DOWNS SYNDROME, MORE THAN JUST AN EXTRA CHROMOSOME

When medical technology meets medico-legal suits, the end result can only be a bombshell! My first encounter with this bombshell was in 2005 as a naive medical student, wrapped up in the form of the infamous Terri Schiavo Case.

Terri Schiavo was a happily married 27-year old who collapsed in what was thought to be a cardiac arrest in February 1990. She was aggressively resuscitated and ended up the critical care unit, leading the doctors to declare her as being in persistent vegetative state.

Terri spent the next 15 years in supportive care while court battles raged on 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 gastrostomy tube (a tube connecting the stomach to the abdominal skin that allows food to pass through) with no hope of ever being able to swallow again.

Her husband argued that this was not the quality of life that Terri would have desired and it was prudent to stop the feeds 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 in front of a county judge with a subsequent appeal in the Florida District Court of Appeal. Both upheld Terri’s right to die by ordering that her feeding tube be removed to allow her to die.

The circus began and several court battles ensued, keeping Terri’s life hanging, involving the courts, a battery of specialist neurologists, the Governor of Florida and eventually the President of the United States. When the dust settled, Terri was allowed to die on 31^st March 2005. She was 42 years old, having spent 15 years in vegetative state.

The case dominated the American press for weeks on end. At the time, we were doing our elective rotation in our fifth year of study in the United States and it is all doctors talked about during their breaks in the hospital. 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, Terri would most likely have died before she reached the hospital.

In the past few years, we have made great strides in diagnostic advances. The ugly side of this is slowly beginning to rear its head. And this is in regard to a very special set of babies that we have continued to raise and celebrate over the years. These are babies born with Down’s Syndrome.

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

With this in mind, are we prepared to deal? Do our empowered, independent mommys who are taking it a step further to have ‘designer babies’ have what it takes to handle a pre-natal diagnosis of Down’s Syndrome? This is not a condition that is incompatible with life but requires a well-designed support system for these families. Do we have enough geneticists to handle the aftermath of diagnosis?

There is more to Down’s Syndrome than an extra chromosome in the 21^st 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, hyper-acidity, hypothyroidism, 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 50’s.

However, in as much as we will 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 their IQ is low.

The world is peppered with high achievers born with Down’s Syndrome who make us understand just what great potential they carry. They have made it in Hollywood as world famous actors and actresses such as Chris Burke, Edward Barbanell, Jamie Brewer, Lauren Potter, Luke Zimmerman and Tommy Jessop. They have created beautiful art such as Michael Johnson and Judith Scott. They have even made it in politics such as Spanish Councilwoman Angela Bachiller!

In this case, we must never let the negative aspect of medical technology ruin it for us. Getting a diagnosis of Down’s Syndrome during pregnancy should only mean that we have a head start in preparing to raise these adorable babies and nothing more. For this reason, it is imperative that we encourage these moms and their families when they find themselves expecting bundles of joy that will require an extra hand.

Last week, as we celebrated World Down’s Syndrome Day, it is my hope that you equally celebrated the Down’s Syndrome Society of Kenya as they work tirelessly to ensure that families with Down’s Syndrome babies live every day appreciating the beauty in the stars rather than the darkness they are embedded in!