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Busting Myths and Opinions About Down Syndrome

Down syndrome is one of the most common causes of intellectual disability across the globe. The worldwide incidence of Down syndrome is pegged to be somewhere around one in every 700 liveborn babies. Extrapolating the figure to a ballooning Indian population of 1.2 billion (and counting), the proportion of children with Down syndrome in our country is mammoth. While some of us may know about this condition, it is very likely that all that we know is not right. In this article, I endeavour to debunk myths and create clarity and awareness about this not-so-rare disease.

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Why Does Down Syndrome Happen?

The human body is armed with a blueprint in each cell, stored in the form of super coiled-up structures, known as chromosomes. Chromosomes govern bodily functions and typically appear in pairs of 23, within each cell. Sometimes, however, genetic errors may result in fewer or greater copies of chromosomes, leading to compromised function at the cellular level. Chromosomal errors are commonly associated with mothers of advanced age, although it is untrue that only older mothers give birth to babies with Down syndrome. In fact, a large number of children with Down syndrome are born to women younger than 35 years of age.

How Does Down Syndrome Manifest?

Classically, individuals with Down syndrome have been described as having cognitive delays, learning problems, structural cardiac disorders, endocrinological concerns, visual and auditory impairments, digestive problems, joint and spine laxity and growth issues. They are also prone to early onset memory loss (sometimes as early as 40 years of age), cancers, immunological diseases and sleep disorders.

What Are the Myths Surrounding Down Syndrome?

It is of paramount importance to note that not all individuals with Down syndrome will have all the symptoms listed above. Also, while individuals with the condition do share certain similar physical characteristics, it is untrue that they all look the same. In fact, if one looks closely, a person with Down syndrome usually resembles his own family members more than another person with Down syndrome from another family. I once unwittingly complimented a chuckling infant with Down syndrome, “Ah! You have got your mother’s smile!”, only to witness a beaming, radiant smile from the mother herself!

Most people stereotype individuals with Down syndrome. To clarify, not all individuals with the condition have a severe intellectual disability. Though they generally harbour cognitive delays (ranging from mild to severe), their IQ alone is not true and totally reflective of their individual capabilities. If given the right opportunity, early stimulation and comprehensive medical care, along with a favourable environment at home and school; these individuals can chase impressive goals in their pursuit of ‘success’. Kids with Down syndrome are normally more social and interactive than other children with cognitive impairments or learning disabilities (due to other causes, like say, autism).

However, it is wrong to believe that all individuals with Down syndrome exude a perpetual happy-go-lucky persona. Like us, they too have a range of emotions and feelings, good days and bad days, and their own distinct personalities. With advances in medical care, individuals with Down syndrome can live full and healthy lives; albeit with more frequent health visits and some intermittent illnesses. Most children with Down syndrome benefit from education and training that is integrated with mainstream learning ‘along with other kids’, rather than from being institutionalised at special schools.

Are There Any Success Stories of Individuals With Down Syndrome?

Right from pursuing a Bachelor of Psychology, playing seven musical instruments and being a guest to none other than Oprah Winfrey, to owning a high-end restaurant and being a sports champ, there is little that some of these ‘special’ individuals haven’t achieved. It would be unjust to expect every child with Down syndrome to do all or any of the above, but these examples serve to highlight that the human spirit and human capabilities cannot always be prognosticated based on just an extra copy of a chromosome.

Why Did I Choose to Write On This Topic?

Ultimately, it is the parents’ prerogative to take a decision regarding the continuance of a pregnancy diagnosed as having Down syndrome. As clinical geneticists, we offer a complete picture to affected families and empower parents to take further decisions. In writing this, I intend to make the reader more familiar with the complete clinical spectrum of Down syndrome and highlight the positive (most often ignored) and negative (always spotlighted) aspects in equal measure.

A parent once asked me, “Is the condition called Down syndrome because the name works as an antonym to ‘up’? Does it signify that my child is less privileged or less of an achiever in any way?” I calmly assured the parent that this was not the case. After clarifying that the condition seeks its name from Dr John Langdon Down, who first described the medical condition and its cause, I said, “Your child may be Down, but he is never out!” To this day, those words are true of every case I have ever come by.

Must Read: How do I know if my baby has digestive problems?

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