Photo in Nature, by Michael Ares/The Palm Beach Post via ZUMA. This girl has Cornelia de Lange syndrome, a condition with distinct facial features that an app called Face2Gene was taught to identify and distinguish from other rare disorders.
By Louise Kinross
Yesterday, Nature reported on a paper in Nature Medicine about a smartphone app called Face2Gene that helps clinicians diagnose rare genetic conditions by analyzing photos of faces.
According to Nature, "it relies on machine-learning algorithms and brain-like neural networks to classify distinctive facial features in photos of people with congenital and neurodevelopmental disorders."
Not surprisingly, it's better at matching a face to a syndrome than clinical geneticists are.
"We failed miserably, and Face2Gene killed it," a geneticist is quoted saying. In fact, Nature used the header 'Killing it' above that section.
"Killing it" isn't quite the way to describe how it feels to be given a diagnosis of a rare genetic disorder in your newborn. For parents, it's not a game, or a sport, that you win.
If Face2Gene means families of children with the same rare syndrome will be better connected to share information and support, that would be invaluable. But I don't imagine the database serves that function.
I don't believe Face2Gene will necessarily lead to better treatments or therapies for rare disorders, and I wonder whether it will further stigmatize people with unusual faces.
To parents, there is something precious and sacred about a newborn's face. Gazing into our child's eyes is the first way parents connect with that new life.
When your child has unusual features, suddenly the face, instead of being a conduit to loving our child, becomes the focus of a great deal of negative attention from clinicians. All types of measurements of our baby's face and head may be taken and recorded, and we may be given a list of things that are "wrong."
When my son was four days old, a geneticist asked us to have the hospital photographer take photos of his face and profile, as well as his feet, which apparently were extra wrinkly. She said it would be useful to have photos on file to help doctors identify other kids like my son. As a new parent, it felt intrusive and stigmatizing.
Face2Gene has about 150,000 images in its database. Nature noted that these are mostly white faces, and the app only recognized Down syndrome in 37 per cent of black Congolese children. They plan to address this ethnic bias by appealing to doctors for photos of more diverse children and adults. As more photos are fed into the system, it will become more accurate. It sounds benign, but are there any negative implications?
In 2012 we reported on a French study in PLoS One that found photos of children with Down syndrome elicit less positive attitudes than photos of non-disabled children, particularly if the facial features are "strongly typical" of Down syndrome. Photos of children with Down syndrome were automatically associated with a negative trait, in implicit association tests, even in people who had openly rated them positively. "These implicit associations are the result of social values...carried by our culture, said lead investigator Claire Eneau Drapeau. "They are likely deeply embedded, and difficult to break."
How will Face2Gene influence public attitudes about children with facial differences linked to genetic conditions? I don't know the answer to that, but I think it's worth asking.
I remember going to the University of Toronto's medical library, and finding photos of children and adults with my son's condition. They were often naked, looked afraid, and had their eyes blacked out.
What will Face2Gene, and the clinicians who use it, do to promote the humanity and beauty of people with craniofacial syndromes?
A rare diagnosis is just the beginning of a long journey for a family. It's not a precise destination or answer or solution, in the way that the geneticist's words "killing it" imply. A wise pediatrician told me early on, before we knew my son's condition: "It probably won't change the therapies and treatments he receives."
At the time, I was naive. I thought that isolating the gene changes in my son's condition would lead to gene therapy or specific treatments. I even started an international association, with another mother, for families affected with the condition and we worked with researchers. At one point, cancer researchers were interested because one of the genes is a tumour suppressor.
I'm much more cynical and realistic now.
It sounds like Face2Gene is exciting for clinicians. I'm sure it gives them a sense of mastery in pinning down a diagnosis. I'm more interested in what happens next—to that child and family, and to how we, as a culture, view and treat people with genetically-based facial differences.
By Louise Kinross
I read R. J. Palacio’s book Wonder—about a boy called Auggie with a craniofacial condition that elicits stares and fear—back in 2012.
In an e-mail to the author on June 29 that year, I wrote: “I loved the book. In particular, I felt the recognition by Via (Auggie’s sister) of the two ways of seeing Auggie—the one of wholeness and beauty she saw in her mind’s eye vs. the picture of horrifying defects others saw, which she eventually gets a glimpse of—was very credible and real.”
I also wrote about the one part of the book that disappointed me. It happened on page 277, when Auggie’s mom refers to some Grade 7 bullies as “morons” and “imbeciles” and “cretinos.”
Reading that paragraph stopped me in my tracks. It hurt my head.
Why, in a book about accepting differences, would the respected and loving mother figure use labels for people with mental disabilities as put-downs?
Palacio responded on July 14, and apologized. “Please keep in mind that she was referring to the bullies who targeted her son, not kids with developmental challenges,” she wrote.
And yet, we know that slurs are cutting precisely because of their origins.
I don’t use the word “lame.” Decades ago, people would have used the term to describe the lop-sided gait of my son. I realize that people today mean “useless” in a generic sense when they say it. But the word’s origins made people who walk differently feel “other” and “abnormal.” That's where the word got its power and punch.
I’ve heard many parents say they read the book Wonder with their kids, and I’ve always questioned what they said when they got to that part on page 277 about the morons, imbeciles and cretinos. Did they just read over it? Did they talk about why those words negate the main message of the book?
It would be like the mom referring to a bully as a cripple, or using a racial epithet.
I haven’t seen the movie Wonder. I know parents of kids with and without disabilities love it. I know it has beautiful messages about inclusion and kindness. I'm sure it's sparking important discussions about difference.
However, when I heard that the boy playing Auggie would spend two hours a day in makeup and prosthetics to approximate the face of a child with Treacher Collins syndrome—the condition Palacio based the book on—it lost its appeal.
When my son was a baby, I got involved with AboutFace in Toronto. They support kids with facial differences like Auggie’s, and their families. The variety of disorders that can affect the face, skull and neck is huge. According to a similar group in the U.S.—FACES—one in every 650 children is born with a craniofacial condition. Surely with those numbers, and with the resources behind Lionsgate Films, a boy with some kind of facial difference could have been cast to play Auggie.
According to this piece in the Daily Mail,
Wonder's author Palacio “lobbied hard to have a child with Treacher Collins syndrome star in the film.”
The producers did fly in a boy called Nathaniel (with an undisclosed facial difference) for a screen test, the Daily Mail reported. But, as Palacio said in the piece: “Nathaniel had physical limitations, he was hard to understand, and if you have a $20-million movie, you have to make that call.”
Isn’t that the same argument that’s made every time someone gets turned down for a job because of their disability? It would just be too hard to adapt.
If producers were concerned about the child’s speech intelligibility, they could have used captions on theatre screens (what a great way to raise awareness about accessibility?). By the end of the movie, viewers probably would have gotten the hang of it.
Lionsgate uses this tagline for the film: Who gives you the courage to face the world?
In my view, the producers lacked the courage to turn the movie Wonder into the real deal by casting a boy living with a facial difference. It didn't have to be Treacher Collins. But it had to be a real facial difference.
Here’s how a couple of adults with craniofacial disorders and a parent wrote about the casting decision.
“It was devastating to realize that the directors involved with Wonder would rather cast a healthy, 'normal' looking child and put him in makeup and prosthetics, rather than cast someone who looked like me,” wrote Ariel Henley, who has Crouzon syndrome, in Teen Vogue. “I’ve gone my entire life without ever seeing someone with life experiences similar to my own represented on the big screen.”
Mike, who identifies as disfigured, and who I follow on Twitter @guysmiley22 tweeted: “It really, really, really makes me upset to see Jacob Tremblay in that mask. Like our disfigurements are a costume…As if disfigured people don’t exist.”
Sue Robins, a parent who has worked in family engagement in children’s rehab, likened the casting to hiring a regular child to play a child with Down syndrome, then putting them in intensive makeup to mimic the facial features associated with the condition.
There are plenty of child and adult actors with Down syndrome.
Doesn't imagining a child actor wearing a Down syndrome “mask” convey the absurdity of the Wonder casting choice?”
There’s no reason a child with a craniofacial condition couldn’t have played Auggie in Wonder. That should have been a non-negotiable.
Because authenticity, and words, matter.
Below is a photo of Simon Moore and his daughter Alice, who both have Treacher Collins syndrome. The British family was interviewed in the Daily Mail in 2015. The photo is by James Linsell-Clark.
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