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;

Story

A contentious experimental drug offers opportunity to children living with achondroplasia

by Alexandra Havas

Stories/791 , Issues/Disability , Issues/Healthcare

Melbourne Central, Melbourne VIC 3000

20th Apr 2021

When Caspar was only 6-months old, his parents decided to include him in a clinical study using a drug called vosoritide that may increase growth and potentially reduce health complications in children with achondroplasia, the most common cause of dwarfism.

The day that Melbourne parent Daisy discovered her baby Caspar had achondroplasia was a day of mixed feelings. One of those feelings was a sense of relief.

“There was a lot of suspicion and many unknowns for a long time. As confronting and difficult as it was, it was also a relief to have a clear-cut answer,” she says.

Achondroplasia, the most common cause of dwarfism, is a rare genetic disorder that hinders the transition of cartilage to bone. It comes with a lifetime of potential health complications including spinal cord compression and sleep apnoea.

When Caspar was only six months old, Daisy and her partner Justin made the decision to include him in a study led by Professor Ravi Savarayan from the Murdoch Children’s Research Institute in Melbourne using an experimental drug called vosoritide.

“It’s important for me to emphasise that I didn’t want to get Caspar involved for cosmetic or aesthetic purposes. It’s not because I’m trying to change my son’s appearance, because like any mother I think my bub is beautiful and I adore him,” she says.

In September 2020, the Murdoch Children’s Research Institute published a landmark study in The Lancet that found vosoritide increased growth in children with achondroplasia to nearly the same rate as those without the condition.

“This drug is like releasing the handbrakes on a car, it lets you go up to full speed instead of having to drive with the brakes on,” says Professor Ravi Savarayan.

In part, Daisy and Justin put Caspar forward for the study in the hope that it might avoid some of the psycho social challenges children with achondroplasia face and because of its potential to help with associated health problems. However, they also acknowledge the study is bigger than them.

“This study will hopefully change the lives of thousands of people worldwide. It felt like a really special and privileged position to be in where we could contribute to this kind of research,” she says.

Caspar, now 18 months old, has been participating in the study for the past 13 months. Every day, Daisy or Justin gives him an injection and he goes into hospital monthly for a day of testing and monitoring. For the first 12 months, there was a 50 per cent chance of him taking the active drug or placebo, but six weeks ago, Caspar began definitively taking vosoritide.

“It’s still new for us knowing that he’s on that drug so we are just watching and observing. His motor skills and physical development have come along really nicely and really quickly recently. We don’t know whether that’s the active drug,” Daisy says.

From birth, Daisy has tried to promote open dialogue about Caspar’s achondroplasia and she regularly reads to him and her 5-year-old step son from a children’s book that explains his condition.

“It’s really lovely, the five-year-old understands it and can answer questions. I want to be the kind of parent who can answer any questions he or Caspar has in the future,” she says.

Despite Daisy’s optimism, vosoritide has ignited a contentious debate in the short-statured community where some feel it may erode “dwarf pride” by presenting dwarfism as a problem in need of a cure. Erin Pritchard, a lecturer in disability and education at Liverpool Hope University who has achondroplasia, sees both sides of the debate.

“Defending the rights of people with short stature to be viewed in society just like everyone else is admirable. But the other side to achondroplasia is that it is a serious medical condition that has complications that can be so severe that it can cause early death, either in very early childhood or premature death in adulthood,” she says in the Guardian.

While Daisy is aware of the debate surrounding vosoritide trials and acknowledges that dwarfism is not something that needs fixing, she is steadfast in her decision to participate in the trial.

“It’s not about trying to change Caspar, but it is hopefully going to make his life somewhat easier. If it can improve his height and the length of his limbs, that means that he’ll be able to navigate his environment like his peers would and hopefully avoid that feeling of exclusion in social settings when his friends can reach something and he can’t,” she says.

Until the age of 18, Caspar will participate in the trial at which point he can decide whether he wants to continue in the trial until he fully finishes puberty. But what if Caspar decides he no longer wants to participate while he’s still under 18?

“Bodily autonomy and consent are very important to me and I guess we’ll cross that bridge if we come to it. I would ultimately respect Caspar’s decision. It would be tough, because we’ve put a lot of time, effort, and commitment into having Caspar as part of this trial, but when he’s old enough to make that decision if he decides he doesn’t want to continue, then I’ll respect that,” says Daisy.

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