Effects Of Down Syndrome In A Family
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 – Effects Of Down Syndrome in a Family
Hannah Stanley: This is Hannah Stanley and you’re listening to Health Professional Radio. Today I’m joined by Dr Brian Skotko, and we’re talking about his research in the field of Down Syndrome, as well as a tremendous breakthrough that’s just been made within the past few weeks. Joining me from Massachusetts General Hospital is Dr Brian Skotko. And tell me again, you told me off air, but please tell all of us what your title is.
Dr Brian Skotko: Hi, Hannah. My name is Dr Brian Skotko and I’m the co-director of the Down Syndrome Program in the Division of Medical Genetics at Massachusetts General Hospital.
Hannah: Okay. Before we get into your research and what has recently occurred, because I cannot wait to talk about this, but tell us for those who aren’t completely familiar, what’s really the core definition of what Down Syndrome is?
Brian: Most of us have 46 chromosomes in every single one of our cells. We get 23 pairs, with one of those pairs coming from our mother and one of those pairs coming from our father. They’re numbered from one down to 22 and then your X chromosome. Someone with Down Syndrome has an extra copy of the 21st chromosome, meaning they have three copies rather than two, giving them a total of 47 chromosomes in every cell.
So in other words, they have an extra dose of genetic material – that genetic material found on the 21st chromosome and with that comes some medical conditions, some challenges in learning. But as many families and people with Down Syndrome would say, it also comes with a lot of life lessons in patience, perseverance and learning how to love.
Hannah: Okay. Similar features are one of the more distinctive qualities about Down Syndrome. It’s typically identifiable by sight for someone very similar, at least a family of features, but also very loving and caring children. Those who I have been around who have Down Syndrome are very cuddly and kind and thoughtful and really, there’s like no meanness in them. Those are what I have noticed about the children with Down’s.
Brian: Many parents who have children with Down Syndrome say that their children teach them a lot of important life lessons. And people with Down Syndrome do share some common characteristics. But at the same time, people with Down Syndrome and their families are also apt to point out that their range of emotions are as diverse as the rest of us. But with that said, my colleagues Sue Levine, Rick Goldstein and I, decided to interview parents and people with Down Syndrome and brothers and sisters around the country to ask, “What is it like to be your family?”
And when we asked mothers and fathers around the country, 99% of them say that they love their child with Down Syndrome and 79% of them said their outlook on life was distinctly more positive because of their child. So certainly the life lessons they’re getting from their son or daughter with Down Syndrome seem to teach mothers and fathers important principles.
The same held true for brothers and sisters. We asked them, “What is it like to grow up with a sibling with Down Syndrome?” 94% said they’re proud of their sibling with Down Syndrome, and 88% said that they were distinctly better people because they had a brother or sister with Down Syndrome. Again, those life lessons in patience and acceptance and perseverance.
Hannah: 87% said they were better people because of their sibling? How cool.
Brian: That’s right, and I think when we ask brothers and sisters, “What is it like to have a sibling with Down syndrome?” they will describe some frustrating moments. They will describe some difficult moments, but the positives far outweigh the negatives for most brothers and sisters. And I think for many people this might come as a shock because some people, I think, wrongly have the perception that the person with Down Syndrome is a burden on their brothers and sisters.
But brothers and sisters have spoken and they have said distinctly that yes, there are some challenging moments. And let’s be frank, there are always challenging moments with all siblings out there whether they have Down Syndrome or not.
Hannah: That’s exactly… yeah.
Brian: But our friends with Down Syndrome do tend to bring extra dosages of perseverance and happiness and love to their families.
Hannah: So this is exceptional. You went and interviewed families and siblings and parents of those with Down Syndrome. Tell me, what was fascinating about it is I think, at least in my world, the knowledge of Down Syndrome and what it means for a family, as you were just explaining. But it’s not that they cannot do things, people who are born with this extra chromosome, it’s merely that it just takes them a little bit longer. Is that correct?
Brian: You know, thanks to advances in medicine, many of the medical conditions that go along with Down Syndrome can be taken care of. [indecipherable 05:09] with Down Syndrome to live longer and healthier and more robust lives. Thanks to advances in the educational system, people with Down Syndrome are being educated in inclusionary classrooms right next to their peers without Down Syndrome. And thanks to advances in employment practices, people with Down Syndrome are gaining jobs that are meaningful to them and meaningful to their communities.
Now this is not to say that our friends with Down Syndrome don’t need and don’t deserve the extra help that they might need. But what they are demonstrating on a day-to-day basis in communities around this country is that they can do it and that they want to do it. My colleagues, Sue Levine, Rick Goldstein and I, decided that the most important interviews that we could do for research is interviewing people with Down Syndrome themselves. We’re all talking about them, but what do they have to say about their lives?
We heard from them around the country and 99% of the people with Down Syndrome said they’re happy with their lives. 86% said they can make friends easily and 96% said they like how they look. Now compare that to the typical population and I think our numbers would be vastly lower. So people with Down Syndrome are saying that they are leading fulfilling lives and they feel like they’re making important contributions to their community.
Hannah: Really, having self-satisfaction is, in my opinion, the most important thing so if they’re happy with their lives, then the rest of us should happy for them.
Brian: When we poll the typical American, only 59% of us say that we’re satisfied with our lives. So when compared face to face, people with Down Syndrome are more likely to be happy with their lives than the rest of us.
Hannah: How interesting. That alone is fascinating and we haven’t even gotten to the good stuff, in my opinion. So I came across some research and reached out to you as close to immediately as was possible. Tell me what is new and exciting and what you guys are on the forefront of, over there at Mass General?
Brian: Well, there was breakthrough in medical science that occurred this past month. It occurred out of Dr Lawrence’s lab at the University of Massachusetts where she was able, with her team, to figure out how to cure Down Syndrome in a Petri dish. So we had talked about Down Syndrome being caused by that extra copy of the 21st chromosome. So in single cells that have three copies of the 21st chromosome in a Petri dish, she and her team were able to figure out how to silence that extra copy, effectively turning three copies of the 21st chromosome into two.
And it was successful and that is jaw-dropping. Now, we have a long way to go before this will be able to be applied in terms of any sort of therapeutic options but it raises the provocative question, I think, for many families and many advocates: if Down Syndrome could be cured, should it be? And there’s a range of responses.
Hannah: Okay, and given what we just spoke about and your expertise in the depth of happiness and development of people who have Down Syndrome and their families and what we don’t know about what this research means, we are facing a very long road of not only ethical questions or I’m sure people who will have some sort of, I don’t know if it’s ethical, but emotional response.
You know, this is how I was born and this is how I should stay. But it’s very interesting to see what other factors would play in, if you were able to turn off Down Syndrome, if those personality traits would still exist, if the happiness would still be there, etc. This is incredible.
Brian: The patients and their families that I take care of at Massachusetts General Hospital have responded in so many different ways, like you discussed. Some family members say, “This is a breakthrough and if it could ever be applied to humans, I would be the first to sign up with my son or daughter.” There are some families who say, “Absolutely I’m not interested in research. My son or daughter is happy the way they are and we don’t need any intervention.”
But the vast majority of mothers and fathers fall in the middle, where they say they love their son or daughter with Down Syndrome, but they don’t fundamentally feel that they need to be fixed. And so they want a lot of questions answered, like will this perhaps help their medical conditions, take away some of the medical conditions that go along with Down Syndrome, but still preserve the essence of who the person with Down Syndrome is.
And the way I respond to all family members is this discussion is healthy. This debate is important, but we’re a long way away before this sort research will ever be able to be applied to humans. So we have a lot of time to debate it.
Hannah: This has been segment one of four of my conversation with Dr Brian Skotko regarding Down Syndrome. Stay tuned for our additional segments. I’m Hannah Stanley and this is Health Profession Radio.
