Transcript
Hello and welcome to the If We Knew Then podcast. I’m Stephen Saux.
0:33
And I’m Lori Saux.
0:35
And today we’re joined by Dr. Tom Mahan. Tom specializes in Alzheimer’s research with a focus on individuals with Down syndrome. Tom is a father of three boys, and his oldest son, Teddy has Down syndrome. And Teddy really sparked Tom to take his already existing research of Alzheimer’s and guide it and focus it on individuals with Down syndrome. Alzheimer’s is one of those things on that list that we’re given when our children are born. It’s something that many of us parents think about. Well, we know Knowledge is power. And with this research and knowledge, we have the ability to grow and evolve and work towards finding a cure for all individuals with Alzheimer’s. This is an eye opening conversation. But it’s a conversation for us. That brings a lot of peace of mind and ease. Because just the fact that our community is now a part of that conversation is proof that the evolution of humanity is alive and well to changing the narrative of Down syndrome. So please welcome Dr. Tom Mahan.
1:44
Hello, Tom. Hey, how are ya?
1:47
Good. Good to see you.
1:48
Yeah. Nice to meet you guys. Thank you so much for having me today.
1:52
Oh, no, we were really excited when we we heard about you and then read about you and then really wanted to have you on?
1:59
Oh, thank you. Appreciate it.
2:01
We heard about you through Ben cues, because you are going to be presenting that one of the DSDN retreats. Well, you know, I should probably let you talk more about yourself.
2:15
Yeah, hopefully, I think you Yeah. So. So yeah, so the DSDN retreat is coming up here in a few weeks here in St. Louis, Missouri, which is where I’m currently located. And so it’s going to be bringing dads from all around the country here to St. Louis. And so I’m going to be talking about a little bit of my research, which focuses on how Alzheimer’s disease develops in Down syndrome. But also just also talk a little bit more broadly about some of the different scientific research that’s being done to better understand Down Syndrome and also talk a little bit about some of my own personal experience with my son, who has Down Syndrome and one of the actual research opportunities that he had, where he actually was part of a study looking at neuro imaging. And he was actually involved in that as an infant. And so I’m going to talk a little bit about, you know, some of those those different research opportunities and some of the personal experience of having gone through that as well.
3:14
Now, you started researching Alzheimer’s before your son was born, correct? Yeah, correct.
3:19
Yeah. For about five years before my son was born, I had been researching Alzheimer disease. And so when he was born, it was kind of one of those things for me that, you know, there was, you know, the process of, you know, not only adjusting to being a new parent, but also being a new parent to a child with Down syndrome. But that also for me, and my research, and having been involved with Alzheimer’s research for about five years, you know, kind of made me start to think about where I was going in my career and what I wanted to really focus in on for my research, and with that, I kind of realized that, you know, the universe has kind of given me a big sign with the birth of my son that you know, for, for me and my purpose, you know, it was really kind of a realization that, you know, for me, I really wanted to then focus in particular, on how Alzheimers disease develops, and those with Down syndrome,
4:16
did you What did you know about Down syndrome before your son was born? So
4:21
I knew a little bit about Down syndrome. You know, in college, and even afterwards, I done volunteer work with the Special Olympics. It’s why I worked as a buddy at the Special Olympics and worked with some some kids who have Down syndrome. And my wife is actually a special special education resource teacher. And so she has, you know, worked with with kids in the school setting who have Down Syndrome and other different types of intellectual disabilities and things like that. And so I had been aware of it and, you know, kind of had just a little kind of basic knowledge of Down syndrome. But when When we got the diagnosis, we found out prenatally at about 20 weeks with our 20 week ultrasound. When we got that diagnosis, it definitely was, you know, a whole new world after that of in terms of understanding Down syndrome. And you know, and having been an Alzheimer’s researcher at that point, I was aware about the connection between Alzheimer’s and Down syndrome, but you just had kind of a more basic level, but really didn’t have a full depth and appreciation for how those with Down syndrome are impacted by the disease.
5:31
How would you say your like your experience with researching Alzheimer’s, and then your wife’s experience with individuals with Down syndrome? How would you say that impacted the, the way you received or felt about the diagnosis?
5:50
Um, I would say that, you know, it, it was still very surprising, you know, we haven’t had, you know, we’ve really had no family history of having anybody in our family that had had a child with Down syndrome. And, you know, while we had a bit of an understanding of Down syndrome, it still was quite a shock, you know, we still kind of went through that period of just trying to make sense of and understand what it was that we would be going through and facing with a child with Down syndrome. And so I think that we were fortunate and that we at least had enough of an understanding and an experience, knowing those with Down syndrome, to know that, you know, there is such a wonderful life that they can live, and that there’s so many wonderful opportunities for them, in today’s society to be included in school, and, you know, different different activities that, you know, we knew that there would be lots of challenges, but that there would also be a wonderful opportunities, you know, for, for our son to live a wonderful fulfilling life. But, you know, it was tough, you know, we ended I think we, we did go through a bit of, you know, a bit of a grieving period, at first, I’m just trying to, to understand that, you know, as first time parents that, that our journey would be different, you know, that the the things that we had kind of been, you know, thinking about and anticipating of what it would be like to become parents, that things were going to be a little bit different. And so we kind of, I say, we did a little bit of grieving because it’s kind of grieving the what we had expected. But you know, then to go through that process of then realizing, you know, the different journey that would be a little bit different, a little more unique than what other parents go through.
7:43
Because you have three kids. Yeah, correct. And I’m curious, how do you feel like, at the beginning of the journey, you felt like you had to grieve what you thought your child was going to be? How do you feel about that now? Seven years into the into it, how do you how do you feel about the thought that you had, there was something that you had to grieve? Yes,
8:06
I mean, looking back in retrospect, I wish I would have had a little bit more of a better understanding now, like, I do have just how wonderful our son would be and how, you know, how much love you would give to us and, and all the joy that He gives us. And, you know, I don’t want to, you know, like, beat myself too, up too much for you know, for back then for, you know, kind of being sad disheartened about having the initial diagnosis. But I also think that part of that comes from, you know, at the time, just some of the different societal views and what’s out there, about Down syndrome, and I still think there’s catching up to do within our society to just get a better understanding of what it’s really like to have Down Syndrome and what it’s like to have a loved one with Down syndrome. And, you know, and I think that for me, I kind of in my head went through this process of, you know, I’ve been thinking about, you know, alright, you know, am I gonna be able to coach my son in baseball, and he knows you’re going to play all these sports? And am I going to be able to be his coach and do all this? And I started to question that and doubt that. And in retrospect, I wish I hadn’t done that as much because you know, my son is he’s playing soccer, he just finished doing a special baseball league with T ball league. And, you know, I’ve been helping, you know, Coach to do some assistant coaching for the soccer team that he’s participating in. And so there’s still all these wonderful experiences and opportunities there for him. And so, you know, I think that part of one of the things that I’m you know, continuing to try to do, both with, you know, advocating for, for Alzheimer’s research and things like that, and a better understanding of that, but Also just more broadly for Johnson Syndrome is just trying to continue to raise awareness with people that I meet about how just how wonderful he is and how wonderful life is for him. So,
10:12
yeah, I don’t want any parent to beat them selves up. I feel like that. That’s one thing that I want to change for parents when they get a diagnosis is those feelings because it’s, we had those feelings. Stephen just had a conversation, you know, a few days ago. And it’s, you know, I think when it comes to dads, it’s the first thing that you think of as will I throw the ball, will I be able to throw the ball, you know, and and that’s something that I do believe is societal, that gets put upon us, because of the narrative that’s told about Down syndrome. And I do believe it’s changing. For people who are coming behind us. I just, I, you know, I wanted to talk to you about it, because you even had information like your wife taught children with Down syndrome. And there’s
11:05
no way you could go through doing Alzheimer’s research without some kind of knowledge about Down syndrome, I think that’s a would be at least you know, you take some part of a class or something where you would talk about that part.
11:17
Yeah. And even like, you have two other children, but when I’m, I’m willing to bet that when those children were born, nobody told you to to grieve what they wouldn’t be because you didn’t know when they were gonna be no. And you’re given but you don’t know what your what is your son’s What are your children’s net? We don’t even know what your kids.
11:37
So my oldest son, Teddy, he’s seven. He actually just turned seven yesterday. Oh, happy birthday, happy birthday. And so he’s my oldest. And then our middle son is Zachary. And he’s five. And then our youngest son, who’s two and a half is calmly and at co n l EY. Probably three boys will be boys. Yeah, they keep us busy.
12:00
I bet Oh, my goodness. You know, I just, I just find it interesting. And I think the more we talk about it, as a community, I think that’s how, you know, we can help each other heal and have a have a different path. Because, you know, there’s no reason there is I don’t believe and I think maybe some, maybe for some people there there is stuff that they need to let go of right at diagnosis. But for me, I feel like it’s jumping the gun and it’s putting us in the wrong boat and on the wrong path. If, from diagnosis or birth, we look at our child, or we’re told and most of the time, it’s because someone tells us to do it, to grieve what they won’t be like, I mean, you wouldn’t do that for anybody else. Like nobody, like there’s no other. I don’t think there’s any other child. Like if a child is born, like, the doctor is not going to, you know, hand this beautiful gift over to you, which took a lot to make. And to be born and say grieve, like there’s, there’s there are times to grieve, and and parents have that experience. And but when you’re when your child is born, and it’s such a gift to you, I think that puts this cloud and I think it puts us in that place of feeling like our child is less, you know,
13:30
yeah. And I think that even, you know, it kind of even started right at the initial ultrasound. You know, when when we were going through the ultrasound and you know, the technician who was doing it was asking lots of questions and you know, asking about us and everything and, but halfway through all of a sudden, she started getting quiet. And we could kind of tell there’s there’s something going on here. And she was kind of going back to certain areas and looking over and over. And we were kind of starting to wonder, okay, is there something going on here and then she left in and came back with the doctor and even the you know, the the doctor who came in, kind of had a bit of a somber tone to tell us, you know, there’s some markers here that we think may be, you know, indicative of Trisomy 21. And even some of those markers, you know, are also markers that could potentially be found, I think in Trisomy 13 or Trisomy 18. But they felt that you know, is potentially Trisomy 21. And so then we went to talk with a genetic counselor and go through all that. And so even initially, like that, there just seemed to be this like, somber tone of just, you know, I’m sorry, you know, and I even had a few people when we told them that we initially had the dire you know, the diagnosis of our child having first will be 21 that we were going to be having and a few of them even said oh, I’m sorry. And it was just like I get and I understand where that comes from because our kids face a lot of medical issues. And so there are certain things that come along with with a diagnosis of Trisomy 21 Where you you face these additional challenges and they face these additional challenges. is, but, you know, just I think, to have that that almost downtrodden type of experience, it just I think it’s just it’s so unfortunate because there just are so many wonderful kiddos with Down syndrome out there and adults that are just, you know, they bring so much joy to this world and I just, I do wish that, you know, more people would have experiences with individuals with Down syndrome in their life and, and be able to just have that richness and fullness of understanding what it’s like to have to be someone with Down syndrome into to have a loved one with Down syndrome. And, you know, and I do get from the, from the medical perspective of it of, you know, the fact that there are these medical challenges and, and you know, and I think that, you know, for the doctor who came in and kind of gave us the diagnosis. You know, at the time, you know, seven years ago, one of the things that came up is whether or not we would continue with the pregnancy. And then when we went back, you know, several weeks later for the next follow up ultrasound. When we came in, you know, she came, she came back in, and she said oh, so I guess you continue decided to continue with the pregnancy almost surprised. And for us that was like, Well, why wouldn’t we? You know, why wouldn’t we continue? You know, we’re gonna love this child no matter what. But, you know, I, I realized, too, that, you know, from her perspective, you know, when I was been looking through research and researching Down syndrome, you know, unfortunately, and there was a study done in the late 90s, in the early 2000s, that, you know, in America, close to two thirds of pregnancies with a diagnosis of try Somebody want Trisomy 21, were terminated and aborted. And so I’m sure for her experiences, you know, having the majority of those diagnoses and a determination in the pregnancy, I get, you know, where that for her is probably a bit more surprising for somebody that decides to continue. And I think that it’s just so unfortunate that that that trend has been there. And you know, I think that hopefully that’s going to change, as we see more inclusion, as we see more people with Down syndrome, being involved with so many aspects of society, you know, being and being actors, and being, you know, and movies and TV shows and being on you know, different ads and commercials and things like that. And but yeah, man, I think it just for us, it was just kind of a little unfortunate that some of what we went through wasn’t even necessarily from us, but it was external forces of people kind of how they kind of addressed and handled, you know, the situation that we were going through.
17:35
I feel like I’d say most of it is societal. And from the outside. And I, you know, a lot of what you were saying is about the reaction from the nurse and the doctor. And people who call you and say I’m so sorry, I think they won. This is what I’ve learned, or what and what I feel after 13 years, is that it’s a huge misunderstanding, they have no idea and they don’t even know what they’re propagating. Like they do not realize that the stereotypes and the beliefs and feelings that they’re propagating come from such an archaic understanding and actually the the obliteration the attempted obliteration of, of individuals with disabilities from society. Like, it’s like they don’t like that’s, that’s the message that they’re passing on. And, and, you know, when a doctor says, Oh, well, there’s all these medical issues. The medical profession had a very aggressive hand in the misperceptions of Down syndrome, because the medical profession refused to treat our children because they didn’t see their lives as equal or to have a value. And, and I feel like it’s changing, like our pediatrician when lamb was born was. I mean, she’s been amazing the entire time. Like for the last 13 years, she was she luckily was one of those doctors who understood who have had experience with individuals with Down Syndrome and had a real open conversations about any of the medical challenges our children are prone to, sometimes, and but also that they’re not exclusive to our children, which is I think, what that’s what the medical profession would have us feel. Yeah, many children without Down Syndrome have the same experiences when they get those diagnosis is the doctors provide lots of medical help and understanding as to how those children will overcome and live healthy, healthy, happy lives, but they They don’t historically do that for our children, you know, they they actively denied our children, heart surgeries,
20:08
you know, it doesn’t get much press as the fact like you think of in our household, we have a son with Down syndrome that has no heart conditions. We have a daughter, a typical daughter, who wears glasses. And, and Liam does not wear glasses, you know. So it,
20:23
and I believe the medical profession is is responsible for that high two thirds percentage, because they’re the ones that come to you, when you come for your next appointment and go oh, oh, you decided, it’s, it’s, you know,
20:37
that shouldn’t be said, I mean,
20:38
I’m so hopeful for the fact that our world is turning inclusive and diverse that there are people going to medical school who have been in inclusive classrooms who understand it’s our child isn’t there as a token, our child is actually they’re because they’re equal. And they have the equal ability, like so, so many children learn at different paces. I, you know, at different rates, and they’re given that, like, they’re given the what is it like, the forest, not the tree, look at the forest, look at the long game, if they’re gonna get it, like we get that conversation all the time with our daughter, she’s gonna get it, just give her you know, be patient, just she’s gonna get it. And when she gets it, she’ll get it all the time with our son, it’s like start shaking their head right about it. Like at like the earliest milestone, it was like, Well, let’s take them off curriculum. It’s like there’s no, you know, there’s no, there’s not a balance there. It’s a it’s a, it’s a game that’s really geared toward the outcome that they desire. But I do believe that that’s changing
21:44
through inclusion, and also through the medical profession, being exposed to children with Down syndrome from as a younger, you know, as classmates, whatever, or having a sibling with Down syndrome, or having a child with Down syndrome. I mean, that’s what really made me want to have or made us want to have you on the program so quickly, because as soon as I heard about you, there must be others out there. But we have all the researchers we’ve met,
22:09
they usually go into it once they have Yeah, especially with Alzheimer’s
22:13
research. It’s it’s a it’s a it’s a it’s a part of Alzheimer’s research that is available. And and I know the outcome of researching Alzheimer’s in children with Down syndrome is looking at the forest, not the trees is the can we help all of society with Alzheimer’s? And this might be a secret key, you know, which is could really benefit. Yeah, great. Well, just the personal connection you have with the research, that you have a son with Down syndrome, uniquely, that you are already studying Alzheimer’s, you know, but to then have that personal connection. And so it’s not just a clinical specimen. Research, it’s a personal research.
23:05
Has your research changed much?
23:09
Yes, well, I will say when my my son was born, I was a graduate student here at Washington University in St. Louis. And so that’s where I’m currently now doing a postdoctoral. I’m a postdoctoral research scholar, now at Wash U. And so when I was doing my graduate work, I was really fortunate to be in a lab that was really, really on the cutting edge of Alzheimer’s research. I was in the lab of Dr. David Holtzman who, at the time, he was the chairman of the Department of Neurology. He’s actually just recently now become the director for the night Alzheimer’s Disease Research Center, here at Wash U. And so in that lab, it was a fairly big lab, and there was a lot of different research interests of the lab focuses on various aspects of Alzheimer’s disease, but a lot of the focus of the research was kind of looking more broadly at the general population, you know, looking at what they refer to as a late onset Alzheimer’s disease, which occurs, you know, 10s of Korean people over the age of 65. But also, you know, looking at those with familial Alzheimer’s disease, where there’s certain genetic mutations that can be passed down through families. And so those individuals tend to get an earlier onset of the disease, sometimes even in their 30s and 40s. And so, you know, the, the focus of a lab was kind of primarily we would use animal models, we would use mice as a model system to try to look at different aspects of Alzheimer’s pathology, looking at things like the amyloid beta plaques, which are these plaques that accumulate these proteins, these proteins that start to clump up inside of the brain outside of cells, but then also looking at the neurofibrillary tangles, which are these aggregations and these clumps of this protein, called Tao. And these proteins accumulate inside of the neurons and they are the the tau protein, that aggregates tends to be what causes the neurons to start to struggle and you know, start to die off. And that’s when you get a lot of that pathology, you start to get the atrophy of the brain tissue. And we can even see that, you know, in the mouse models, and then trying to take that and translate that into potential therapeutics. But, you know, at the time, they’re really the focus of the lab, you know, there wasn’t much of a focus on Down syndrome in particular, but I will say it was really fortunate in that Dr. Holtzman, actually, he did his training in the lab of Dr. Bill, Bob lay. And Dr. Bill Maher bleh, is actually one of the leaders in researching Alzheimer’s disease and Down syndrome. And so Dr. Holtzman had a background in his training, and he was actually a Down Syndrome scholar back when he was doing his training and his research. So he had that background and, and, you know, knew knows very well about how Alzheimer’s affects those with Down syndrome. And so, when my son was born, and I was in his lab, you know, he had a very good understanding of what, you know, we were we were going to be going through and facing. And, you know, as I started to transition towards the later stages of graduate school, I started thinking about, Okay, now, all of this knowledge that I’ve been accruing and accumulating through through my work, how can I take all of this and start to think about ways to then, you know, focus that in on Down syndrome, and when what can we do to take all this knowledge that we’re learning about the general population, and those who either get a familial Alzheimer’s disease or the more sporadic late onset form, and we take all that and then start thinking about that in the context of Trisomy 21. And for individuals that have this extra copy of the 21st chromosome and, and so now, you know, and I was very fortunate that I was able to get a position in the lab of Dr. Andrew, you here at Wash U, who is actually developing these really unique models, systems using samples, skin samples, from individuals where you can take these fibroblasts which come from these these skin samples, and directly turn them into neurons of the brain. And so you can actually take the skin samples from people with different types of diseases, different types of neurodegenerative diseases, and turn them into neurons, and actually study them in a dish and look at how these neurons are potentially impacted by some of these different disease pathology. And so his lab in the past has looked looked at different diseases like Huntington’s disease. And we’re actually now in the lab starting to look at taking skin samples from individuals that have Alzheimer’s disease that are older. And so one of the projects that I have started to now take on is looking at samples that have been obtained from individuals with Down syndrome, to then try to convert these cells into neurons and to be able to study in a dish how some of this Alzheimer disease pathology accumulates. And so that’s where I’ve, I’ve kind of transitioned, you know, now from from doing the more broad type of research into Alzheimer’s disease and, and to now kind of turn that into a focus on on on Down Syndrome and actually using these these samples that actually how Trisomy 21, you know, these these skin samples and converting them into brain cells.
28:29
We were lucky enough to meet Dr. Bill moblie. At the T 21. Conference in Long Beach last year. Very fascinating. Individual talk to, before we get further in the research, just to clarify for myself, maybe others have this question, as I see in research, many times there’s this late onset and early onset Alzheimer’s research, I think of 23 and me in different places where you do the a pull that up for gene variant to check if you have it if you have, you know, copies of that. And a lot of that research is late onset Alzheimer’s disease. You were talking about early and I always think of people with Down syndrome having early onset. Yeah. And is there a big difference between those two researches? And and especially in your research with Down syndrome?
29:20
Yes, that’s interesting. So, you know, as you said, you kind of hear a lot about the more late onset form. And that’s because actually, the majority of cases are delayed onset form, more than 95% of cases. And so, you know, in those individuals, it’s more sporadic. And as you mentioned, the APG, that was actually what the what I focused in on for my for my graduate work, was the A buoy gene. And, you know, that’s been identified as the strongest genetic risk factor for more sporadically onset form. But there’s also been these studies over the last few years where they’ve been able to identify some other genetic risk factors that can influence an individual’s risk for the life concept form. But when it comes to then the early onset form these familial cases, there’s really three main genes that have been identified with mutations that cause the early onset forum. One is the HPP gene, which is the amyloid precursor protein gene. And that’s actually found on the 21st chromosome. And so there, and that is actually the gene that then makes the protein that makes amyloid beta and causes the plaques. But then the other two are genes called presunto, and one and presunto, and two, and these genes are actually part of a complex that cuts the aipp gene, into the amyloid beta peptide. And so these three genes are all involved with the process of producing this amyloid beta, that then makes plaques in the brain. And so it causes them to either make more of this amyloid beta or to make more toxic form of the amyloid beta. And that’s what really causes them to get this earlier onset. And so when you then think about individuals with Down syndrome, who have Trisomy 21, who have this extra copy of the APB gene, they’re making 50% More of the product of that gene. And so they’re actually generating more of this amyloid beta, which then causes them to get this accumulation of this amyloid beta in their brains and to make these plaques. And so all individuals with Down syndrome, by the time they reach their 40s, anyone that’s ever been looked at, they all have this black pathology in their brain by the time they reach the 40s. And so that causes then you know them to be at a much greater risk for developing a more earlier onset. And so when then comparing, you know, some of these, you know, these different groups of individuals, there are some unique things in terms of how those that get the earlier onset. So those that have a familial mutation compared to those that are more sporadic, but then there’s, you know, also with those with Down syndrome, there’s also some unique things with them. But also some kind of some overlaps with, you know, the more general population and things like that. And so, when trying to think about, you know, how we can go about treating each of these different populations in groups, there’s, there’s, there’s been a lot of work, looking at different biomarkers, and trying to be able to look at different stages of how the disease develops over time, and all these different populations. And there’s been a tremendous amount of work, looking at those that have both the late onset form of the disease, but also even the early onset familial form as well. And so now, we’re really fortunate that over the last few years now, there’s actually been this consortium called the Alzheimer’s biomarker Consortium for Down syndrome or the ABC ds. And so that started back in 2020. And it’s this consortium across the country at different sites, including here at WashU. And then also in the UK with the University of Cambridge. And it’s a study where they’re enrolling, I believe it’s 550 participants with Down syndrome, to start looking at these different biomarkers, and how they develop over time. And it involves doing imaging of the brain, using these different imaging agents, where we can actually administer these agents and put someone in a PET scanner. And we can actually these agents go in and they bind specifically either to the amyloid beta plaques, or there’s other agents that can bind to the tau tangles. And we can actually see not only how much of the plaques or tangles are present, but where they’re present. And we can start to get an understanding when someone’s still alive. Whether or not they are developing these accumulations of these proteins, that may give us an idea of where they are and the course of the disease. And so now this is being done for those with Down syndrome through this consortium. And we’re using CSF samples and blood samples, doing cognitive assessments, so that we can get a better understanding of the trajectory of how this disease develops, and those who have Down Syndrome over time, with the hopes that if we can identify where someone is in the course of the disease, that we can start to use different types of therapeutics that can intervene, as you know, and hit specific targets based on that individual’s course of where they are. And so it’s a really it’s a it’s a wonderful time right now, for this research, and not only for Alzheimer’s research more broadly, but in particular for those with Down syndrome. And I think a lot of what we’re we’re learning about the general population and how Alzheimer’s develops. We’re being able to then kind of translate that over into Down syndrome. But I think, you know, as I think you were kind of alluding to, I think, really, there is going to be so much that we are going to understand from those with Down syndrome. We can then apply to the general population. And I really do think that that you know, those with Down syndrome really hold the key. And I think they’re going to provide us with some wonderful, unique information that’s going to provide insights into how we treat Alzheimer’s disease more broadly. And so yeah, it’s it’s really just kind of an exciting time to be in the space of where we are and and understanding the disease and in so many different levels.
35:25
Science is amazing. It’s when you’re talking about taking the skin samples and then turning them into neurons.
35:32
The neurons. Yeah, the neurons in the brain. Yeah, those are the those are the main cells that kind of do all the firing in the brain. Yeah.
35:37
But these plaques that develop on the brain, that it’s not just specific to individuals with Down syndrome, it’s just said that people with Down Syndrome have that extra chromosome. And the reason why it’s higher is because that means they have an extra copy of that correct? I just Yeah, cuz that’s something that we learned from Dr. Scott COE last year that it’s that it’s because of the fact that there’s just an extra copy it lays right on the 21st. Yeah, and there was something else that we spoke about. And I don’t know if this is part of your research or something that, you know, just as being a researcher, that’s also a parent of an individual Down syndrome. But Dr. Scott Co was talking about different things as far as diet or different things that we intake that add to the building of that plaque that we can eliminate, or moderate in the diet. Can you speak on that?
36:30
Yeah, no, and actually, I listened to that podcast with Dr. Scott Co. And I remember the acronym we use was smart, which you know, stood for, you know, different things that you can do to look at different lifestyle factors. And that’s actually something that’s been really kind of an interest for me, and trying to think about different ways that, you know, in particular, for those with Down syndrome, you know, what are ways that you can start to introduce, you know, just even little minor things that can improve, you know, different lifestyle choices on a daily basis. And for me, I actually, while I was doing my graduate work, after my PhD, I had an opportunity to do some science outreach. And at the St. Louis Science Center, here, we, through the neuroscience program, we do something called the Amazing Brain carnival, which is something where we go and we do demonstrations, and we set up different tables at the Science Center, and, you know, kids of all ages that come to the Science Center, you know, we get an opportunity to teach them a little bit about the brain. And through this program, they actually encourage students to come up with their own demonstration. And so I started to think about, like, Okay, what’s something that I can do to try to teach, you know, someone as young as five or six, all the way up to to teenagers, and even adults, to just introduce a little bit of some of these concepts of Alzheimer’s and things that we can do to, you know, on our daily basis, just little lifestyle choices. And so I came up with this thing called the The Amazing Brain game are, you know, that, the whole idea was to try to get kids thinking about, you know, if I am going to eat a meal, if I choose a salad, you know, I can, you know, keep the plaques out of my brain and protect my brain versus, you know, eating something like a double cheeseburger, which, you know, could potentially cause you know, these things to build up. And so that has been something that I’ve been very interested in, throughout the years. And, and, you know, especially for those with Down syndrome, just given, you know, some of the differences in metabolism, some of the issues around hypotonia, and things like that, you know, I think it’s just so important from an early age, you know, especially with, with kids that are developing to start trying to just do those, you know, little things that you can introduce early on, that hopefully, will really set the stage, you know, throughout their life, to live an active lifestyle to, you know, eat more healthy manner. And really, they just get their brains engaged, you know, and that’s one of the things that’s been really interesting and, and studying the brain is that, you know, the, in with the ability to just keep the brain active, it helps in building this, what’s kind of referred to as a cognitive reserve. And so there’s been really interesting studies showing that people that tend to be more engaged socially, that tend to engage their brains by learning new things, if they’re more active and going to museums and outings and things like that, that, that really it stimulates the brain and it causes the neurons to make more connections. And it really builds this this reserve of having this more diversified neuronal network. And so as you then begin to age, you know, if you’ve really done a good job throughout your life of really staying engaged and keeping your brain active, if you do start to face some of these pathologies, if you do start to get Some amyloid beta that’s accumulating and clumping up and, and starting to cause a little bit of some of these issues, you’ve kind of really built this nice, healthy, robust network that can start to deal with that and, and help me to clear some of these proteins out and deal with some of those, those issues. So that is definitely something that, you know, I know, they’re also through the the Alzheimer’s biomarker Consortium for Down syndrome, looking at, you know, some of these, you know, different lifestyle factors, but also, comorbidities and, you know, if individuals have, you know, potentially diabetes or any other you know, issues, you know, cardiovascular issues, things like that, to try to look at some of these different influences that are impacting the disease as well. It’s something for me that, personally, my own research, you know, it’s not something that I researched personally, but it’s definitely something for me, that I’m very, very interested in and always want to raise more awareness about it and learn more about as well.
40:57
Is there a place in the research that discusses because, you know, we are still, even though idea was put into place many, many years ago we are, we are still worse that we finally found a school that actually educates our son, but for for, from preschool to fourth grade, fifth grade, we had to fight enthusiastically for an education because the school system believed that our child just needed to be there to be socialized, and didn’t provide an education didn’t provide that cognitive stimulation, it was easier to just, you know, say we’ll just put them in the classroom with, you know, not receiving the education, basically not working to develop the brain not giving the accommodations to access the curriculum. Is there any place in the research that would that, that demonstrates the difference between an individual who is not receiving that cognitive input, ie an education versus the individual who has actually received an education, you know, learn? And, you know, we have a lot of individuals now who are actually attending college, but not just in a lifestyles? What does that call? What does that kind of classwork teaches? So Oh, living independent living, that that used to be what our children were offered, if it was going to be post high school education. Now individuals with Down syndrome are going to college and getting degrees. And, you know, I’m curious as to how that affects that individual’s risk, versus the individual who’s who has been denied cognitive input?
42:55
Yeah, no, yeah, I know, more broadly, you know, there’s been a lot of work looking at education, and connections with Alzheimer’s disease. And so there’s been several studies that have shown that there’s, you know, this direct relation between the amount of education, you know, those that, you know, get high school degrees, college degrees, postgraduate degrees, and their rate of developing Alzheimer’s disease. And so for those that do, you know, get more years of education that go on to to college and to get postgraduate degrees, they have a lower rate of Alzheimer’s disease, and then there can be different factors that may play into that, that may play into that, you know, as far as socioeconomic status and, and different, you know, lifestyle factors that can play into one’s upbringing, as far as you know, access to healthy food, and how that then, you know, correlates the ability to go out and get education. But there’s been, I think, very clearly this, this demonstration that the more education you’re able to receive, the more that you are able to, to not only engage your brain, but to really to drive your brain to learn new things, and to really make those new connections and to really, you know, build that throughout your life, you know, through your education, that that that decreases your risk, you know, for developing Alzheimer’s disease. And, you know, I think that for those with Down syndrome, I’m almost certain that that’s also going to be, you know, a similar correlation. And I think that, you know, we’re we’re kind of in this new era for those with Down syndrome because as you mentioned, there, you know, there are these new programs for those with Down syndrome as they graduate from high school, and they go on to college or to do these training programs that give them opportunities to get jobs that are meaningful, that they really can you know, that they can have to give them a purpose in life and to go on through their adulthood, you know, to contribute to society. and also to make a living for themselves. And so, I think that, you know, there’s still a lot of work and research to be done in the downstream community to really look at that more in depth. But for, for the general population, that’s been work that’s been that’s been done and really shown that there is definitely this correlation. And so I think that in and of itself, just really lends more credence to the fact that we really need to make sure that we’re doing everything to to have more inclusive environments for our kids. And I will say, we’ve been incredibly fortunate that for our son that, you know, for the most part, through the schooling system, when we’ve gone into IEPs, we’ve really had wonderful teachers, and advocates that have really tried to push for as much inclusion as possible. And right now our son, about 70% of his minutes are in the gen ed setting, where he’s amongst his peers, learning right side by side with them, and then, you know, he has that tie with the one on one time to really kind of focus in on certain learning goals and things like that. But I think that, you know, that’s, that should be the norm, like every child with Down syndrome should be, you know, trying to be pushed to reach their full potential, and not just simply like, oh, well, you know, they’re, they can’t do that, well, we’ll just kind of have them over there. And, you know, they can kind of just, you know, sit on the sidelines, if you will, or whatever, but really just just like you would for any other child, to push them, especially now that we’re learning so much about throughout the course of one’s life, how this then sets them up to impact as they transition into adulthood. And then, you know, as they begin to age in adulthood, and how that’s influencing that cognitive reserve, that that overall cognitive function as they begin to age, to really just try to, from an early age, set them up for success throughout their life, to really just to be able to fight off Alzheimer’s disease, and to not have to deal with, you know, the dementia that can develop.
47:00
I feel like the entire journey is about equanimity, from the diagnosis into it, like when you’re talking about when we’re talking about higher education, and we’re having the conversation of like, Oh, now our kids are able to go and take these classes where maybe they can live and have a meaningful life, it’s like that, that isn’t any conversation that we’re allowed to have about anyone else. Like, we’re not allowed to have that conversation. Because if it’s about anyone else, there’s a big light shined on how inappropriate and wrong it is. And I feel like it’s just, you know, from the diagnosis, there’s the value of the life isn’t there because of these misperceptions that have nothing to do nothing to do with the chromosome. Everything that individuals with Down Syndrome have experienced. And it comes from the Industrial Revolution, and trying to obliterate the the individuals with cognitive disabilities, out of our society because of what they were trying to create, which we can’t even go into that conversation. That’s a total that’s, you know, and and then the institutions they created by institutionalizing our children, and pulling them from society, taking them from their parents in, in this quest to uphold the family unit, which is just so disgusting, if and if that’s the Kotel, you’re still riding on, you need to ask yourself, why as a society, that that’s still something that you’re upholding. And I think that most of society looks at an individual who lived in an institution who was given no input. And they’ve taken that and said, This is Down syndrome, and doing that they’ve created it, and then they’ve created all of these other challenges and those in the life of an individual with Down syndrome that aren’t necessarily what if you took an individual with Down Syndrome and gave him the same equality, that that life, the same equality, the same opportunities, the same education, and that means parents, when they’re trying to tell you your child isn’t going to read? That’s garbage, they might read a little bit later, but they should have the same equality of we’re just going to wait till it clicks, whatever level it clicks, it clicks on whatever, wherever it is, let that child tell you don’t let some outsider who, who most of the time has no real understanding, right. The rest of the rest of the time, I feel has an obscured understanding. And then There’s the individuals who have an understanding who are, who have know the experience, that those should be the ones like, I’m happy that you have advocates in your IEP, it’s what I have wished for and believed for. I think that is, that’s evolution. That’s how we evolve. You know, we see what we did wrong. And then and then we change it. And I just I feel like a lot of these challenges come from the fact that our children are have have historically not been looked at equally, equally.
50:34
yet. I mean, I will say that I’m very fortunate that one of the best advocates is actually my wife, you know, she’s had the experience, she’s been in the system. You know, she was a special education teacher for 13 years. And she’s actually now she’s doing her own work. Now, as a tutor, actually, for children with dyslexia. She’s actually trained in that, you know, and, you know, as you mentioned, children with dyslexia used to, you know, there used to be things like, oh, they just, they don’t know how to learn. And they’re, they’re kind of, you know, just, they don’t get it, they, you know, but then we started realizing, Oh, wait, there’s actually a processing in the brain that is slightly different here. And they just learned in a different way. And so now you’re seeing you know, that on a regular basis, kids are being screened for dyslexia, because there’s so much more in aware of aware of an awareness for it. And so, you know, for us, when it comes to the IPS, my wife, it’s so funny, because there’ll be times when we go into an IEP, and she’s like, okay, these are the things we need to focus on. And if they say this, we need to be able to make sure we’re prepared to, and sure enough, there’ll be certain keywords and things that she’ll be, she’ll pick up on and be like, Oh, let me come back with this, to really kind of just say, hey, you know, according to the free and fair appropriate education act, you know, this is something that needs to be addressed. And it’s not just, you know, factoring in this, but all in. And so she’s been absolutely wonderful when it comes to, you know, making sure that we’re getting, you know, the most that we can from our IEP meetings, but, you know, we have, like I said, We’ve been really fortunate to be, you know, in a wonderful education system that has, you know, had teachers that really want to see the best for us. And, you know, when you win, imagine in terms of just kind of some of the outdated approaches, you know, when you think back that, you know, back into the 40s and 50s, you know, from from the medical perspective of how we addressed those with Down syndrome. And as you’re mentioning institutionalisation, the median life expectancy, for those with Down syndrome back in the 40s, and 50s, was one year old. And that came from the fact that half of children born with Down syndrome, have major congenital heart defects that if they’re not addressed, usually within the pressure of life will pass away. And so the average life expectancy and the median life expectancy over the last, you know, 6070 years has just tremendously skyrocketed. You know, back in the 1770s, the average life expectancy was in the 20s. And now we’re getting to where the average life expectancy is reaching, you know, in the 60s. And there’s, you know, it’s hard to find many populations where you’ve seen that much of an increase. And so with that, over these last few decades, that’s been an amazing and wonderful thing to see, you know, the average life expectancy increase like that. But because of that, we’re now starting to realize her the issues around aging, that the our loved ones with Down syndrome are facing, and that’s where, you know, when it comes to thinking about, you know, from the different medical perspectives of treating all the different things that they may face early on in life, it’s also important that as we start to realize that we have this increasing aging population of those with Down syndrome that we also need to focus in on how to age in a healthy manner and to address things like Alzheimer’s disease. And so even you know, even when it comes to something like Alzheimer’s disease, you know, we’re actually incredibly fortunate that just a week ago, the FDA for the first time approved, one of the first treatments for Alzheimer’s disease that has been shown to directly target and modify the underlying pathology. So this drug called Locanda Mab that is going to its marketing as the Kennedy it was shown to actually slow the rate of decline. And this is the first time ever the first time for Alzheimer’s treatments that we’ve actually had now have a treatment that can be administered. And it’s it’s unique. It’s more to the individuals that are in the earlier stages of the disease to try to delay the progression. But those trials there was another drug educated Mab that received an accelerated approval with some controversy, and there was another drug, Donato Mab that has recently shown promising results as well. But all of those clinical trials, they excluded individuals with Down syndrome. And that to me is just so disheartening and you know, for a population that we know is so highly susceptible to this disease. It’s just So unfortunate and and there are the reasons as far as having that extra copy of the 21st chromosome, there are some certain, you know, complications that can arise from the treatments, but to not, you know, side by side be also looking at how we can include those with Down syndrome through these trials. Now, I will say that, now that we’re seeing some of these results from these trials, there are now efforts to, you know, there is an actual, through the NIH, an Alzheimer’s trial unit, for those with Down syndrome, where they’re starting to now begin trials, and to try some of these different therapeutics that are showing promise and those without syndrome, but you know, this, this drug just got approved, and right now, it can’t be given to those without syndrome, because they were excluded and not included in these trials. And to me, I think that, that this is just a lesson in, you know, not only having inclusion throughout different aspects of society when it comes to education, but from the medical research side of things, there’s, I really think I feel there’s no reason why we aren’t doing more to make sure and make the concerted effort to make sure that this population is included, because we know how much this disease impacts them. And so there are wonderful efforts being undertaken, but I think that there’s still work to be done in that area.
56:14
Why do you think we’re so polite? Like, I mean, I, because I think that if, if I’m gonna say it again, if it was any other marginalized group, there would be signs and loud voices and people in Congress, and you know, this study can’t be done because it’s, it’s discriminatory and non inclusive. I mean, you get, like, why are we so polite, I just, I feel like I mean, part of the I really tried to stay peaceful. And I and I feel like part of the biggest challenge that I had, and fighting for my son’s education, is I tried so damn hard to be so polite, all of the time, I brought muffins and gave gift cards and did all of these things, to try to be polite to try to, you know, make it okay, and then make it nice. And in fact, I just, I think, I think we need to call it what it is. And it’s discrimination. It’s, it’s wrong. And, and it needs, it needs to be called at at every avenue that we see it. And if it makes people uncomfortable, they can be uncomfortable. Because I’m uncomfortable that my son’s not included, I’m uncomfortable that I had to hire a lawyer every year to get an education. It makes me uncomfortable that I have to watch my daughter, like, and how it affects her that hers brother isn’t seen as equal. You know, I just I, I, I wish that we weren’t so polite. Sometimes, I really wish that we we were, you know, weren’t afraid to hurt people’s feelings, because those are not the feelings, the feelings that are discriminatory and segregated, segregated, segregated, and are not inclusive, and those feelings, they don’t care. And, and I just, that’s we have to be their voice. Right? We have to be their voice and their voice has to be loud. And, you know, you look at when you say in the 1950s. And that and that statistic that children didn’t live to be past one year old. Doctors would say, Well, I’m going to take the you don’t want to go through this pain because your child is going to die. Never told the mom, the child’s going to die because I am going to actually violate my oath. They take an oath, doctors take an oath that they will save a life if they can. So do we go back and talk to each of those doctors that denied surgeries and tell them that they broke their oath and that they should be have their license to practice medicine revoked? Is that what we should do? Because I think that sounds about right, you’ve let somebody die. You’ve let a child die. How do you sleep? But instead, we just do our best. And I think they know that. I think that they know that we have other things on our plate. I’m sorry. You just really impassioned to me, Tom, because you know what the first I’m going to tell you this your research. When your research makes discoveries about Down syndrome. I’m gonna guarantee you that you’re not going to be able to say this is only for people with Down syndrome. No, yeah, no, you know, they’re gonna be like, Oh, thank you, Tom. Yeah, no, no, and they’re gonna take it.
59:33
Yeah. Yeah, no, and I and I, you know, I approach my research with that in the back of my head of not only how can this help the downstream community, but how can this help everyone you know, be ending because I initially started kind of focusing more broadly and I will say that you know, I before I started graduate school here at Wash U. I worked as a research assistant in the Holtzman lab for three years and then you know, between being in graduate school levels like I’ve been here at Wash U which, you know, wash it was a wonderful Research Institute institution, you know, it’s a wonderful university that has really been on the forefront of the cutting edge of Alzheimer’s research. But I will say before my son was born, when I was here for about five years, I could probably count on my hand, the number of presentations and talks that I saw come through and into my email inbox, you know, that we’re going to be taking place, I could probably count on my hand, the number that had been focused on Down syndrome at all, let alone with a focus on Alzheimer’s disease. And, you know, once we got the diagnosis of of the fact that we were going to have a child with Down syndrome, I started thinking about, Okay, what’s being done here, what’s being done, you know, to focus in on how Alzheimer’s is impacting those with Down syndrome. And, and I recognize that there is such an opportunity here, that there’s no reason why this, you know, this type of research couldn’t be being pushed, you know, not only here at Wash U, but, you know, to continue to push it more across the country and across the world, you know, and, and when I would start going to talks, you know, and people would be talking about different aspects of Alzheimer’s, I would start raising my hand and I would say, Well, you know, what about those with Down syndrome? How might this impact them in? And I could tell that there would be times where I’d ask these questions, and I could see people kind of, you know, start looking around and kind of going ha, oh, yeah, I hadn’t thought about that. And, you know, I think that, from the research side of things that, you know, especially when it comes to disease, like Alzheimer’s disease, I think that most, you know, almost everyone that gets involved in this work has some type of personal motivation for it, you know, they have, you know, a loved one who maybe went through this disease, you know, and, you know, they come from a place of really wanting to make a difference and doing this work. But I think that sometimes, it’s just unfortunate that those with Down syndrome are kind of not always at the forefront. And so that’s one thing that I’ve been really trying to continue to do is whenever I kind of see some opportunity, where somebody may be giving a talk about about Alzheimer’s disease, if there’s something that I think may be influential in Down syndrome, or there may be some connection there, I tried to either raise my hand and ask that question, or I go up, and I talked to them afterwards, just to continue to raise that awareness and to just try to get people thinking about, you know, our loved ones with Down syndrome, and how we can really take all this wonderful, amazing knowledge that we’re learning about the brain, and about Alzheimer’s and how we can then apply that and get more people thinking about inclusion and really getting you know, because if we’re, if we’re going to get to a world without Alzheimer’s disease, the only way we get there is if it includes everybody, you know, we can’t sit there and all of a sudden have these treatments and go, Hey, you know, we’re achieving a world without Alzheimer’s disease, and then have this little asterisk that says, oh, sorry, except for those with Down syndrome, we’re not there yet. And we have to make sure that they come along on this journey, and that you know, that they’re right there with the with the rest of us as we start to, you know, as we start to face, you know, the this disease, and we start to try to really address and have these different therapeutics that can really make a difference. And for all of us really,
1:03:02
well, we need you there. So keep pushing, you know, we need you in the conferences and amongst your colleagues raising their hand and talking to them. Are these treatments specific to the are they geared toward the aipp? is So I mean, if so, that seems like the people with Down syndrome are perfect candidates.
1:03:25
Yeah, no, and that’s actually so the three that I mentioned, that have been kind of on the leading edge, you know, educated Mab, Locanda Mab and anonim Mab, that Mab at the end and maybe since for monoclonal monoclonal antibody, and what they are, are, they’re these antibodies that are specifically targeted at the amyloid beta. And so these antibodies go in and they bind to and they, they clear out these plaques, and they help prevent more plaques from developing. And this is exactly what happens in our loved ones with Down syndrome. And a lot of the therapeutics have been focused on this amyloid beta. Because, you know, there’s been this prevailing theory called the amyloid cascade, which throughout the decades, you know, we’ve kind of been able to identify that this amyloid beta that accumulates is really kind of this initiating cascade where you get these plaques, that then causes a lot of distress on the cells, then you start to get the tau tangles that form and then you start to get the cell death. So one of the great things that we’ve been able to learn through all this biomarker work is that we can start to identify people that are getting these plaques before they’re even showing cognitive symptoms and starting to show any signs of dementia. And so by being able to identify these people, these types of treatments can be applied to help target that that amyloid beta early on to that prevent and delayed the disease and that’s something that for those with Down syndrome is exactly what what they face you know, like I said, there’s We’re all individuals, by the time they reach the 40s, as they get into adulthood, they start to get this accumulation of this amyloid beta and this formation of plaques. And so these types of treatments, I think, really hold a lot of promise and the fact that we are seeing the outcomes from these clinical trials showing promise, it’s a really exciting time, you know, and I’ve heard so many Alzheimer’s research researchers say, who have been doing this for decades, hoping and and just pray that we can help get some of these treatments to really show some some positive outcomes. And there’s been so many failed trials. And so to be at this point, where we just you know, within the hour a week ago, just got this fine, you know, this full approval of the this FDA approved therapeutic to know that it is a treatment that has so much tremendous implication for those with Down syndrome is very exciting. But now it’s just a matter of just just really getting getting it down and making sure that that this is, you know, these trials are being done for those with Down syndrome.
1:05:57
Now, your previous research in a po e, maybe a po e for variant, did you kind of refocus your, your specialty, because of your son. I mean, I don’t know and you know this, but just for the layperson, when you when you do a gene test to see if you have a po e for variant, if you have that copy, you have like a three times amount more chance of getting Alzheimer’s or late onset Alzheimer’s, if you get if you have a double copy of that it can be 10 times yeah. Is that are those genes and another’s genetics? So that might be why but like path genetically passed down? Or those AP folk like specifically for variant? Is that seen in people with Down syndrome?
1:06:49
Yes, that’s actually that’s a really that’s a great question. It’s actually a question that I had, you know, early on. And, you know, when I started to kind of look at, okay, what is the focus on my research for graduate school been? And how might it apply? You know, for those with Down syndrome, when I was looking through the literature, it was actually rather interesting, because there were some, some reviews and some studies that did like a meta analysis, trying to pull data from multiple studies, to look at that risk in Down syndrome. And, as you mentioned, you know, for those that have one copy, it’s three fold increase for those two copies, as attended, 12 will increase but for Down syndrome, it’s, it’s rather interesting, because the the increased risk, if you have a boy four is actually a little bit more minimal. It’s only about, you know, the odds ratios are like maybe a 1.8 to like a 2.2. So roughly about a two fold increase if you have one or two copies. So it’s not having as strong of an effect. But that in and of itself is rather interesting, you know, why is that? You know, and I think it’s interesting, also that those with familial Alzheimer’s disease, again, early onset, they also have a less of an influence of, of this APV, genetic risk factor. And so I think that, you know, that can kind of start to give us insight into, okay, well, if you’re getting in early onset form, and you’re really getting this accelerated plaque formation, what is the role of a PE in that context, versus the role of AP and a more late onset, sporadic form, to help inform us of what this gene is doing in both instances, to give us a better understanding of it, and we’re starting to understand more about how a buoy from the inflammatory standpoint, you know, there are immune, there’s immune cells in the brain that as this pathology develops, we see these immune cells called microglia, all of a sudden, they turn on the production of a bo E. And we’re starting to learn more about what that gene is doing in the case of this neuro inflammation that’s occurring during this disease process. And so we are, you know, we’re, we’re learning more about how this gene is influencing these different populations, and in particular, for those with Down syndrome, you know, with these different studies that are being done, we are looking to see, you know, how many of these individuals are a buoy for carriers? How is that influencing not only the time at which they may develop the disease? Does it cause them potentially to get it at a younger age? But also, how does that affect the rate of the decline? Is this causing them to have a more accelerated progression of the disease, and it appears that you may not have as much of an influence in Down syndrome, but I think that that in and of itself is really interesting and telling about what you know what the role of this gene is. And, again, that’s a good example of how better understanding what’s happening in Down syndrome, may, you know, provide us an opportunity to to then apply that and learn more about what the role is in the general population.
1:09:51
Yeah, that shouldn’t be understated that people with Down syndrome shouldn’t be excluded out of AP research either just because they’re not affected as much like we need to have so that together, you know, we should have included it. And, you know, there’s no reason not to include,
1:10:04
but honestly, like, as a parent of an individual Down syndrome, having that having that information, that’s another bit of information that dismantles the, the medical opinion that an individual with Down syndrome, you know, has more challenges medically, like is more exposed to, to ever to everything. I feel like in that case, having the extra chromosome is a benefit. Yeah,
1:10:34
it’s probably benefit from the gene. Yeah, right, or possibly,
1:10:38
right? One, there’s actually, it’s interesting, you know, for the fact that all adults, by the time they reach the 40s, you know, all adults with Down Syndrome have this pathology, you’re not all adults, as they get into their 50s 60s 70s. Now all of them are getting dementia. And so you have individuals in their 60s that are not showing overt signs of dementia, despite the fact that their brains have had some of this pathology accruing for decades. And so what is it? What is it that’s unique about these individuals, and through these, you know, through this, this larger consortium, this, this ABC, ds, this also means biomarker Consortium for Down syndrome, you know, they are looking at, are there certain, you know, different mutations and, you know, slight genetic changes and other genes that are providing this neuro protection that are allowing for some of these individuals to evade this dementia. And that, for me is so exciting. That’s where I think there is so much potential to start to understand, you know, why it is that some of these adults have this this neuro protection, and we can, we can take that and learn from that and understand from that, and that’s where I just think that’s, it’s an exciting time for for that work that’s being done in that area.
1:11:51
And I know, this isn’t your research. But I don’t know if you know anything about this statistic that cancers are not prevalent in individuals with Down syndrome, pediatric leukemia is one thing. But as adults that gets older, that that the risk of cancer is not very prevalent in the Down Syndrome Community.
1:12:13
Yeah, so yeah, soft tissue cancers are very rare. And that’s something that I think, again, is just so unique, where you can have this opportunity to understand, you know, what’s happening to allow for that cancer to not be present. And whether that’s, you know, for those with Down syndrome, there are differences. And, you know, in terms of the immune system, there are certain key genes that are present on the 21st chromosome, these interferon genes that cause the immune system to kind of be in this like, kind of, like, hyper vigilant state, you know, because there’s more activation, and is that potentially something that, you know, the immune system is more heightened, so it can get in there and clear those cancer cells faster. And if they’re identified, and I think that there’s, you know, so many opportunities like that, you mentioned, you know, leukemia, you know, why is it that, you know, you have something like a blood cancer like leukemia, that they’re more at risk for, but not, you know, something like a soft tissue cancer, but that also, you know, I think it’s also really unique, when you look at a lot of individual individuals with Down syndrome, that, you know, they tend to be slightly overweight, you know, they have differences in metabolism. And if you actually look at, like their blood lipid profiles, and you look at their risk for developing things like atherosclerosis, they actually very rarely get atherosclerosis. So what is that? So atherosclerosis is, is where you get accumulation of plaques in the arteries, and it leads to things like heart attacks. And so why is it that they, you know, are less at risk for things like that, and so that’s where I think, you know, when you look at things like Alzheimer’s, and all these different conditions, yeah, there’s just, there’s just so much there to gain from from this research. And that’s why I’m really hopeful that, you know, this research, you know, into Alzheimer’s and these different conditions, and those with Down syndrome will continue to develop. And the NIH, actually, a few years ago, started this initiative called the include initiative. And it’s, you know, looking at, it’s the investigate investigation of CO occurring conditions across the lifespan, and those with Down syndrome. And the whole idea is to start looking at these different co occurring conditions. And to look at those with Down syndrome to see, you know, why is it that certain things, they’re more at risk for or less at risk for, to then, you know, apply that more broadly to the general population? And then I think, you know, there’s just so much wonderful opportunity to to, you know, to learn and to hopefully in the future is to continue this research to to make a difference.
1:14:43
Having you at the foundation of the research gives me hope that there’s also an equanimity that’s, that’s there that can that can only grow and spread.
1:14:54
And you’re not only professionally involved, obviously, personally involved in this research as well. You What is your nonbiased? If you can be prediction for the future in this research? What do you see a kind of a timeline? And where you are right now in the research?
1:15:12
Well, I will say, you know, in the last five to six years ever since, you know, I’ve had my son, I’ve been really hopeful, based on the trends that I’ve been seeing. You know, and I think, you know, it kind of goes back to I don’t know, if you’re familiar with Frank Stevens and his testimony before Congress, that is actually what led to the include the include initiative. And before that, you know, in the early 2000s, the NIH funding for Down syndrome was around 20 to $30 million of the annual budget. Since then, in the last three to five years, it’s gone up to I think it’s around 120 million. So just within the last five years or so, there’s been more than a tripling, in the NIH budget for funding for Down syndrome research. And that, to me, is just so incredibly hopeful that, you know, on a national level, we’re starting to recognize the importance of this research. And along with that, we’ve also seen this amazing increase in the funding for Alzheimer’s research. So you know, we’re seeing, you know, a hand in hand, both the increase in the funding for Alzheimer’s research, as well as the increase in the funding for Down syndrome research. And I think that, you know, more and more, you know, scientific researchers are recognizing that we need to make the investments now, because like I said, you know, we’re getting this increasing in the aging population of those with Down syndrome, you know, we’re people Down syndrome are living more fuller lives, but there’s still a lot of things to address. And that’s where I think that by investing, now, we’re not only investing in the short term, we’re making a lot of advancement, but we’re really investing in the future. And by continuing to fund this research now, and to continue to increase that funding, it’s going to pay dividends, 510 1520 years from now, you know, as we continue to make the advancements, because, you know, it takes a long time for the basic science, research discoveries, to then be translated into the clinic, and to go through clinical trials, you know, these drugs that have been approved, they’ve been going through clinical trials for 1015 20 years. And we’re now just starting to reap the benefit of those. And so I’m really hopeful and excited to see this trend that is taking place, you know, on a national level to invest, and to put the time and the money and the effort into this research. And I’m really just really hopeful that you know, this is going to continue on so many levels to reap rewards into the future.
1:17:44
You didn’t, you didn’t get to expound upon the research that your son was able to participate in. Oh, yes.
1:17:51
Yeah. So yeah. And so that’s actually a very good example. So at the time, when we had our diagnosis, I actually went to a talk that was talking about this. These was partly the ibis, which stands for the infant brain imaging study that was focused on kids with autism, but it was expanding into other areas. And they were actually at that time trying to get approval for a pilot study, to do this neuro imaging and infants with Down syndrome. And I went and talked to the researcher, Dr. Kelly Baran. And she said, you know, yeah, we’re hopeful, we’ve got good good review scores. We’re hopeful that, you know, we can get this approval. And, you know, I reached out to her and right around the time that our son was born a few weeks after I reached out to them to say, you know, hey, you know, have you gotten any updates, and they got approval to do the initial pilot study about three weeks before our son turned three months old, and a three month old time point was what they were hoping to shoot for. And so a few weeks later, we had we had my son in the scanner, he was one of the first participant participants in this pilot study, you know, we went through so he was going in and getting MRI images done, and he was in the scanner, he’ll be in the scanner for about an hour and a half. But in order to get a three month old into an MRI scanner, if you’ve ever had an MRI or heard one of these things, these machines are super loud, so we actually had to train him by at night, playing MRI sounds these out and silence to get him acclimated to it. And then when we whenever he would actually, we would actually put him to sleep. And we would put earplugs in and he would go into the scanner, and he would sleep through this hour and a half. And he did at three months of age, six months of age and 12 months of age we went and from that pilot study, there was a total of 10 infants that they looked at. And then after that initial pilot study, the NIH then funded for over $11 million. An additional follow up study that is now on across the UK for different sites. And so I actually just saw that they are still actively recruiting and doing this study. And so for my son to be right on the forefront of that, and to be a part of that, and then see how, you know, seven years later, now that, you know, this study is still ongoing, and it’s been expanded, it’s been this multimillion dollar effort, it was just incredibly wonderful to, to know that, you know, my son’s brain was able to, to be to be used in a way that has now providing us information about neuro development and how these different brain areas are developing into now out of that study, be built, built up into To be continued in the way that it is. It’s it was really wonderful.
1:20:44
What a family I mean, you between your research, my goodness, and your wife is like a ringer in the IEP. And then your son is like raised, basically raised $11 million for research. I mean, I know there are other people in the study, but we’ll give him he’s the one who did it. I think. Yeah, fantastic.
1:21:02
I think your wife is a superhero. I would love to have a conversation with her because I would love for her to understand like to me, you were saying calling her ringer to me. I feel like it’s one of those things where she knows, like, Oh, yes, she knows. Yeah,
1:21:18
it’s like bringing the car salesman into Yes, car salesman pitch, you know,
1:21:22
right. Like, she knows what you’re gonna say she and she knows the truth behind what the law is. And because it is, as it’s the most frustrating thing it is, with education is it’s the right word. You know, it’s having the difference between the right word and the almost right word, which is who was I’m gonna have to look up and say, That’s a famous close. Yeah, what does it have? The difference between lightning and a lightning bug?
1:21:50
Oh, and just Yeah, knowing the terminology of certain things, how things are phrased when it comes to, to trying to, you know, have certain minutes and things like that. And also, you know, she actually, so she’s now working as a tutor, she started her own tutoring company, but part of that is actually doing advocacy. And so she’s now starting to, to sit in on IPs for those that would like to have an advocate that knows a little bit of the system and can kind of to help help advocate for them. And so yes, that is something that, you know, she’s now realizing that she has this wonderful knowledge that she can, can use to help others, you know, to to really maximize the potential of what they can achieve to their IPs.
1:22:31
Well, we would love to have that conversation with her because it’s a very important conversation, if she’s, if she’s willing to share that, that gold that she has. And it’s the difference between the almost right word and the right word, is the difference between the lightning bug and the lightning. And that was Mark Twain who said that a variable
1:22:56
isn’t a nightmare, having this all of human knowledge right at your fingertips. That’s pretty cool.
1:23:01
But But no, I just I feel like, you know, we’ll bring it back around. Because I do think it’s all interconnected. I do think it’s about equality. I think it’s you said it before, you know, when you’re talking about research, we can’t be separate. We shouldn’t be separate in the classroom, we shouldn’t be separate in society. It’s, it’s about inclusion. Across the board, in and society in the world, its inclusion, and diversity, because we learn from each other. And we’re all connected, no matter how much people want to think that we are separate. And we’re on these separate paths, and we don’t affect each other, we affect each other in every single way. And with our with our, our breath, and our words and our thoughts and our attitudes and the way we treat each other. When we can get to a place that we know that we are connected well, we can get to a place that we’re not competing. We’re we’re doing it for the good of all mankind, or womankind, all humankind. When we can get to that place, I think that’s when we will start to see successes across the board. Because it’s like you’re trying to do something and you have this missing piece, but somebody else it’s like putting together a puzzle, someone else has that piece. And it’s so much easier when we play together, isn’t it it’s so much easier when we work together to find the answers and to change this world for the better to evolve. And I’m so thankful that you’re there. I’m thankful that you’re there bringing equality to this research.
1:24:37
Well, thank you, I appreciate that. I will say also, I want to thank you guys for all that you do as well. I mean, I you know, with this podcast and for all the advocacy that you do, you know you are making a huge difference as well. You know, and, and raising this awareness and just bringing to light, you know, all of these different issues and concerns around Down syndrome. I can’t thank you enough for all that you do as well.
1:25:00
Well, you were going to be at the retreat. Yes. Next month. Yep.
1:25:05
So for anybody who signed up for the dsgn retreat, you can look forward to seeing Tom there.
1:25:12
And as a rockin Dad, I’ll be a participant I’ll be I’ll be engaged in enjoying the retreat as well myself.
1:25:17
Are you going for the baseball game?
1:25:19
Oh, yes. Yeah, I’m a big Cardinals fan. So yeah. Yeah, box seats. Perfect. That’s
1:25:23
amazing. Maybe you and Ben can come back with us and discuss the retreat and everything. I I love to be a fly on the wall and some of the conversations and the things that you’ve learned and share. And my my hope is that any father who receives diagnosis never thinks twice about playing baseball with their son. Because that, you know, any mother who received the diagnosis, never doubts, or has to grieve any unknown. There’s no There’s no reason for it. There’s too much to celebrate. Absolutely.
1:25:59
Thank you, Tom. All right. Thank
1:26:01
you so much. I appreciate it.
1:26:03
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If We Knew Then - A Down Syndrome Advocacy Podcast 