Samuel Gray is very brave about his daily injections. At six-and-a-half, confident and happy, he was a boy who knew his own mind and made a big decision about his future. His parents had asked him if he wanted to take part in a clinical trial for a drug that could improve some of the conditions associated with achondroplasia, the most common form of dwarfism, with which Samuel was born. It would also, the researchers believed, increase his height. “Maybe children don’t know the bigger picture, but they know deep within themselves whether they want to do something or not,” says his mother, Kristina Gray, “and we would never force Samuel to do anything that he didn’t want to do.” She says she is proud of him for taking part, and that for their family it has always been about “the bigger picture, because we never knew if Samuel would benefit, but in the long run, maybe his children or grandchildren will”.
Samuel is now nine and has grown about 50% faster than would be expected of a child of his age with achondroplasia. He has no problem with tasks such as getting dressed by himself or washing his hair, which children with achondroplasia can find difficult because of their shortened arms, has more stamina and can walk for longer periods. “He doesn’t need any help from us. He is like any other child,” says Gray. She acknowledges that she does not know how much of that is due to the drug, given as a daily injection in the evening, but she suspects it has had an effect. Samuel’s legs are straighter – people with achondroplasia tend to have bowed legs, which can make walking difficult or painful, and may require surgery. “Samuel doesn’t; his legs are straight. Hopefully, lots of children will benefit from this. Some of the challenges that these children go through physically – the multiple operations they may have to have – if this puts an end to that, I think it’s incredible,” says Gray.
The treatment is in its “early days”, but she believes that it is potentially life-changing. It is also a treatment that is the subject of division within the dwarfism community, with many believing that achondroplasia, along with other forms of dwarfism, is not something to be “fixed”.
Earlier this month, the results of the phase-three study of vosoritide, the drug Samuel takes, were published in the medical journal the Lancet (the previous phase established that it was safe). Covering several countries, with 119 children taking part, it found that those taking the drug for a year grew faster than those on a placebo. Samuel was one of 10 children on the trial in the UK, led in this country by Dr Melita Irving, a consultant clinical geneticist at Guy’s and St Thomas’ NHS trust. “I’ve seen a huge difference in those children, which I know is subjective in my eyes, but now that’s backed up with science,” says Irving. “I see benefits in so many aspects of their lives – physically, psychologically, functionally and with respect to their health as well. It’s very exciting for those children and their families.”
The children who were taking vosoritide “grew about 50% faster than they were before,” she says. “And again, we showed that it was safe.” Achondroplasia is a genetic condition. “It’s caused by a very specific change in one of the genes, which means that the way the bones grow is affected. It has an inhibitory or negative impact on bone growth. The way that the drug works is to release that inhibition.” All the children, including those originally on the placebo, are now taking the drug, and Irving is taking part in research on children under five, including a four-month-old baby. It is still too early to know how long children will have to take the drug for, when the optimal time to start taking it is and what the effects into adulthood will be.
Is its main aim to increase height? “The main purpose of the drug is to improve the quality of life for children with achondroplasia,” says Irving. “It’s improving health status, improving the ability to do normal things that we do every day, and how do we know if that is being achieved? We have to measure something with scientific rigour, so measuring height as a proxy for bone growth and responding to the drug is what we’ve done. The emphasis has been on height in terms of an endpoint, but it’s because it represents so many other things.”
This includes other bones in the body that can all have an impact on the quality of life of people with achondroplasia, such as those in the spine and skull. Irving hopes it will reduce the need for operations into adulthood, and will reduce complications such as “paralysis, pain on a daily basis, sleep apnoea and serious neurological complications. There is hardly anyone with achondroplasia who doesn’t have at least one co-morbidity.” She hopes that this treatment will mean reducing the impact of achondroplasia well into adulthood.
Irving stresses it is “definitely not a cure. We’re not anticipating that kids will ultimately reach average height for someone without achondroplasia, but we anticipate that there will be enough response in the way the bones are growing to produce benefits. Health in general is improved and the ability to do things independently on a day-to-day basis is made easier. Final adult heights are not going to be the average, but that’s not the intention.”
Still, the focus on height has become a flashpoint within the dwarfism community. In 2015, BioMarin Pharmaceutical, the company that developed vosoritide, released the results of phase two of its study. At the time, Leah Smith, a spokeswoman for Little People of America (LPA), the largest organisation in the US for people with dwarfism, said: “People like me are endangered and now they want to make me extinct.” Recently, the actor Mark Povinelli, who is president of the LPA, told the New York Times that the drug “is one of the most divisive things that we’ve come across in our 63-year existence”.
There are, says Gillian Martin, a tutor and chair of the Restricted Growth Association, the British charity that supports people with dwarfism, “people who are genuinely afraid of where this could lead”. Because about 80% of children with achondroplasia are born to parents without it, some “adults with dwarfism in the community feel that average-height parents are being an advocate for a disability that doesn’t directly affect them. There is a fear – irrational in my view – that this research is leading the way to eradicate dwarfism.”
This view tends to be stronger in the US, where there is, says Joe Stramondo, a professor of philosophy at San Diego State University and a disability rights activist, “a more robust dwarf culture and identity. With that kind of cultural context, you’re going to get a very different response to something like this than other areas of the world where people with dwarfism don’t associate with each other as often. We recognise our situation as being one of oppression, and of being subjected to stigma as being the main source of our difficulty in the world. When you have that community, that sounding board, you’re going to have more pushback to a drug like this.” But it’s far from the only view, he says. “We have people who are very much against the use of the drug, and you have folks who are enthusiastic about it, and say: ‘Maybe it’s stigma, but it still makes my life harder. I don’t want that for my children.’ You have a lot of people who are somewhere in between, who are saying: ‘Let’s wait and see what the drug actually does. Let’s see if it has the capability of dealing with some of these co-morbidities such as sleep apnoea, or spinal stenosis.’ I think if it were shown to do some of that, there would be lots of people who would be pretty enthusiastic about it.”
If you ask Samuel: ‘Do you want to be taller?’ the answer is yes.
Stramondo, who has dwarfism (though not achondroplasia), says he does not judge parents who joined the trial or those in future who decide their child should have the drug as and when it becomes available. What he has an issue with, he says, is what he sees as the focus on height or “growth velocity”. “This wasn’t intended as an attempt to deal with some of the co-occurring problems that people have with achondroplasia. It may turn out to be the case that it does some of those things, but that wasn’t the original intent.” He believes that was to “normalise” dwarves’ bodies.
“If I could take a drug to get rid of my spinal stenosis [when the spinal column narrows and starts to compress the spinal cord], I would take it,” says Erin Pritchard, lecturer in disability and education at Liverpool Hope University, who has achondroplasia. “But to get rid of my identity as a person with dwarfism, to make me grow so that I fit in society and I don’t get stared at, pointed out, laughed at, photographed, I think that’s where it gets problematic, because I should not have to change to fit in with a prejudiced society.”
One of the issues, says Pritchard, is that only children can have this treatment, so parents will be consenting on behalf of their children. And because most of those parents don’t have achondroplasia: “They’re going to have their own beliefs about dwarfism prior to ever having a child with dwarfism, which are constructed through cultural representations and whole disability narratives that it’s a ‘tragedy’.”
Pritchard’s mother, who does not have achondroplasia, offered her the choice of having leg-lengthening surgery as a child – a long and invasive procedure that involves breaking and stretching the legs – and once she understood the benefits and risks, Pritchard decided not to go ahead. She knows that a drug treatment is “nothing like leg-lengthening, but it’s about why people are doing this. If parents say: ‘My kid’s got quite bad back problems or respiratory problems,’ then fair enough. But if it’s just because I want my child to be tall, then no.” She adheres to the “social model” of disability, whereby people are impaired not by a condition but by the barriers imposed by society. “That’s what I do in my work, to get society to be more accepting and adopt principles such as universal design.”
The feeling within some parts of the community is something Irving is aware of. “Some support groups object to the possibility of there being a drug to alter them or that might undermine their position, because people of short stature have been trying to defend themselves for years and years, and I fully understand that,” she says. “But the good thing about this trial – and there are a number of others following on behind – is that now people have options. 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.”
Gillian Martin has achondroplasia, as does her daughter, who is now 20. “If someone had told me, when my daughter was 10: ‘We’ve found this drug and it will help to increase her limb length,’ and it was safe to use, I would have said yes,” she says. “Some people are barely 3ft tall; to have an extra six to eight inches of height will improve life on many levels. You’ve got personal hygiene issues, you’ve got issues when it comes to door handles …” These sound mundane, she says, but they’re vital to someone’s experience of the world.
She sees it as an issue of healthcare (she, too, stresses this treatment is not a “cure”). “It’s about alleviating some symptoms, and improving the quality of life.” At the same time, she would also like to see changes in society – everything from making sinks in public toilets accessible to the way people with dwarfism are still seen as objects of entertainment. “It’s the last thing in society you are allowed to take the mick out of. Nobody takes the mick out of people with Down’s syndrome, but you will get [the comedian] Jack Whitehall talking about ‘midgets’. That is considered acceptable.”
Gray says she understands the view, coming under the “dwarf pride” movement, that she doesn’t see achondroplasia as something to be “corrected”. “I don’t walk in a person with dwarfism’s shoes, I haven’t been abused, I haven’t been put up for adoption as a child, I haven’t been ridiculed through history,” she says. “I can understand where [the worry] comes from.” But her child was born with a condition that could mean severe health complications, she says. In trying to avoid or alleviate them, “why would that be a rejection [of dwarfism]?” The decision to take part in the trial was purely based on improving Samuel’s quality of life, and she says this also includes his height. “I’m not ashamed to say it. If you ask Samuel: ‘Do you want to be taller?’ the answer is yes. It isn’t that he’s rejecting himself, it isn’t that we are rejecting him – we love Samuel just the way he is, and he knows that and is quite comfortable in his skin.”
It isn’t about changing who he is. “He’s still Samuel, he still has achondroplasia, but he is choosing to have a life where he can access things more easily, take care of himself, hopefully have a long life without needing to use a wheelchair or with spinal issues and arthritis. I respect the choice element of this – no one is forcing anybody here, but I wouldn’t want Samuel to think, when he grew up, that I deprived him of that choice.”