The Study About Downs Syndrome
Presenter: Hannah Stanley
Guest: Dr. Brian Skotko
Guest Bio: A Board-certified medical geneticist and Co-Director of the Down Syndrome Program at Massachusetts General Hospital, Dr. Skotko has dedicated his professional energies toward children with cognitive and development disabilities.
Transcription
Health Professional Radio
Hannah Stanley: This is Hannah Stanley and Health Professional Radio. I continue my conversation with Dr. Brian Skotko of Massachusetts General Hospital, a leading expert in the field of Down syndrome. He’s talking with me today about a recent discovery that could absolutely change the entire landscape of what we know Down syndrome is today.
Dr. Brian Skotko: For example, here in Massachusetts, every time I’m talking to a family that has an expected diagnosis of Down syndrome, I offer them the connection to the Massachusetts Down Syndrome Congress, which is the nonprofit Down syndrome group here in Massachusetts. They have someone available 24/7 speaking every language possible. It can be matched based on religion or not, some demographics or not, where they’re located or not, and they’re happy to talk to those families and answer what questions they want.
But I always say to the expecting parent, it is up to them if they want to make that call and when they want to make that call. My job is for them just to know that this valuable resource exists.
Hannah: Incredibly valuable. We are talking today about Down syndrome, and I am joined by Dr. Brian Skotko with Massachusetts General. Doc, please tell me again your title so I do not undersell you.
Brian: Thank you. I am the co-director of the Down syndrome program in the division of medical genetics at Massachusetts General Hospital.
Hannah: And you are on one – obviously, given your title and you did share that your sister, who is now in her thirties, has Down syndrome, and this is, I‘m guessing, where your interest came into play. But you are involved with so many people with cutting-edge research. You’ve done multiple interviews with families, with siblings and children who have Down syndrome, and you’ve spoken to people themselves who have Down syndrome.
The incredible thing, and I would love for you to go back over those numbers again – that versus the society as a whole, people with Down syndrome seem to be much happier with their lives.
Brian: That’s right. My colleagues, Sue Levine, Rick Goldstein and I decided the most important people we need to hear from are people with the condition themselves, people with Down syndrome. So we sent surveys to people with Down syndrome and their families from around the country, and we heard back from hundreds of them. Ninety-nine percent of people with Down syndrome said they’re happy with their lives, and 86 percent said they can make friends easily, and 96 percent said they like how they look.
Now, if you ask the typical population, people like you or me, Hannah, only 59 percent of us say that we’re happy and satisfied with our lives. So when compared back to back, people with Down syndrome say they’re more happy and satisfied with their lives than the rest of us.
Hannah: Now, if you can tell me what is the actual percentage of population or the rankings of those born with Down syndrome? How common is it?
Brian: About one baby with Down syndrome will be born for every 830 “typical” babies. We estimate there’s about 250,000 Americans living with Down syndrome today.
Hannah: Okay – which is relatively small sample size when you compare it to cancer or diabetes at this point.
Brian: The open question becomes is what impact is prenatal decision-making making on the numbers of babies with Down syndrome? Are babies with Down syndrome slowly disappearing as more and more expecting couples are choosing to terminate pregnancy? The latest research shows in the United States, about 50 percent of all babies with Down syndrome that could have been born are actually being born.
And the provocative question is if there are fewer and fewer Americans with Down syndrome being born, will the government start paying less and less attention to a disappearing population, and therefore less research breakthrough will go on because there’s less funding? So it’s really a race against the clock. The time has never been more promising for people with Down syndrome as new genetic and therapeutic discoveries are being made.
But it comes at a time when, because of personal decisions, the numbers of people with Down syndrome, at least the new babies, are starting to disappear.
Hannah: Which is fascinating, because science is a double-edged sword at this point, because it’s allowing parents to make that choice at an earlier stage. But it’s also, as you mentioned before, those medical conditions that would go along with a Down syndrome diagnosis or being born with Down syndrome are able to be handled, really, for the most part, or at least their severity can be diminished. So it’s not the same diagnosis as it was 25, 50 years ago.
Brian: That’s right. Down syndrome today is remarkably different than Down syndrome of yesteryear, and I have to say Down syndrome of the future is going to be even better. I think, but that is yet to come. And sci-fi is now a reality. We are about to start two major clinical trials here at Massachusetts General Hospital using two experimental drugs from the companies Roche and Elan.
And these drugs hold promise of improving the intellectual capacities of people with Down syndrome, and potentially staving off Alzheimer’s disease, which goes along with Down syndrome. So Down syndrome used to be a condition that no one paid attention to and there was no research, and what can we do with that? But now we actually have clinical trials of people with Down syndrome, just like the rest of the US population has clinical trials, if they want to volunteer for it to see if new drugs can be discovered.
Hannah: It is fascinating to me in a very sad way how Down syndrome was frequently dealt with in the ‘50s and ‘60s, where those children were born and very often institutionalised. Given what we now know, that was very rarely a necessity.
Brian: You’re right. People with Down syndrome have remarkably new opportunities today, and more possibilities, but it’s not because of an inherent change in who they are. It’s because of inherent change of who the rest of us are. We have replaced limitations with expectations for people with Down syndrome, and they have risen to that occasion. You know, at the end of the day, I think it becomes a human rights question, which is something that needs to be debated.
Societies have always allowed our people to become the final arbiters about their identities. African Americans, of course, asserted their inherent dignities during the Civil Rights Movement of the 1950s and 1960s. Women, of course, showcased their personal value regarding one’s gender during the Women’s Suffrage Movement.
Beginning of the 20th century, the Jewish people rebuilt and reclaimed their identity after the Holocaust, and gays and lesbians are, of course, claiming pride through their own civil rights movement of this century. Well, now it’s people with Down syndrome who have joined the debate about their own condition. Like groups before them, their self-descriptions contrast into the ways in which others might describe them.
So an open question becomes, “How is our society ultimately going to define Down syndrome, and will they let people with the condition define it themselves?”
Hannah: Fascinating take on that. As you mentioned, that sample size, we’ll say, of people who are actually being born with Down syndrome is in fact diminishing, which is an oddly-timed phenomenon, given that the future has never been so bright for this diagnosis, given the research and medical science that is available for the conditions that go along with it. And also for what we’re seeing as far as the research that is – again, I’m going to talk about this for a second more – but again, only in a Petri dish. That extra chromosome has been silenced and turned off in the Petri dish.
We’re talking today with Dr. Brian Skotko of Massachusetts General, who for me not butchering his title, basically runs the department. You and a colleague run the department for Down syndrome research for Massachusetts General. But one of your colleagues has isolated and been able to silence and turn off that extra gene on the 21st chromosome?
Brian: It’s actually the whole extra chromosome. So that whole extra copy of the 21st chromosome and all the genes that are on it.
Hannah: Unbelievably fascinating. For those who want to follow along at home, is there a website or a Facebook page or something that they can get more information on what you do and those clinical trials and things like that?
Brian: Absolutely. Our clinic’s web page is www.MassGeneral.org/DownSyndrome. You could also follow us on our Facebook page, and we send out daily tweets. So you could even follow us on Twitter.
Hannah: I love Twitter. I did not think I would ever say that phrase, but it is so fascinating to build communities, especially something like this, where you can keep cutting edge on what’s happening in research such as this or other medical discoveries. It’s incredibly fascinating. This has been segment three of four of my conversation with Dr. Brian Skotko. I’m Hannah Stanley, and this is Health Professional Radio.
