Syndrome, Massachusetts General Hospital, Massachusetts discussed on Weekend Observations
Today about down syndrome, and I am joined by Dr Brian Scott, go with the with Massachusetts General, and please tell me again, you are titles. So I do not do not under sell you. Thank you. I am the co director of the down syndrome program and the division of medical genetics at Massachusetts General Hospital, and you are on one obviously, given your title, and you did share that your sister. And who is now in her thirties has down syndrome and MRs 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 multiple interviews with families of with siblings and children who have down syndrome, and you've spoken to people themselves who have down syndrome and the incredible thing. I would love for you to go back over those those numbers again that verses? Versus society as a whole people with down syndrome seem to be much happier with their lives the threat, my colleagues Levin wrikled, even I decided the most important people we need to hear from our people with the condition themselves people with down syndrome, so we said surveys to people with down to Newman their families from around the country, and we heard back from hundreds of them in ninety nine percent of people with down syndrome that they're happy with their lives and eighty six percents that they can make friends easily ninety six percents that they like how they look now if you ask the typical population people like you or me Hannah only fifty nine percent of us say that we're happy and satisfied with our life. So when compared back to back people with down syndrome, say more happy and satisfied with their wives and the rest of now if you can tell me what is the actual percentage of population. Or the rankings of of those born with Down's syndrome. How how how common is it? About one baby with dancing your mobile. Born for every eight hundred thirty difficult babies, and we have to be there's about two hundred fifty thousand Americans living with them today. Okay. Which is relatively small sample size. When you compare it to cancer or diabetes at this point. The open question becomes as what impact is prenatal decision. Making making on the numbers of babies with down syndrome or babies with down to them, slowly disappearing as more and more expecting couples are choosing to terminate pregnancy. The latest research shows in the United States about fifty percent of all Davies with been born on actually being born and the provocative question is that there are fewer and fewer Americans with down syndrome being born. We know the government start paying attention to disappearing population. And therefore Luntz research breakthrough will go on because there's less funding there which really race against the clock. The prime has never been more promising for people with down syndrome as new genetic and therapeutic discoveries are being made, but comes at a time when because personal decision the numbers of people with in the Middle East that you babies are starting to disappear. Which is fascinating. Because sciences is. A double edged sword at this point because it's allowing parents to make that choice and at an earlier at an earlier stage, but it's also, and you mentioned before those medical conditions that would go along with and a down syndrome diagnosis or being born in down syndrome are not they're able to be handled really for the most part or or at least their severity can be diminished. And so it's not the same the same diagnosis as it was twenty five fifty years ago. That's right down syndrome. Today's remarkably different than down syndrome of yesteryear. And I have to say the future is going to be even better. I think the best is yet to in Fifi is now a reality. We are about to start to major clinical trials here at Massachusetts General Hospital using to experimental drugs from the company's Roche and these drugs whole promise of improving the inflexible copies of people with down syndrome and potentially staving off all timers disease, which goes along with him syndrome, so Down's syndrome used to be a condition that no one paid attention to. And there was no research, and what do we do with that? But now we actually have clinical trials so people with down syndrome just like the rest of the population has clinical trials if they want them all on tier to see if new drugs can be discovered. So it is fascinating to me in a very sad way. How down syndrome was was frequently dealt with in the fifties. And sixties where those children were born and very often institutionalized. And given what we now know that was. Very rarely an assessing. You're right. People to have remarkably new opportunities today more possibilities, but not because of heritage include. They are it's because of inherent changed approved the rest of far we have replaced limitations with expectations for people with down. And they have risen 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 debating societies have always allowed our people to become the final arbiters about their identities African Americans. Of course, they're here. Dignity during the civil rights movement of the nineteen fifties and nineteen sixties women. Of course, showcase their personal value regarding one's gender during the women's suffrage movement. He can of the twentieth century the Jewish people rebuilt to reclaim their identities. After the holocaust of my skin's are, of course, cleaning pride around civil rights movement of this century. We'll now it's people with down syndrome. Who have joined the debate about the round condition and Mike groups before them their self descriptions contracts into the ways in which others might describe them. So an open question becomes how are thought side? Ultimately going to define down. And we'll be my people with the condition to find themselves. Fascinating take on that. And as you mentioned the numbers of that sample size will say of people who are actually being born with with down syndrome is in fact diminishing, which is which is a an oddly timed phenomenon given that the the future has never been so bright for this diagnosis, given and the research and medical science that is available for the conditions that go along with it. And also for for what we're seeing as far as the research, and that is again, and I'm going to talk about this first second more. But again in the only the Petri dish, it is that that extra chromosome has been silenced. And and turned off in the Petri dish. We're talking today when Dr Brian Scott co of Massachusetts General who. For for for Meena butchering his title, basically runs. The department you and your colleague run the department for down syndrome research at -chusetts general, but one of your colleagues, and has has a isolated and been able to silence and turn off that extra chrome. Is that extra the extra gene on the twenty chromosome is actually no extra chromosome for that whole extra copy of the twenty per chromosome in al-baji that are on unbelievably fascinating for those who want to follow along at home. Is there a website or Facebook page or something that they can get more information on what you do.