On World Down Syndrome Day (March 21) whom better to tune into than Brian Skotko, an American geneticist and paediatrician who has dedicated his professional career to service of people with Down and their families? Those people include his own younger sister, Kristin, of whom he said in a recent interview with Science magazine:

I got to see firsthand what it’s like to grow up with an extra chromosome. I learned along the way that some of the struggles are not defined by your chromosomes, but by the community that you live in.

MercatorNet first heard about Dr Skotko in 2005 when his ground-breaking research — as a Harvard Medical School post-graduate student — amongst mothers who had given birth to a baby with Down were published. His findings were a wake-up call to doctors.

These days he is co-director of the Down Syndrome Program at Massachusetts General Hospital for Children in Boston, one of the leading children’s hospitals in the United States. The program’s vision statement reads: Our passion is to provide healthcare, research, and education that contribute to a world in which all people with Down syndrome are accepted, celebrated and have the opportunity to fully realize their potential.

In a brief Q&A with MercatorNet, Dr Skotko gives an idea of how the medical community is doing in terms of that vision. But first, watch the following short television interview and meet the man who is, surely, one of the most effective advocates for people of all ages and stages with Down syndrome.

 

MercatorNet: When your research with mothers who gave birth to children with Down was published almost a decade ago the majority had experienced negative attitudes on the part of doctors. From what parents tell you, have professional attitudes improved since then?

Dr Skotko: Regrettably, I think little progress has been made.  I still hear from new and expectant mothers that the information they often receive about Down syndrome is incorrect, incomplete, and sometimes offensive.

The theme for Down Syndrome Day this year is “Health and wellbeing – access and equality for all”, which implies that people with Down meet with discrimination in the health system. Is that your impression? 

Not all people with Down syndrome have access to specialty clinics.  In the United States, we have 58 Down syndrome specialty clinics in 32 different states, hardly enough to meet the needs of the 250,000 Americans who have Down syndrome.  Until every person with Down syndrome can live to their full potential, our work is not yet complete. 

Of course, the greatest discrimination occurs when babies with Down are denied the chance to be born – in some countries the rate of abortion following prenatal diagnosis has reportedly been as high as 90 percent. Is this still the trend, or has it changed?

According to the research done in the United States–which was conducted more than one decade ago in only three states (Hawaii, California, and Maine–approximately 74% of expectant women who receive a definitive diagnosis of Down syndrome choose to terminate their pregnancy.  More recent data have not yet been published. With the advent of new cell-free DNA prenatal testing for Down syndrome, an open question remains:  will babies with Down syndrome slowly start to disappear? Only time will tell.

Through the program at Massachusetts General Hospital what can you offer people with Down, and their families?

In our Massachusetts General Hospital Down Syndrome Program, we offer a comprehensive annual evaluation for people with Down syndrome of all ages. In short, our clinical experts offer a “tune-up,” making sure that all of our patients with Down syndrome can live their lives to the maximum potential. Our clinical evaluations are age-specific, and families leave clinic knowing that the most cutting-edge resources will be offered. More details at www.massgeneral.org/downsyndrome

Are there drugs which can help? Is it too soon to talk about a cure?

At Massachusetts General Hospital Down Syndrome Program, we are recruiting patients for two clinical drug trials. In each, an experimental drug is offered to willing participants to see if their cognition, language, and working memory might be improved. More details on our research web page at www.massgeneral.org/downsyndromeresearch.

Here is part 2 of the television interview: