect," she said.
"Anything I can do to make his life that little bit easier, to me, that just seems like a no-brainer."
'Really weigh the options'
While Becky welcomes people and families pursuing vosoritide into short-statured spaces, she is waiting to see more long-term studies on the effectiveness of the treatment before reconsidering her stance.
Becky sees her role as advocating for people of short stature and disability inclusion more broadly, no matter what treatment people take.
A focus of Becky's advocacy is ensuring people with disabilities don't feel excluded in society. Credit: Supplied / Rick Guidotti / Positive Exposure
"At the end of the day, it's your decision, but there is so much positivity out there, even if you don't pursue that route. There are possibilities."
For Daisy, while she was "petrified" when Casper was diagnosed, "the child that you get to meet on the other side of the diagnosis and the fear, and the uncertainty, is amazing".
"I just love every second," she said.
"And at the risk of sounding like a really biased, proud mum, I am loving every moment of being Casper's mum."
