Mama and Dad

I was hoping my agitated reaction to the New York Times' Motherlode column “Should Down syndrome be cured?” would fade, but it won’t.

The post covers research from Stanford University that shows that a drug can temporarily restore some learning and memory skills in mice with Down syndrome.

Jenn Power, a Canadian mom of twin boys with Down syndrome, said she greeted the news with tears. “I find it hard to read this article without hearing a judgment on the value of my children, children who have transformed my life and the lives of many others – for the better…In the debate surrounding disability, there is an assumption that we all agree on a definition of what is good, what is better, what is the ideal. Who decided that smarter is better? Who decided that independence takes precedence over community? Who decided that both the individual and the society are better off without Down syndrome?”

Contrary to the Motherlode headline, lead researcher Dr. Ahmad Salehi in the Contrarian notes that his findings are “far from being a cure,” but could eventually lead to greater independence in people with Down syndrome. “There are many places in the world that may not look at Down syndrome the way that Jenn does,” he writes. “For these children, finding a way to even partially restore cognition or preventing further deterioration in their learning and memory would be extremely important and helpful in their very competitive societies.”

The research (while in its infancy) sounds positive to me.

What bothers me is the way the media have framed it as a full-blown cure – as in eradication of people with Down syndrome – and the slew of reader comments that imply life with intellectual disability is somehow less than human.

“The reason it is called a disability is because it is a lack of something…that makes a complete human being," one reader noted. "That is a tragedy; it is not another equally good form of personhood.” Says another: “You'll never meet a doctor or a lawyer with Down syndrome.”

Is a good life – a happy and meaningful life – tied to brain power? Are doctors and lawyers inherently better “people?” What does it mean to be a good human being? Are we less human when our academic intelligence is limited?

Another Motherlode reader equates learning ability in people with Down syndrome to her suffering with untreated bipolar disorder. But does having a low IQ, in and of itself, cause physical and mental suffering?

I can only look to my son, Ben (in photo above with sister Lucy), who has mild mental retardation, in trying to answer this question.

It seems to me that the bulk of suffering for children and adults with low intelligence comes from being judged and excluded by others.

In Ben's case, I think he experiences anxiety and frustration, and that is a form of suffering. But for the most part I do not see his intellectual disability causing suffering.

Is he suffering when he’s laughing hysterically while playing computer games designed for younger children? Is he suffering when I pull him around on a swim noodle in the heated pool at Bloorview – or when he balances on the swim noodle himself and pretends he’s a cowboy? Is he suffering when he looks down from a height of 20 feet to see a group of children cheering his descent on the zip line at camp?

My son does have physical pain, and that is a terrible form of suffering. But I don’t believe that his intellectual disability causes him to suffer.

Years ago I was asked to fill out a survey by genetics counselling students about aborting fetuses based on disability and quality of life. It bothered me tremendously that there were questions like: “Would you terminate if you learned your child had mental retardation that would affect his quality of life?”

People with mental retardation are marginalized and discriminated against in our culture. That’s a social problem.

Does intellectual disability limit one’s ability to have a rich, joyful life? I don’t believe it does. I do believe it makes life harder – much harder – but I don’t equate a good life with an easy life.

I did like this comment on the Motherlode blog, from the mother of a child with Down syndrome: “It is hard to believe that she won’t be able to solve problems or read literature. And yet it is easy to believe that she will rush to a friend, or even a stranger, in need. Easy to believe she will bring joy and light and life. Can you live a full life without ever solving a quadratic equation? Without reading Dostoyevsky? I’m pretty sure she can. Can I live a full life without learning to cherish and welcome those in this world who are different from me? I’m pretty sure I can’t.”

What bothered me most about the Motherlode comments was the hatred and fear that intellectual disability seems to elicit in so many otherwise educated people.

What did you think?

I was putting together the science roundup for the December issue of BLOOM magazine and couldn’t help noticing that six of eight recently published research studies about childhood disability focused on autism.

Given autism affects one in every 150 children, it wasn’t surprising that a large chunk of research dollars would be invested in treating this disorder. But I wondered whether funding to develop treatments for, or improve quality of life in, other conditions reflected how commonly they occurred in children.

I recalled a fascinating fact sheet from the Cerebral Palsy International Research Foundation (CPIRF) earlier this year that compared the prevalence of well-known childhood disorders with the amount of research funding they received from U.S. federal government and private sources.

For example, muscular dystrophy affects one in 8,000 children but received $47 million in federal funding this year. Cerebral palsy affects one in 278, but received only $16 million. Autism, at one in 150, received $105 million.

On the private side, muscular dystrophy research drew $310 million, autism $15 million and cerebral palsy $2 million.

I asked Dr. Mindy Aisen, medical director of the CPIRF, to explain the disparity.

“It’s a matter of access to media and funds for lobbying politicians,” Dr. Aisen said. “At the end of the day, research funding does not equate to prevalence. It’s political, and politics is influenced by the media and lobbying. Cerebral palsy is terribly underfunded proportional to its enormous prevalence – which has gone up dramatically in the last decade as a result of the rise in multiple births associated with fertility treatments and our ability to save premature babies.”

Dr. Aisen noted that Jerry Lewis was a media champion for muscular dystrophy research and “autism exploded on the scene with a huge media campaign by Autism Speaks. They’ve done a phenomenal job of making autism a political issue and God bless them.”

Unfortunately, cerebral palsy doesn’t have high-profile celebrities to take its message to the masses and the CPIRF board chooses to put its money into research rather than lobbying.

Dr. Aisen noted that raising research dollars for autism may better capture the public’s imagination because it’s a disability that isn’t apparent at birth. “Children with autism start out looking great and everyone has the expectation that this delicious toddler will be totally functional – and then at age three parents lose that hope. With cerebral palsy, problems are usually apparent from the beginning. There’s still a huge stigma attached to physical impairment. People see a wheelchair and look away – especially if it’s a child in a wheelchair.”

The marketing of high-functioning autism and Asperger’s is also reflected in the recent spate of movie characters with the conditions. “There’s something very appealing about children who are extremely intelligent, mathematical and computer savvy and the sense that if only we could overcome this problem, they could contribute so much.”

Disparity in research funding also exists between disabling childhood and adult conditions. “In large part children’s conditions are far less well funded than any adult condition,” Dr. Aisen says. “Children don’t have a voice. In the end, people fight for what’s most relevant to them.”

That may explain the explosion of stem-cell research funding for end-of-life conditions like Parkinson’s, Alzheimer’s and stroke, but the lack of a single stem-cell clinical trial for the treatment of cerebral palsy. “Imagine how stem cells might be even more powerful in the highly plastic brain of a baby,” she says. “The lack of stem-cell research for cerebral palsy is mind-boggling.”

Dr. Aisen says we’ve never been closer to scientific discoveries that can benefit children with cerebral palsy. “We have such powerful pilot data and ideas and research talent, we just don’t have the funding for clinical trials.”

Constraint-induced movement therapy (CIMT) – based on the premise that new motor pathways can be laid if a child with one-sided weakness is motivated to use the weak limb by casting the strong one and developing engaging virtual-reality and robotic applications that give the weak side a repeated workout – shows great promise, she says.

“We have the technologies and techniques that we know make an impact and if we just had a bit more research we could really explore how much, when, and what combination of things works best. The National Institutes of Health and National Institute of Neurological Disorders have supported work into CIMT, but it hasn’t reached level-one evidence, which means double-blind, randomized control trials, which are expensive. No one is funding those studies. We need level-one evidence to convince policy-makers and insurers so that this therapy is offered in schools and paid for by Medicaid.”

Dr. Aisen says research into autism and cerebral palsy takes place in unnecessary silos. “We have two major developmental disorders of the brain that have overlaps. Many with autism have seizures and motor disorders (tics, lack of coordination and decreased muscle tone) and a meaningful number of people with cerebral palsy have symptoms that place them on the autism spectrum. We need to talk and exchange techniques and technologies and leverage resources.”

Other childhood disabilities face different funding challenges. Parents of children with Down syndrome worry that if cases continue to decline as a result of better prenatal diagnostic tools and higher abortion rates, funding to study the condition will dry up.

And then there are rare conditions – like that of my son Ben. When he was born, there were only 60 reported cases of Langer-Giedion syndrome in the world. Rare syndromes have no political leverage unless their study can be shown to shed light on more common diseases. For example, one of two genes deleted in Langer-Giedion syndrome is a tumour suppressor – which has made it of interest to cancer researchers.

Parents of children who can’t speak or gesture understand why a device that decodes likes and dislikes by measuring brain activity ranks as one of the 25 Ideas That Are Changing the World in a Toronto Life Magazine feature this December.

Idea number eight is an optical brain imaging system developed at Bloorview that decodes preference – with the ultimate goal of opening the world of choice to children who can’t speak or move.

Wearing a headband (see photo above) fitted with fibre-optics that emit light into the pre-frontal cortex of the brain, adults were shown two drinks on a computer monitor, one after the other, and asked to make a mental decision about which they liked more.

“When your brain is active, the oxygen in your blood increases and depending on the concentration, it absorbs more or less light,” says Sheena Luu, the PhD student who led the Bloorview study under the supervision of biomedical engineer Tom Chau.

After teaching the computer to recognize the unique pattern of brain activity associated with preference for each subject, Luu accurately predicted which drink the participants liked best 80 per cent of the time.

The work was published in the Journal of Neural Engineering in February and is groundbreaking because preference was detected naturally – from spontaneous thoughts – without training the user.

Most brain-computer interfaces require users to do an unrelated mental task – such as figuring out a math equation or singing a song – to indicate a response such as yes. This can be challenging for a child who doesn’t understand cause and effect or for people with developmental disabilities.

I had a fascinating opportunity to see the latest progress with the infrared brain imaging system last Friday.

Ka Lun Tam, a research engineer in Chau’s lab, demonstrated how thoughts can be used to express intention or activate a switch that controls a computer or communication or household device.

He donned the fibre-optic headband, with a spray of a dozen red and yellow cables cascading down his body. Yellow lines emit light into parts of the brain activated during singing. Red ones detect the amount of light that bounces back.

Then Tam played a computer matching game. Two photos at a time were presented on the screen – things like a cyclist and a swimmer. Sometimes the photos were the same, sometimes different. If the photos matched, Tam sung a fast-paced song in his head. He chose “I want you” by Savage Garden because of its frenetic beat.

When the photos didn’t match, he let his mind go blank.

In the bottom left of the screen, a circle appeared in green or red – green indicated a photo match was detected by Tam’s thoughts and red the opposite. The circles grew from small to large, depending on the strength of the signal.

How did the system know Tam was indicating a match? Singing gave certain parts of his brain a workout, causing oxygenated blood to flood those vessels and absorb more of the infra-red light.

The circles act as feedback for the user, indicating that mental singing – or silence – is triggering the signals.

Tam is still getting used to the system and says that while some days it’s bang on, other times it doesn’t read his mind correctly.

The quick response of the circle – indicating whether or not there’s a match – is surprising, Chau says. “The blood-flow response is slow. It takes about 10 seconds to evolve. So we’re pleasantly surprised that we can generate a channel signal in a couple of seconds. That means the system is detecting a change in blood flow before the entire response.”

Chau says the team will explore other mental tasks that can generate responses. “For example, maybe it’s a child thinking about their pet or a TV show they like.”

While the research is in its early stages, Chau envisions a portable system in future using a forehead sticker with light sensors.

The research is part of Chau’s body-talk research, which aims to give children who are “locked in” by disability a way to express themselves through subtle physiological processes like breathing pattern, skin temperature, heart rate and brain activity.