The weekend of 12-13 March was a glorious time to be in the Swiss mountain resort of Villars-sur-Ollon post-pandemic. Special Olympics Switzerland had organized the regional games sporting competition with skiing, bowling, tennis and boccia, drawing dozens of keen athletes and supporters.

My son joined the other 46 skiers and snowboarders from the region to compete, racing at their top speeds in the ski slalom. It was a weekend full of sporting passion and the best apres-ski ever (dancing after the awards ceremony – with no need for alcohol to shake the booty!). I was so proud of my son who won a gold and of all the other athletes, parents and supporters. Everyone left with a smile, oblivious to the wars in the world.

World Down Syndrome Day

Fast forward a week later to 21 March, World Down Syndrome Day – which we celebrated with events at the United Nations in Geneva and New York City. It’s a day dedicated to people like my son who are born with an extra chromosome. An iconic symbol of the day is the LotsOfSocks campaign, which uses the symbol of mismatched socks as a takeoff point for talking about the needs and rights of people around the world living with Down syndrome.  

In many high and middle-income countries, the proportion of babies born with Down syndrome (also called Trisomy 21)  has decreased in recent years  – due to rising rates of fetal screening of pregnant women of all ages.

According to the European Down Syndrome Association, there are about 417,000 people living with Down syndrome today, while annual live births of Down syndrome babies have averaged around 8,000 – “which would have been around 17,331 births annually, absent selective terminations”. Estimate termination rates, however, still vary widely from 83% in Spain to 0% in Malta. 

With the decline in numbers, the broad public awareness about Down syndrome accumulated over the past half-century, and the recognition that people living with Down syndrome can live full, rewarding lives seems to be fading as well. 

While in some countries, as well as US states, a mother’s right to terminate her pregnancy is sharply limited by law, as part of broader restrictions in abortion rights being fiercely debated as we speak. In others, the question posed by many doctors is not if, but when, the pregnancy will be terminated.

But regardless of the law and ethics around those thorny issues – the question looms even larger for me is the enabling environment – or lack thereof – which we can offer to those children and adults with Down syndrome that are alive now, and will continue to be born regardless.  As the mother of a child living with Down syndrome in high-income Switzerland, the feeling is sometimes that we are part of a group that society would prefer to forget or not see. Lost socks. 

Down syndrome is not going to disappear 

To begin with, outside of Europe and other high-income countries – we lack good estimates of how many babies with Down syndrome are born every year, and how many people with Down syndrome are living in the world today. 

This is despite the fact that Down syndrome is perhaps the most common genetic abnormality to appear right at birth.  Information about the proportion of live births of babies with Down syndrome annually is wildly at variance too, ranging  from as low as one in 700 to as high as 1 in 1000-1,100 – with the latter estimates culled from a  factsheet of the US Centers for Disease Control citing a now-defunct World Health Organization website on genomics and a United Nations webpage on World Down Syndrome Day 2020 – which then proceeds to make the wildly impossible estimate that: “Each year, approximately 3,000 to 5,000 children are born with this chromosome disorder”. 

This is when in fact 6,000 babies with Down Syndrome are born every year in the United States alone.  

So doing the math as a layperson, globally there are 140 million live births per year.  If we take the Down Syndrome International estimate that on average 1 in 800 live births are babies born with Down syndrome, this leaves us with 175,000 new babies with Down syndrome born every year. That’s a lot of extra chromosomes that are not going to disappear anytime soon!

Add to that some other observations of likely trends.  In many lower-income countries, as in wide swathes of Europe, the simple, prenatal blood tests that can identify Down syndrome are not routinely offered to women, and may not even be available. 

And in many other LMICs, termination of birth may be inaccessible, stigmatized or  forbidden by national laws – as is the case in many upper-income countries as well. 

So while it is likely that the proportion of people with Down syndrome may slowly shift in coming decades to become more of a low- and middle-income country issue, the condition is not going to go away. 

And even as access to pre-natal screening increases worldwide, some parents will still choose to bring a child with Down syndrome into this world. In making that choice, they should not be forced to abort due to a lack of awareness about the condition or options for their child to live a rich, meaningful and fulfilled life.  

Like any other rare conditions, the measure of our compassion as a society is also measured in our ability to nurture and care for the most vulnerable – including those with genetic conditions such as Down syndrome.  Enough is enough, stop the ignorance and discrimination. 

Misinformation sets stage for stereotyping 

Awareness about Down syndrome and its implications is the first step towards creating the enabling conditions for a baby with Down syndrome to grow and thrive. 

Unfortunately, such awareness is limited – even in seats of global health leadership like Geneva. 

A search on the website of the World Health Organization (WHO) for information about Down syndrome – beyond the link to the now deceased page on genomics already mentioned, turns up just one two-page explainer – which is, astonishingly, more than half a century old. 

The document, from a 1966 edition of the Bulletin of the World Health Organization states that:   “Down’s syndrome is probably the most common of the severe developmental disorders which permit survival after birth.” However it goes on to add that:  “….The mortality in childhood is very high, and it is likely that about half of those born alive die by 10 years of age.”

If that were the case today, my son would have been dead five years ago. In fact, the average life expectancy today in a high-income country with supportive medical care is approximately 60 years – a huge increase from age 25 in only 1983.  

The United States CDC fact sheet on Down syndrome does little better. It is housed on a page describing birth defects – which is not technically correct.  Down syndrome is a genetic condition – the result of a naturally occurring chromosomal arrangement. 

What needs to be done? 

Clearly better information is a first condition for raising awareness about Down syndrome.  For starters, I suggest that both the United Nations, WHO and CDC scrutinize, fact-check and update their pages!

At the same time, there are a number of robust, worldwide and regional movements of parents and specialists which can provide better resources. These include Down Syndrome International, Global Down Syndrome Foundation, and the European Down Syndrome Association. 

Along with that, we need to look closely at the experience that some countries considered “best-practice” have accumulated with Down syndrome over the past 50 years, and share those policies more widely. 

They include Ireland, the United Kingdom, Canada, Australia, New Zealand and some parts of the USA, as well as South Africa and India – all of which maintain vibrant civil society movements to drive policy change. 

This leads to a key point. These gains have been made because of parents and human rights activists NOT because of the government’s investment into basic, evidence-based research for people with Down syndrome.  Still, anyone, even governments, can learn from these experiences.

Greater dissemination of good practices by UN bodies such as the WHO might also be a first step toward sharing this body of experience with the families of people living with Down syndrome in countries that lack strong enabling policies. Another clever idea to avoid confusion of numbers is to require WHO member states to track the number of births of babies with Down syndrome in the WHO statistics. 

This is all the more important in light of the fact that even as the global proportion of children and adults with Down syndrome may be gradually shifting to lower income countries. These same countries may also lack the years of expertise on early interventions, health care, inclusive schooling systems and work opportunities that have been accumulated in better-resourced societies over the past 50 years. 

The right to thrive – key principles

So what are the key principles that need to be more widely embraced? 

Firstly, people with Down syndrome have the right to live and thrive as much as anyone else. Doctors should be educated to give parents a choice about termination, in light of the best information about resources that are available. 

However, the focus of public debate on the issue of termination, and with it, a greatly polarized legal and ethical debate is also a big mistake. It diverts attention from the needs of the already  living and breathing children and adults who are too often ignored and shunted aside by society.  

What is needed, instead, is a suite of enabling resources that are adapted across the life-cycle, from access to early childhood interventions to inclusive schools. In later life, support and networks are required to create options for inclusive workplaces and living situations that also foster independence, including social connectivity and options for appropriate, adult intimacy and expressions of sexuality, as this video celebrating World Down Syndrome Day 2022 illustrates.

Suite of interventions

The suite of interventions looks something like this: 

Post-natal support: The extra chromosome was a birth-day surprise! There was no support given, possibly the doctor’s way of announcing that Down syndrome was horrible. I was left to search the internet and order books to try and learn more. This led me and three other women to create a model ‘Premiers-pas’ welcome suitcase for new mothers of babies with Down syndrome, full of little gift items and helpful resources. The aim of the suitcase is to congratulate and support the family in their first steps (in French, premiers pas) of this “extra-ordinary” journey.

Early childhood: Even in high-income Switzerland, with a strong social-service system, as the parent of a toddler with Down syndrome, I had to search for support. I was fortunate to be able to get access to a suite of early childhood interventions including: physiotherapy, ergotherapy, speech therapy and specialist health care but not everyone is as fortunate as us.

Inclusive schools: Inclusive schools are the best way for ensuring that kids with Down syndrome learn to participate in society, and eventually can work and live independently. In Switzerland, each local regional government unit (Canton) is different, while some, like my own Canton of Vaud, have 50-100% inclusive education with a teacher support staff, as of 2022, the Canton of Geneva, the hub of the global health world, is still strongly advising that parents send kids as young as 6, who are speaking, reading, and writing (at their own speed) into institutions. 

This runs contrary to the UN Convention on the Rights of Persons with Disabilities (CRPD) but that doesn’t seem to make a difference.

Teacher training curriculum that considers “inclusive teaching” as the norm – is as important as the school structure itself.  Teachers trained in inclusivity can communicate with children with Down syndrome as well as those with other types of learning difficulties. At the same time, as it’s important for a child to be exposed, as much as possible to “mainstream” school environments, dedicated special needs professionals and programmes can be an important complement. It works both ways, the other kids at the school learn that we are all different, and that difference is the new norm. 

Global evidence-based guidelines exist regarding the right balance, which may vary from setting to setting. Most often, governments and societies are unaware of these or ignore them.  

Speech therapy: One of the hardest things for people with Down syndrome is to be able to express themselves verbally, and to be understood (imagine speaking with a marshmallow in your mouth!!!). Yet, too often, not enough investment is made into this vital skill – and students that struggle can be penalized even more.  This is what happened to my son, again in high-income Switzerland, when he went from having two hours of speech therapy per week to 45 mins – because “he wasn’t making enough progress”!  

If speech and communications aren’t developed at a young age, how can a young adult ever begin to move around independently or hold onto a job in a not closed setting? 

Safe, liveable cities and neighborhoods with opportunities for healthy physical activity and mobility. I’m lucky to have my son picked up by a school taxi in the morning three days a week, for a ‘special education’ school. On the other two days, he goes to his ‘mainstream’ school by himself on the train, walking to school and home again in a village. I can track his movements with the GPS on his iPhone so he is able to gradually expand his autonomy and independent mobility, including small tasks like checking to make sure he has his ticket for the ride, or change to purchase a drink at the kiosk. Keep in mind, however, that such safe, linked-up mobility is not only important for children and adults with Down syndrome – it is critical to healthy societies more generally. 

Health: As we have known about Down syndrome since it was first described medically in 1866, we also know a great deal about its main health conditions. This means that public health systems need to equip parents with a well-documented health check-list to ensure good health practices are available. And as that, too often, is missing, Not all doctors are aware of everything, but digital solutions can fill many gaps. One example is a DSC2U, a new virtual online clinic created by Massachusetts General Hospital only last year to guide parents and doctors alike. It would be great if such a resource, and its related medical guidelines and the health recommendations, could be duplicated much more widely.  

Working: Employers are missing opportunities. Given the right opportunities, training and support, people with Down syndrome can make a very considerable contribution in the workplace – filling many routine jobs with positive energy and an ethic of reliability – in exchange for an offer of “decent” work, pay and real inclusion. Some civil society associations like WorkFit in the UK are making huge inroads on the employment scene, from which other countries could learn. Hiring just one person with Down Syndrome creates a “virtuous chain” which other potential employers observe and imitate, as this great video illustrates, performed by STING, published on World Down Syndrome Day 2021.

Independent living solutions:  The Canadian Down Syndrome Society offers a very diverse array of creative living arrangements and approaches, from independent living to group homes and long-term care homes for those needing more support.  It also incorporates training for independent living based on the innovative Italian approach on ‘Education for autonomy’. 

The main take-home point is this: The sooner you start encouraging autonomy in people with Down syndrome the easier it becomes. Independent living isn’t just a space in a house or apartment to sleep, it’s the ability to make real-life decisions and take control over one’s own life, for example who to live with, where to live, how to live. 

Think about it….

Most of the health and well-being solutions that are absolutely critical to children and adults with Down syndrome – are just as important to a range of children and adults with many other forms of disability – as well as to those of us who consider ourselves completely “normal” and “healthy.”  

These also are the types of educational, health and social solutions that we need to promote across the life cycle, in what WHO has long described as the very definition of good health – as “a state of complete physical, mental and social well-being and not merely the absence of disease or infirmity.”

Conversely – in a world where we see fresh horrors of war and violence unfolding on our television screens every night, it’s worth considering one more point: when was the last time you heard about someone with Down syndrome starting a war – or becoming a serial killer? 

As Michelle Sie Whitten, Executive Director, Global Down Syndrome Foundation, noted in a recent blog, we are really talking about the “Story of Two Syndromes.” Just a few decades ago, she observes, most people with Down syndrome in the United States were placed in institutions, even as infants or young children:

“People considered it impossible for them to learn to speak properly, let alone read or write. Today, the average lifespan of someone with Down syndrome is 60 years old. By and large, people with Down syndrome now live at home (versus an institution). Their IQs have increased 20 points and the overwhelming majority will learn how to read and write. Most are attending public school and some are graduating with a typical degree. There is a handful who have gone on to achieve college degrees. More and more are holding down jobs.”

I’d add one more observation. Most people with Down syndrome, when given the opportunity to be stimulated by education, gainfully employed and live in decent housing within networked communities  – also have the rare capacity to respond to the small daily experiences of life with a smile on their faces, smiles that many of us struggle to maintain throughout our day. Smiles like the ones I saw at that Special Olympics event in Villars. 

Perhaps we need more people like this in the world, not less. 

 

Jillian Reichenbach Ott is the mother of a 15-year-old boy with Down syndrome and the focal point of the European Down Syndrome Association (EDSA) for Switzerland’s French-speaking region.