Down syndrome: More than just an extra chromosome

In 2005, when I was a naïve fifth-year medical student on elective rotation in the United States, I was enthralled by the infamous Terri Schiavo case which dominated the American press for weeks on end.

Terri Schiavo was a happily married 27-year-old who collapsed in what was thought to be cardiac arrest in February 1990. She was aggressively resuscitated and ended up at the critical care unit, where doctors said that she was in a persistent vegetative state.

Terri spent the next 15 years in supportive care while court battles raged between her husband, the designated guardian, and her parents about whether she should be kept alive or allowed to pass on. Hearing after hearing culminating in rulings, appeals, overturned rulings and upheld ones became the story of Terri’s existence.

Terri failed to regain swallowing function despite advanced technological treatments. She was fed via a tube connecting the stomach to the abdominal skin that allowed food to pass through, with no hope of ever being able to swallow again.

Michael, her husband, argued that this was not the quality of life that Terri would have desired and it was prudent to stop the feeding and let her die.

Her parents argued that Michael only wanted Terri dead so that he could inherit a tidy sum of money.

The case was first heard by a county judge, followed by an appeal at the Florida District Court of Appeal. Both courts upheld Terri’s right to die and ordered that her feeding tube be removed.

SEVERAL COURT BATTLES

After several court battles that drew in a battery of specialist neurologists, the Governor of Florida and eventually the President of the United States, Terri was allowed to die on 31st March, 2005. She was 42 years old, having spent 15 years in vegetative state.

The irony of it all was not lost on me. Technological advances in medicine that were intended to save life were the cause of so much turmoil. Back then, in our resource-limited setting here in Kenya, Terri would most likely have died before she reached the hospital.

In the past few years, we have made great strides in diagnostic technology and the ugly side of this is slowly beginning to rear its head, with regard to a very special set of babies – those born with Down syndrome.

With the advancement of prenatal screening, mothers now have an opportunity to know whether their babies carry the Down syndrome gene or not from 16 weeks of pregnancy. With advanced maternal age being a risk factor for Down syndrome and more mothers starting their families a lot later than before, it follows that there is an increase in prenatal diagnosis of Down syndrome.

With this in mind, are we prepared to deal with the diagnoses? Do our empowered, independent mummies who are taking it a step further to have ‘designer babies’ have what it takes to handle a prenatal diagnosis of Down syndrome?

This is not a condition that is incompatible with life, but it requires a well-designed support system for the families involved.

Nvertheless, there is more to Down syndrome than an extra chromosome in the 21st pair. These lovely babies come with an array of medical complications, but there is more to them than that.

 Yes, they may have intellectual challenges, muscle weakness in infancy, possible heart defects and intestinal abnormalities. They will probably suffer wheat intolerance, hyperacidity, hypothyroidism and hearing, speech and vision problems. They have an unfairly elevated risk of developing leukaemia (blood cancer) and may develop Alzheimer’s disease when they are only in their 50s.

However, in as much as we easily identify them by their characteristic features such as a smaller head that is flattened at the back, a flatter nasal bridge, upward slanting eyes, a cute little button nose and mouth with a protruding tongue, short arms, hands and little finger, dry skin and overly flexible joints, we should not be quick to assume that they have low IQ.

The world is peppered with high achievers born with Down syndrome who make us understand just what great potential they carry.

They have made it in Hollywood as world famous actors and actresses (Chris Burke, Edward Barbanell, Jamie Brewer, Lauren Potter, Luke Zimmerman and Tommy Jessop). They have created beautiful art (Michael Johnson and Judith Scott). They have even made it in politics (Councillor Angela Bachiller in Valladolid, Spain).

Getting a diagnosis of Down syndrome during pregnancy should only mean that we have a head start in preparing to raise these adorable babies and nothing more.

We must never let advance knowledge through medical technology ruin it for us.

It is imperative that we encourage mums of children with Down syndrome and their families when they find themselves expecting bundles of joy that will require an extra hand.

In support of World Down Syndrome Day which was celebrated last Wednesday, we should support the Down Syndrome Society of Kenya as they work tirelessly to ensure that families with Down syndrome babies appreciate the beauty in the stars, rather than the darkness they may be embedded in.