For two years, we flew our young son to Melbourne every three to six months to take part in a drug trial. There is no better place than Melbourne’s Royal Children’s hospital for such a gruelling activity. Enormous fairy dioramas hang from the roof. A cylindrical fish tank as wide as a whale’s gullet and three storeys high is filled with brightly coloured tropical fish. An ice-cream shop in the hospital’s foyer is a great source of sugary bribes.
Every second trip was the worst. That’s when doctors inserted a cannula into the back of my son’s hand or foot so they could take multiple bloods over the course of the day. Once, when my son was two, the nurses and anaesthetist struggled to find our son’s veins. He has particularly tricky veins to find: they’re smaller than other kids his age and hidden under more flesh. It was my job to hold him in my Wolverine grip while the anaesthetist ran his ultrasound machine over his wrists and feet. He looked panicked. I was crying, my son was wailing and looking at me with large eyes that said: Why on earth would you let anyone do this to me? They tried again and again until his onesie was covered in fresh blood and our tears and the nurse said, “You can tell us to stop, you know”.
“Then stop!” I said.
The anaesthetist looked relieved. “I would have done the same thing,” he said. “I have a daughter the same age, and I’m not sure I could watch her go through that.”
I took my son outside on to the wind-blasted balcony, surrounded by white stones and succulents. We held each other and cried great loose sobs until I could steady my voice enough to call my partner.
“I’m not sure I can do this any more,” I said to him.
He fell silent.
I explained: the whole point of enrolling our son in this drug trial was to minimise medical intervention in the long run, but what if it wasn’t medical intervention? To put him through this every six months for the next 17 years? He’d be sure to develop a phobia of doctors and hospitals – and in that moment I was not convinced the payoff was that great.
But I never did pull the pin. Like any difficult decision complicated by long lists of pros and cons, my partner and I ultimately decided that the pros outweighed the cons.
Here’s the background:
At his birth, our son was diagnosed with achondroplasia, a congenital condition caused by a mutation of the FGFR3 gene. It’s the tiniest change, almost too tiny to imagine. At one point in the fibroblast growth factor receptor 3 protein chain, the amino acid glycine is switched out for the amino acid arginine. That’s it. But this tiny change makes the protein very active. The long bones of a person with achondroplasia ossify sooner, while the same bones in an average-statured person stay cartilaginous for longer and grow longer as a result. And that’s why the most visible symptom of achondroplasia is short stature, or dwarfism.
People are less familiar with the suite of other possible side-effects. Children with achondroplasia have smaller breathing passages, smaller veins, and the foramen magnum – the hole in the back of the skull through which the spine passes – is much smaller than in average-statured kids, while their skulls are much larger and heavier. Some studies have shown the infant mortality rates of children with achondroplasia are five times higher than average, and this is mostly the result of severe obstructive breathing, or sleep apnea, and compression of the foramen magnum.
Other joys await an adult with achondroplasia. Their life expectancy is 10 years lower than for average-statured people. The composition of their bones leads to a higher risk of spinal stenosis (a narrowing of the spinal canal) which can be debilitating. Many adults with the condition rely on mobility scooters and painkillers to alleviate chronic pain. Some choose to undergo surgery. I spoke to one young woman who had five surgeries in 10 months when she was in her 20s. She said:
In August 2016 I had two spinal surgeries within the week which were both eight hours long … I remember describing the seven days in between surgeries as absolute hell, it was so painful and so hard to do anything … I just started to turn a corner and then I had to go in and have another one the following week. The second was so painful as well. The surgeon told me that it would be a month until the pain settled …
Despite the pain these surgeries inflicted, she believes they saved her life. Before the surgery she would get pins and needles in her feet as she walked around. If she lay down for short periods of time, pain from the arthritis in her back made her seize up and struggle to get up again.
Once the surgery was done and I had recovered, none of that happened any more and I could walk so much further than I ever used to. It was amazing!
When our son was 14 months old, he was given an opportunity to be one of the youngest candidates in a trial for a new drug – Vosoritide – that promised to eliminate the need for this kind of surgical intervention. We leapt at the chance.
Since making that decision, what continues to haunt me is the thought that our son will turn 15 and ask: Why did you try to change me? Didn’t you love me the way that I was?
But what haunts his father is the thought that if we don’t continue the trial our son might say: Why didn’t you do everything you could to keep me out of the surgical ward; to help me live pain-free?
The reality is, we have no idea what our son will think when he is 15, 20, 50, 80. We’ve had to weigh the options, take a punt, and hope he’ll believe we made the right choice.
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How the media deals with our choice, though, is another matter altogether. They want cowboys. Pistol shootouts at sunset. Otherwise, where’s the story?
Over the last four years, Vosoritide’s piecemeal coverage in the media has become increasingly polarised. Recently on Channel 9 news, the drug was celebrated as an alternative to “limb-lengthening surgery” – a breakthrough “cure” for a “disorder”, something to be used to help dwarves grow taller. While in an interview on an SBS Dateline documentary with a member of the Little People’s Association in the US, the drug was compared to “genocide” – an example of doctors trying to erase an entire category of people.
In her Sydney festival play Othering, producer-performer and short-statured woman Debra Keenahan recalled how a doctor advocating a medical trial asked her, “But don’t you want to be taller?”
“No,” was her exasperated answer.
According to Keenahan, this was a cultural position the doctor seemed unable to comprehend. Why didn’t she want to be “fixed”?
Because, she argued, not every difference is a problem waiting to be solved.
In all these stories, whether for or against the drug, the emphasis is placed on growth, and growth is equated to length. But there are so many other aspects of growth to consider – how cartilaginous are bones? How dense? How brittle? How prone are they to causing pain in the human they support?
Some doctors who publicly campaign for Vosoritide frame it as a “cure”; a chance for longer limbs. They fail to see that a culture, an identity and a community exist around people of short stature. This is the main concern I have around our decision. What if the drug ends up placing our son between two cultures: the short-statured community, and the average-statured community, and he finds he doesn’t quite fit into either?
My partner isn’t as rattled by the quandary. “I was there when our son struggled to breathe. I know we made the right choice.”
It is predicted that Vosoritide will open up the foramen magnum, the spinal canal and airways. Despite these medical benefits, it’s the claim that it will likely add 10cm to the average height of 130cm for an adult male with achondroplasia that seems to be the sticking point in the cultural debate about the drug. What were the reasons behind the development of Vosoritide? Were they medical or cosmetic? Is it a moral problem if the answer is both, even if we only enrolled our child for the medical benefits?
As firm believers in the social model of disability, it was important to us that our son keep his identity as a person of short stature. When the time comes for our son to learn to drive, I would rather use NDIS support to adapt our car so that he can reach the pedals than medically tinker with his body so that he can fit the car we already own! But it was also important to us that we do our best to reduce his chances of experiencing debilitating spinal surgery or living with chronic pain in the future.
Our son is now five-and-a-half. We’ve been giving him daily injections at home for a little over four years, and even though my doubts persist we will probably continue to do so until he stops growing at age 18. He still snores – badly – and may still have to have his tonsils removed. He may end up needing grommets to drain fluid from his smaller hearing passages at some later stage. But since enrolling in the trial, he hasn’t needed to undergo surgery. He still looks like a short-statured person. He has a larger head (setting off his fabulous head of hair!) He is still a whole head shorter than his peers and the difference is growing every day. He needs a scooter to get around school, and adjustments need to be made in his classroom to make things easier to reach. But, so far, he can walk, run and play pain-free, with relative ease.
My partner would tell this story differently, of course, and so will our son, when he is old enough to decide how he feels about the decisions we have made on his behalf. I hope we will be able to cut through the noise and listen to each other’s versions with open hearts, and our cowboy hats set to the side.
