A few thoughts on the DS-Connect registry.

There is a government registry of people with Down syndrome that purports to provide "an important resource to individuals with Down syndrome and their families," and to link "those seeking volunteers for their research studies with those who most stand to benefit from the research."

"Wow, great!" you might think, "What research?"

Well. At first glance the "Goals of NICHD Research on Down syndrome" seem to have some reasonable, important points: such as research into leukemia and heart disease as well as assessing real world access to healthcare. Incredibly important stuff, that. But.

But:

• Causes, pathophysiology, and disease progression. Topics include aging and Down syndrome, the effect of cellular and molecular processes on symptoms, and cognitive functioning in model mice.
• Diagnosis, screening, and functional measures. Goals in this area include improved characterization of Down syndrome phenotypes, investigation of measures of cognitive function throughout the lifespan, and better linkage between human and mouse studies.
• Treatment. This topic area includes testing orphan drugs, measuring the impact of early intervention on cognitive development, and using Alzheimer's disease research to inform potential therapeutics.
• Comorbid medical and psychiatric conditions. Research explores treatment and management of such conditions as leukemia, congenital heart disease, and dementia.
• Living with Down syndrome. Studies cover a broad range of issues, such as tracking real-world outcomes for families living with Down syndrome, health disparities in access to care, and interventions for transitional stages.
• Research infrastructure. Efforts include promoting the inclusion of people with Down syndrome in a range of NIH-sponsored clinical trials, building tissue and brain banks, and improving availability of animal models.

 
Even without picking apart the language as I'm wont to do and as is sorely needed in this textbook medical-model document, what is it that's really there? How many of these points center on something relating to cognitive function, or cognitive development?

From this document it emerges that there is no difference, diversity, or divergence in cognition, just cognition that is the issue in Down syndrome. Which is Down syndrome, while other stuff is co-morbid. Much effort and much emphasis is on research to do with affecting cognition or its development.

Here are a few examples of what's made it into mainstream and professional media about the current research efforts and Down syndrome (that isn't about prenatal detection of Ds):

IQ-Boosting Drugs Aim to Help Down Syndrome Kids Learn

Can Down Syndrome Be Treated?

People With Intellectual Disabilities Get a Say in Drug Trials

New Drugs May Transform Down Syndrome

A Drug for Down Syndrome

Yet, often the registry is sold - meaning that enrolling a child, or a dependent (I assume no effort has been made to make the process accessible for people with Down syndrome themselves, or at least I couldn't locate an accessible enrollment process on the site?) is strongly encouraged with talk of "improving" a person's quality of life - with research on Alzheimer's and dementia, heart defects, and leukemia, which are often issues that literally do diminish one's quality of life, unlike intellectual disability.

We all know that talk of cognitive research is a mine field still.

On one end of the continuum of thoughts on this debate, there are people who cannot understand why someone wouldn't want to have as 'typically developing', 'independent' and sometimes even as 'socially acceptable' a child as possible if they had the chance, and on the other end there are those who believe that their children are exactly who they were meant to be and wouldn't imagine doing anything that might alter what they understand as their kids' 'essence' in any way.

But it's not only about what the parents say and most definitely shouldn't be, perhaps at all (another post, on guardianship, coming soon). There are people with Down syndrome who say that they are proud of who they are just the way that they are and regardless of their perceived intellectual disability wouldn't want to change their cognition, and there are other people with Down syndrome who would like help in making their "brain better" (at least in the studies in this link, there's emphasis on listening to the actual participants and making sure they want to participate, and that they understand what they're participating in and why.)

The DS-Connect registry is sponsored by National Institutes of Health (NIH) which state that "In developing DS-Connect™, the NIH listened to information and expertise provided by families of people with Down syndrome, researchers who study Down syndrome, and other members of the public" (My emphasis).

If I had a genetic condition someone was creating a registry about, I'd want to have been offered the chance to be heard, not just those around me. But that's just me, I like to have a say in matters that directly affect me.

I can only speak for myself, and only hypothetically, since I don't actually have Down syndrome, or another genetic condition that there is a research registry about. But I do know that I wouldn't want to change my cognition. I like my cognition fine the way it is and yet basic math overwhelms me, something I don't mind especially or would want to change. Why would I? My inability to do basic math has worked and still constantly works to steer me to humanities. Something I wouldn't change for the world. It also allows for me to delegate every single task in our household involving calculations to my husband, and leaves waiters loving me when I accidentally tip them 60% if I don't use an app to calculate the tip.

Maybe I would feel differently if the world kept telling me that there was something wrong with my cognition, instead of helping me out when numbers overwhelm me? But wouldn't that mean that I should be getting angry at the world for telling me such lies instead of trying to make myself more tolerable to others, or instead of wanting to provide brain tissue samples so that researchers could study my difficulties with fractions in hopes of treating them?

Where do we draw the line between medical and social?

I don't know if my child would or will consent to being part of  the DS-Connect registry, and I can't know whether the data I might be able to view would be data collected after consensual participation by the person with Down syndrome. So that I, as a parent not involved in any kind of research, can view "similarities"?

This should not be a debate or a discussion of whether Down syndrome should or can be "treated" and whether that's something one supports as a course of action, this should be a discussion on what makes us think and believe that intellectual disability (so not leukemia, not heart defects, not celiac disease, not hypothyroidism) is a pathology that consists of impairments that should be done away with with different kinds of chemical and physical interventions to the greatest possible extent, instead of accommodating for differences in cognition, ability, and memory.

If we call them challenges, the narrative of overcoming is sure to tag along.

I'm not willing to compromise the kind of world we live in. I'm not willing to say "I'll take the trickle of good research efforts focusing on actual medical issues with the river of what is sold as suffering from mental deficits and lack of independence." I'm not willing to set aside my disgust at the rhetoric of "treating Down syndrome" and "improving" those with memory and cognitive deficits for what, if anything, might emerge about treating childhood leukemia, sleep apnea, or congenital heart defects.

Research efforts don't take place in a vacuum. They help shape people's perceptions, especially when they make the news. If we keep telling the world that we welcome "medical solutions" to this "problem of cognitive deficits" what are we really doing to people with Down syndrome? To acceptance? To inclusion? To equality? To civil rights and liberties?

What the research can all too easily imply and promote is that intellectual disability is a "medical problem" in need of a "fix", "treatment" or a "cure" instead of the result of a society that considers intellect, and alongside it a specific kind of independence, as inherently valuable as well as a necessity, with that specific kind of independence as proof thereof, for something like "adequate survival" in life. This is something that we need to think about, consider, and discuss. We need for people with Down syndrome to take the lead.

What exactly are we putting out there about Down syndrome, and about people with Down syndrome?

Maybe I am throwing the baby out with the bathwater and being unfair to my own child. That's a thought I'm definitely considering constantly as I muddle along on this path of parenthood. I want to look at this, as I do most things, from all angles, and I want to do right by my kid and others with Down syndrome. There's also the chance that I'm telling the world that "people with Ds count, and that we want more for them," by not buckling under the pressure to sign someone other than myself, who really should have her own say about this once she's able, up for something that just might end up reinforcing perceptions of her as a lesser being who should be treated, fixed, and improved or at least mitigated as soon as possible.

I'm not inciting a revolt against the registry, I'm simply telling you why I personally find it difficult to jump in head first, especially since I don't have my daughter's guidance on this just yet, into those murky waters that end up splashing all over mainstream news and thus greatly shape thinking and eventually the way that people with Down syndrome will be viewed in society, professionals and researchers included, and why I think the entire foundation of the registry, the process as well as the forces that brought it about need much further consideration. I am outlining my concerns in response to the, frankly rather ridiculing assumption that I'm either "overwhelmed" by paperwork, or that I find the registry "creepy" or "complicated" in some Big Pharma conspiracy-theory way, since I haven't signed my kid up yet.

I'm not denouncing the registry entirely either, I simply think that instead of our gushing support and guilting rhetoric to round up participants, it would be nice to see pressure placed on those consortium members who are, after all, the representatives of those at the center of this, individuals with Down syndrome. For them to keep listening to those they represent, and to actively constantly assess whether what's happening is in their representees' best interest, and how it will influence all areas of their everyday existence in society.

That's not something I've witnessed at this point. I sincerely hope I just haven't been looking hard enough.

Checks and balances aren't in place with the registry just yet. Fundamental concerns remain largely unaddressed. Certain efforts seem misplaced and misguided. I'd like to see more discussion about the basics, about the directions of research, about consent and need. About agency and voice. About people with Down syndrome, not about "families living with Down syndrome."

Here's a story you might find interesting (by which I mean horrifying): Forced sterilizations of "feebleminded" people were carried out in the US in hopes of eradicating said "feeblemindedness" and creating a kind of a super race. A public policy that was cited by Nazi doctors, in their defense, during the Nuremberg trials.

Are we still hung up on a super race, a member of which never needs assistance with anything? Just not actually using the words super or race, but independence, intellect, and productivity instead? Where does medical stop and social begin and vice versa?