Michelle Sie Whitten and Joaquin Espinosa

♪ (Music playing) ♪ Welcome to the Aaron Harber Show.

My first special guest today is Michelle Sie Whitten.

The founder and CEO of the Global Down Syndrome Foundation.

The world's leading NGO when it comes to working to save lives and dramatically improve the health outcomes for people with down syndrome.

Thanks Michelle for joining me.

- Thanks for having me.

- It's great to have you here.

- My next guest is Dr. Joaquin Espinoza, the Executive Director of the Linda Crnic Institute for Down Syndrome who is also a professor at the Department of Pharmacology at the University of Colorado School of Medicine, and is a leader in the molecular oncology program at the University of Colorado Cancer Center.

Joaquin, thank you for being here.

- Thank you.

- Oh it's my pleasure, one of the things I want to start off with, just for viewers because I think a lot of viewers don't understand what down syndrome is, what it means, so Michelle could you kind of introduce viewers to down syndrome?

- Yes of course from a definition perspective it's when a person is born with three copies of chromosome 21 instead of two, and that third chromosome creates kind of a different spectrum, but it does not dictate who we are going to be or what you're going to do, also as a mom of a 20-year-old with down syndrome, it's a very small part of who my daughter is, but it does create some unique health challenges and that's why we created the Global Down Syndrome Foundation as well as Crnic Institute for down syndrome.

- Yes you know I have been fortunate because I have gotten to see Sophia grow up from being a baby, onward, so I feel very fortunate and I've been pretty amazed at you as a mom and Tom is a dad, pretty incredible.

So, let's talk a little bit about your research and what you're doing, not just at the center but at the Oncology Center as well.

- Yeah, so for Michelle I have family, and partners of University of Colorado we have been able to create the largest center for down syndrome research in the world, the Crnic Institute for Down syndrome.

Over the years we have induced a lot of scientists to become interested in the study of these conditions and we have more than 60 research teams.

200 scientists at the Anschutz medical campus, studying different aspects of the condition, as Michelle was saying a person with down syndrome has a slightly different genetic makeup and they have a different risk spectrum, they do not get solid malignancies as an adult, it's very rare to hear of a man with Down Syndrome getting prostate cancer, very rare of a woman with down syndrome getting breast cancer.

Now unfortunately they have more autoimmune conditions, Alzheimer's disease, have higher risk of some leukemias, so we the scientists are trying to understand how the extra chromosome achieves these effects, with the hope of coming up with solutions for people with down syndrome, I should say though we trust that as we do the research, we make discoveries that may help everyone with the general population not just people with down syndrome.

- Yes, if you can figure out why they do not get any of those tumors, the rest of us would really like to know.

So yeah, I think that when you look at the research that Global has sponsored, it's clear that it has ultimately benefited the entire population.

- Correct, I think that something people need to appreciate.

Talk a little bit about, each of you, one of the things that is fascinating to me, is how the lifespan of a person with down syndrome has just skyrocketed, where 30 to 40 years ago, the average lifespan was in the 30s or something like that, and now it's 60 years or longer.

So talk about that Michelle.

- Yes, so it was very striking to me when I was pregnant with Sophia because I had actually gotten a prenatal diagnosis and was doing research, that in the 1980s the lifespan was 28 years old, and the dramatic increase in part is because there was deinstitutionalization in the United States.

A lot of people say oh it's because the heart surgery improved, but let's talk turkey.

Most of our children and adults were institutionalized in those institutions which was inhumane, kind of a dark past of the United States, they were not given the opportunity for medical care for school or even sometimes to go out of a padded cell, it was kind of like an asylum.

And so because of that, the lifespan was really truncated, you can imagine the other thing that did happen was quite a few you know let's call it 20% of our kiddos are born with a congenital heart disease, that actually requires a pretty major surgery, and that surgery had improved over the years and so those people with down syndrome all of a sudden their life expectancy increased.

But that 60, you know it's hard to lean into we see a lot of people passing away in their 50s, it's a dagger to my heart when I see an obituary like that, it's not proportionate it's different for different ethnic groups, so if you look at black and African Americans, there's one study that puts it at 36, so we got a lot more work to do.

What Dr. Espinoza and the Crnic Institute have done and you know with our advocacy in DC allowing that funding to happen, has been transformative, and is increasing lifespan, but we have so much work to do to make sure that last 20 years, that they are healthy and not miserable, and that also that rural population African-Americans and Blacks that those populations also benefit from increased lifespan.

- So you mentioned in terms of support, research support from Washington, in the past down syndrome research received very little funding.

I know through your work with global, the Global Down Syndrome Foundation you have been able to quadruple or more, what more do we need to do and what kind of target would you want to see in terms of research and resources?

- We would definitely like to see over 250 million a year, like if you look at autism, if you look at what I call the grown-up diseases or conditions that have been there and have all sorts of this core and that core and these big grants, but I will let Dr. Espinosa talk a little bit about what he saw from the NIH, and how as a recipient and also a leader of the community looking at many other universities even outside of the US, how the NIH funding is transforming the landscape.

- Transformative is the right word, thanks to advocacy efforts the National Institutes of Health has more than quadrupled their investment in the study, of down syndrome and what happens then is you bring a lot of new talent and new ideas, bold ideas, big projects, here at the University of Colorado we're leading with securing competitive funding, we are seeing scientists fascinated by the study of the condition of making transformative discoveries in real-time, let me give you one example, discoveries that were made in 2016, not too long ago, the clinical trials that started recruiting in 2020, are now about to complete activities in 2024, so in our lifetime we're seeing discoveries changing to clinical trials and helping individuals with down syndrome one example is our studies of the immune system and down syndrome, they have a hyperactive immune system when we turn it down and bring it down to normal range of activity we saw kinds of benefits this is one example.

- Talk more about the interdisciplinary nature of your work and the collaborations you've been able to put together.

- Yes thank you, so this extra copy of chromosome 21 affects every major organ system.

Not just your brain, lungs, or bone marrow, it's throughout your body.

So we need to understand down syndrome as a multi organ condition.

That's where the collaborations are needed, because you may think that is the difference or something that is brain-based, but it may be related to inflammation throughout the lifespan.

Maybe to the fact that they are growing more slowly because of some deficiency and some growth hormone, so that's where you need to get the neurologist to talk to the immunologist, and talk to the biologists for those collaboration so here the University of Colorado would been very successful at making those bridges.

- And creating the epicenter for down syndrome research and medical care, and that's really my dad's vision, from the beginning if you don't mind me talk about that a little bit, so he was just so astounded when Tom Check, you, Leslie [indiscernible], we all got together and created a summit and he was like it's therapeutic leverage.

So if we help people with down syndrome of course the goal is to help them but if it can be helping other people, and that was the tip of the spear into our lobbying, in Washington DC because they weren't paying attention to down syndrome unfortunately but then when you talked about the therapeutic leverage it got people's attention and then in 2017 after their great find, I mean really in 20 years the biggest finding ever that we can categorize down syndrome as an immune system disorder that was a finding in 2016 bringing that to Congress as well as showing that it was being funded at 20 million a year, for the last 20 years or less, was quite striking to them, and that was the beginning of this wonderful Renaissance, from Congress and NIH for funding down syndrome research in a trans NIH model.

So we are really excited that it actually worked, it does not always work as you know, when you lobby in DC.

- No it's tough and you mentioned your dad, we have a few photos by the way which I really would love people to see, so we are going to put them up on the screen and I'm going to comment on a couple of them, but certainly his vision, your mom and dad support of global has been just extraordinary, the commitment that they made, and I'm sure we lost your mom but I know she had to be really happy with that.

Now on the screen, one of the things that you have, well it's too late, you can turn around and look, but here's the family, at least John and Anna and Joaquin, we just missed Patrick and Sophia, and you are in the lab, there's Colin Farrell down syndrome, that's a great picture and the number of folks that you have in Hollywood supporting Global is really amazing, it looks like you two are testifying somewhere.

- Yes 2017.

- 2017 and that shot, and obviously you've been very very effective doing that.

I think this is some of the folks that are some of your team and Joaquin.

So yes and some of the folks who you are helping as well.

So I really love that picture.

This is my favorite, that's little Sophia with her mom and I don't know who took that picture, but I just think that is such a fabulous picture, of course she's now in college.

- And that's my mom's legacy.

- And in a dorm.

- Yes oh my goodness for a week we will see if it works.

- That's just amazing.

- One of the things I want to talk about is a really serious public affairs issue which is how people in the general population view those who have Down syndrome.

How the medical and scientific establishments are advancing whether it be in terms of gene editing with crispr, and the ability to intervene, in vitro, with the fetus, with down syndrome, and I think this is-- these decisions are going to become more and more common, give me your take on that, and also I'm really interested in I'm sorry if I'm loading up too many questions, but the idea of I mean as science advances, people having children are going to have the option of deciding what their child is going to be and look like, and I can see that being attractive to a lot of people I also think there's an element of that that's really scary in terms of you know homogeneous population, so I would like you both to comment on all those is that too many topics at once?

- No no, it's what we think about every day, actually I think there is not a scientist that wouldn't agree to the fact that the bio-ethics of research in science is not keeping up.

It really is hard to keep up, from the global perspective, in terms of life, let's talk about that for a moment, we are not pro-choice, we are not pro-life, we are pro-information, however we draw the line where we are fiercely anti-eugenics, especially in the US, where that eugenics movement started this idea the this group of people is less and should be exterminated, that was here, and I think in the US, there's been a lot of change, I think we've been part of the change, a lot of great organizations that have led to that change, including Global and Crnic and the Center for Down Syndrome at Children's Hospital, where you're seeing people with down syndrome on TV and movies as models, so again we are getting out there which is great, but there still is so much discrimination, it is shocking where you still have hospitals where somebody sees a person with down syndrome and they will put a DNR do not resuscitate on them with a sticky note, and the family gets all freaked out maybe they will sue, it's still different, now when you have like we have in Colorado this epicenter where now we have we are the largest pediatric medical Center for down syndrome in the US, second largest in the world after France, and 2200+ patients, we have created an ecosystem where a child is born with it, congratulations, here's all the support, it feels really good right, and that has had a huge effect locally, and then there's the support but you can have a C Center everywhere, so how do we build support so that we have invested in translating the American Academy of Pediatrics guidelines into many languages, created the first ever global adult guidelines, there's never been evidence-based guidelines for adults with Down Syndrome, so kind of that's how we are approaching all those issues but I have to say it's different in different parts of the US and then when you go overseas, it's heartbreaking in certain continents and many countries, where they are back where we were where it's very what we call eugenics framework if not outright eugenics, and we will always step up in those cases and do our best to help people in those areas.

- I think we have to agree that nobody has better genes and better genetic makeup than anybody else.

We do not choose our genomes or genes or chromosomes, we should not be discriminated because of our genetic content, and that applies to people with down syndrome who have an extra chromosome and 21, that applies to those of us with an XY sex chromosomes so, males or XX females, that applies to those of us that have different genes that produce different pigments in our skin, that applies to those of us that have a genetic makeup that makes us neuro-diverse, and we should value all of us regardless of our genetic makeup.

So we should not discriminate people with down syndrome, because of their genes, we need to make sure that they have good healthcare, that is customized to their needs, and let them make their contributions to society, and if you let them you'll be surprised how wonderful you know their artistic contributions, intellectual contributions, athletes, and so we cannot say that people with down syndrome are less than the general population if we do not give them good health and opportunities.

- What do you see research wise, what kind of breakthroughs are the next that you would like to see happen?

- I would like to see that lifespan that we talked about, that has increased up to nearly 60 or so.

We need to make sure that people with down syndrome can live the same lifespan everyone else can.

And I think we have some good ideas about how the extra chromosome may be causing this accelerated aging and part of that is the hyperactivity in the immune system, the immune system is on all the time it will cause damage and you will age prematurely.

Part of that is they are at high risk for Alzheimer's disease, it's a gene that with an extra chromosome that causes the blocks in the brain we need to take care of that.

So I would like to see that 60 or so become 65 or 70 or 75 and then people with down syndrome have the same lifespan as everyone else.

- I love those goals.

And I'm looking forward to seeing even others that have achieved them.

One of the things that fascinated me about your journey, is you have created and led this organization to an extraordinary level of success, give me some thoughts about what you learned about leadership, and what you think some of your biggest accomplishments are, and I'm gonna ask you where you think you may have stumbled on occasion.

- Yes definitely, I think what I've learned is that from my own unique perspective, running a nonprofit is much harder than running a for-profit.

And the cable TV industry, it really is hard because you are hat in hand all the time, and really trying to build consensus, and in an infectious kind of community, I also learned that you kind of have to have tougher skin, I don't know if you remember the cable TV industry in the heydays, it was pretty collaborative, even when it was competitive.

- Everybody knew everybody.

They were very friendly.

- When I went to China to get my daughter, at the age of 83 days, you were running operations in Asia.

- Yes I was.

- And I turned on the television and it was not [indiscernible], it was [indiscernible] and I thought oh I'm going to learn something about what Chinese television is like, and instead filling the face of the screen was Mike Eiseman from National Jewish Hospital talking about tuberculosis and a program on one of the channels you were president of.

- Yes no that's so fun, so it was a lot harder, he had to have tougher skin and just be like yeah you gotta keep your head down do your good work and make a difference.

You know I do feel like that as a nonprofit really making yourself accountable to measurable outcomes, sometimes can be slippery and so making sure you do that, has been really rewarding, I think in terms of stumbling it's really the timing, also starting out with big goals and visions, in the corporate world is lauded in nonprofit or oh cocky and what does she think, and kind of toning down, I was very transparent, here are my 10 year goals, or 15, sometimes five-year goals, and sometimes toning it down and sharing a little bit, and really being collaborative I think the cable industry taught me how to do that, that's been one of our huge successes but the timing I thought like we would have the adult clinic nailed down by now, I thought we would have certain things nailed down sooner, so I think you have to times it by three in the nonprofit world, and that was where I stumbled in terms of my estimation of benchmarks.

- Also one of the things I watch carefully because of the political element is your forays into Washington, and how you ultimately had extraordinary success but I could tell at the beginning, it was tough to break through.

- Yes it was really tough and I think what we've come to the conclusion on, is that down syndrome brings people together.

People with Down syndrome are so awesome, that even in the most bizarre political environment, where people are hating on each other, they can come together under the big tent, and really bipartisanly, we say we need to support this population for a lot of different good reasons.

- Well and you have two great models of that, I mean of course you have be beautiful be yourself event here in Denver which is spectacular, but you also have a major event in Washington the gala in Washington.

- Yes absolutely we are so excited about that, so the be beautiful be yourself fashion show.

That's another example, everyone told us that no you can't make people with down syndrome models, we even had one department say we will never clothe your models.

Announce the largest in the world, the acceptability gala, again gives Quincy Jones award to a Republican and Democrat really leaning into that bipartisan nature and bringing them together and we have an ambassador with down syndrome so we had the inclusivity.

And it's growing, I think we had something like 10 or 12 representatives and then 10 people from NIH, all attending last year's event.

These are like directors, the director of NIH and Institute, so it's been really great, but talk about how that's affected your Latin American network for example.

- Yes she's right so people with down syndrome their kindness and energy they bring other people together so I think a lot of people in the general population haven't had the chance to interact with people with down syndrome, maybe misunderstanding of what's going on.

So yeah, by that particular example we have international collaborations trying to organize clinics and doctors and countries in Latin America whose populations with down syndrome create a collaborative network where we can share data, specimens with the US and expand the network to other countries around the world and make it a truly global enterprise as we are always in service of people with down syndrome.

- And we do have people like Jamie Foxx and of course is tragic that his sister died, I mean again we still get pretty emotional about it because it was so unexpected.

DeOndra Dixon, when you think about it, I would be on the road with her three times a year, so there was not anybody I was closer to besides my own daughter into lose her is just we are working through it, but you know we also Caterina Scorsone and Chauncey McGinley, Beverly Johnson, Elana Meyers Taylor the Olympian, they all have family members us down syndrome, and then all these other people who just believe in equity and social justice, so we are really lucky to have NIH champions, celebrities, but again the scientists and medical care and the people with down syndrome and the families, that's our pillar.

- All right we have less than a minute left Michelle I will give you one last quick word, what should people know?

- People should know that people with down syndrome are just like anyone else and that we will improve their quality of life, their health, and their longevity, so please support Global.

- All right I expect to see everybody at the next Global event in November, and you can join me at my table.

I would like to thank of Michelle Sie Whitten and of course Dr. Joaquin Espinoza for joining me today sharing their groundbreaking work with us.

Be sure to go to websites that we have up on the screen so you can learn more about the incredible work they're both doing.

Remember all of our programs are now available on the PBS national video platform so to view the show and all the other ones we have done just go to the Aaron Harber Show page on the PBS12.org website.

I am Aaron Harper.

Thanks for watching.

We will see you next time.

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