A magic bullet or a better life?

I read this article in Nature yesterday: Gene hunt is on for mental disability.

The story describes the search for unidentified gene mutations that may cause unexplained forms of intellectual disability.

This scientific ‘hunt' around the world is made to sound very exciting, but the reasons for undertaking it — the potential benefits and outcomes for real people that justify the enormous investment — are a bit murky.

The article notes that in most cases identifying the mutations won't translate into treatment or cures.

However, a scientist quoted says a specific genetic diagnosis is important to parents who haven’t known the ‘why’ of their child’s intellectual disability for years.

For those of you who have a child with intellectual disability — or physical disability for that matter — is that true? How does knowing that my child’s disability results from a mutation in gene x or gene y enable me to improve the life of my child in the here and now? How does parroting an exotic-sounding mutation or rearrangement change one iota the quality of my child’s life — or of the public’s understanding and acceptance of him?

When Ben was three days old, our pediatrician told us that knowing the genetic basis of a particular syndrome, when rare, didn’t often offer up any practical knowledge about interventions that could benefit the child or family. Not enough people had these syndromes to entice drug and other companies to research related treatments.

In our case, having a diagnosis for Ben's rare genetic condition did help me find other families on international genetic bulletin boards who had valuable practical information to share. But I don't think that's what these scientists are after.

Knowing the genetic 'why' didn't help me feel better or help me better support my child — in and of itself.

The Nature article refers to intellectual disability as a disease, but I don’t see it that way. I see it as a different way of experiencing life that is marginalized by mainstream society — in the same way that being gay, being a woman, being black, or being old have been stigmatized.

My son’s intellectual disability does not make him ill. It makes it harder for him to learn in conventional ways. I would never romanticize it, but I would not say it is without advantages. For example, my son is not capable of the deception of ‘image’ that blocks most people with average or Einstein intelligence from truly knowing each other.

Earlier this month I read a fascinating article about Autism Awareness Day in Neurotribes, a blog by investigative and science reporter Steve Silberman.

Silberman questions how dollars are allocated in autism research, noting most go into the ‘hunt’ for a genetic or environmental cause and cure — not to improving the lives of millions of adults living with autism.

"No matter where you stand on the rising numbers, there is one undeniably shocking thing about them," Silberman writes. "Once that 1-in-88 kid grows to adulthood, our society offers little to enable him or her to live a healthy, secure, independent, and productive life in their own community. When kids on the spectrum graduate from high school, they and their families are often cut adrift — left to fend for themselves in the face of dwindling social services and even less than the meager level of accommodations available to those with other disabilities.

Meanwhile, the lion’s share of the money raised by star-studded “awareness” campaigns goes into researching potential genetic and environmental risk factors — not to improving the quality of life for the millions of autistic adults who are already here, struggling to get by. At the extreme end of the risks they face daily is bullying, abuse, and violence, even in their own homes.

…What could be done to make the world a more comfortable, respectful, and nurturing place for millions of autistic kids and adults – now, starting today?”

I think that should be the starting point for investment in research for all types of disability, including intellectual disability: How will this research benefit the lives of people living with these conditions today? Unfortunately, improving the lives of people who are devalued in our culture is a much messier and complicated undertaking than a tracking a gene change in a lab.

Yes, we have to look to the future. But there needs to be a balance between research that has the potential to benefit people decades from now —  and when we're talking rare disorders, it's hard to imagine there being a market to drive that kind of research, ever —  and research that makes a difference to people today.