When their granddaughter was born with Down syndrome, Anna and John
Sie became keenly aware of a lack of resources for her as well as others
around the globe with her condition. They decided to take action, establishing
research facilities at Children’s Hospital Colorado through the
Anna and John J. Sie Foundation.
Opened in late 2010 as part of the Linda Crnic Institute for Down Syndrome
at the University of Colorado School of Medicine, the Sie Center combines
medical care with speech, physical and other therapies. It also provides
up-to-date information and support to primary care doctors and families.
The first American organization committed to eradicating the medical
and cognitive challenges associated with Down syndrome—through
clinical research and care—the Crnic Institute incorporates local
and global partners at its Anschutz Medical Campus headquarters in Aurora.
The institute is heavily supported by the Global Down Syndrome Foundation
(GDSF).
ABILITY’s Chet Cooper sat down with John Sie to talk about his
expansive career and his ambitious mission.
Chet Cooper: Tell me about your background. You were an engineer originally?
John Sie: In the late 1950s, I got a bachelor’s degree in electrical
engineering, a master’s in electrophysics, and finished my coursework
for a doctorate degree in electrophysics. Around that time, I was working
in defense electronics, and my boss, who had a PhD and MBA at Bell Labs,
said, “Gee, we can raise money and start a company.” This
was way before venture capital was available. So, for some good reason,
I stopped pursuing a PhD and started a company with him called Micro
State Electronics. Unfortunately, he passed away, and I became the president
and CEO. That company was eventually acquired by Raytheon.
Cooper: Never heard of them... Actually they’re a client of ours.
Seems that you’ve had some success without a PhD.
Sie: (laughs) When I came here at age 14 from Taiwan, I went to high
school in the Denver area. Compared to the other Chinese students who
were coming here from Taiwan, I spoke English very well. The reason
I did not complete my PhD studies was because, although they all had
their PhDs, they were all complaining that they couldn’t get into
supervisory-level management.
Cooper: Were they overqualified, or was their education not quite comparable
to what they were teaching over here?
Sie: No, I think there was a glass ceiling at that time for an Asian
with an advanced degree. “You can’t be a manager” was
the general complaint. When I was growing up in China, people were pretty
entrepreneurial. In Southeast Asia, the Chinese controlled commerce.
So in my head I said, “All of my friends have a PhD and yet none
of them has any chance of becoming a businessperson.” So I took
up my boss’s challenge and went to start a business. The rest is
history.
Cooper: Your next venture hit pretty big.
Sie: I continued to create entrepreneurial companies, and the last one
I started before I retired was the Starz-Encore movie channels.
Cooper: You’ve since sold those and retired?
Sie: Yes. I’ve been retired since 2004.
Cooper: And the next chapter of your life was the beginning of the Global
Down Syndrome Foundation.
Sie: At the Linda Crnic Institute, yes. My granddaughter, Sophia, was
born with Down syndrome, so that gave us a natural segue into what we
do now, which is to try to improve life for those with Down syndrome.
It is a rewarding place to direct my energy.
Cooper: It’s surprising that a clinic like this didn’t already
exist, given that a gap between quality-of-life issues and health issues
has always existed for people with Down syndrome.
Sie: There’s always a body of accelerating knowledge in bioscience
and biotechnology, but someone has to come in and direct focus onto
a specific condition or disease. That didn’t happen with Down syndrome
until we started the foundation.
Cooper: You were, in part, motivated by your granddaughter to make the
world a better place.
Sie: That’s correct. And it’s so exciting that within my lifetime—by
2017, we project—we will find a solution that eradicates the medical
and cognitive deficits associated with Down syndrome. So we’re
not just working around the edges to improve things; we’re getting
down to the fundamental science at both the prenatal and postnatal levels
and making changes. That’s a daunting, audacious and yet achievable
objective.
Cooper: Your goalpost is 2017?
Sie: Yes. I put that deadline on Dr. Edward McCabe and the rest of the
scientific community.
Cooper: I saw the lab being built. It’s an amazing, 10,000-square-foot
facility. My undergraduate degree was in biology, so just going into
that lab brought back some great memories. And I love goals with a deadline.
Sie: In business, you need to set milestone goals, and also, in the
negotiation for the Linda Crnic Institute, we insisted on the hard availability
of real estate. That may not seem so important, but in the long term,
space will become very important. Everybody demands space, and if you
don’t have a solid contract for it, you may not get what you need.
Did you go to Children’s Hospital Colorado? We have space there
also.
Cooper: Yes. You’ve set the foundation to do great things. That
makes me think of Shafallah Center in Qatar...
continued
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Though Down syndrome affects people around the globe, money to research
the condition lags far behind that of breast cancer or autism. Despite
advancements in rights and opportunities for people with disabilities,
families of children with Down syndrome continue to battle against diminished
expectations.
Thanks in no small part to the efforts of the Global Down Syndrome Foundation
and the Linda Crnic Institute, a new age of understanding has begun.
These Denver-based organizations seek to reframe the perception of Down
syndrome through innovative research.
ABILITY’s Chet Cooper met with the executive director of the Linda
Crnic Institute, Edward McCabe, MD, and members of the Sie Center clinic,
including program coordinator Dee Daniels, RN; director of education
Patricia McVay, MS; assistant professor Kristin Jensen, MD; and Sie
Center medical director Fran Hickey, MD, to discuss the road ahead.
Chet Cooper: How did you become a part of the clinic?
Edward McCabe: I had been chair of pediatrics at UCLA for 16 years,
but I came here in August 2010 because I was attracted to the mission
of eradicating the medical and cognitive effects of Down syndrome. It’s
a very different condition than it was 30 years ago. By changing the
educational culture, and by providing early intervention, we’ve
enhanced people’s lives.
Patricia C. Winders, a physical therapist who literally wrote the book
on gross motor skills for people with Down syndrome, had been at the
clinic by herself for two and a half years before we began adding more
people. Today we’re up to about seven faculty and eight staff members.
Even with only 15 people onboard, we stand as the largest organization
devoted to Down syndrome in the United States and possibly in the world.
We’re also unique in that we perform not only foundational research
in the biology around Down syndrome, but also translational, clinical
and outcomes research. We perform some clinical trials and offer health
services in our clinic.
Cooper: Let’s talk about the trials you’re working on.
McCabe: Adults with Down syndrome face early onset Alzheimer’s
disease, so we believe there should be clinical trials of these adults
with any drug that’s been approved for Alzheimer’s by the
Food and Drug Administration. We already know that physical activity
improves quality of life and cognition, so we’re looking into a
study of exercise right now.
Cooper: How would such a study work?
McCabe: We would probably contrast an exercise group against a sedentary
group and observe change over a set time period. We’ve also been
approached by a pharmaceutical group that wants us to educate them about
leukemia that is associated with Down syndrome.
Cooper: What other conditions are typically associated with Down?
Fran Hickey: The co-morbidity that gets the most press is heart disease,
which affects about 40 percent to 50 percent of the kids, and 20 percent
to 25 percent of them very seriously. These children develop a thing
called a canal, which is an abnormal interaction between the atrium
and the ventricles. Fortunately the outcome for that defect has greatly
improved over the last 10 or 15 years. Now there is better intervention,
better surgeries and better anesthesia.
McCabe: And people with Down syndrome also have improved access to care
today. As recently as 1990, the medical profession said: We’re
not going to give people with Down syndrome the life-saving surgeries
they need. That has changed.
If 20 percent to 25 percent of a group is dying between the ages of
two and four, that obviously has a huge impact on overall life expectancy.
Life expectancy began to change around the year 1990, because of access
to these surgeries.
Hickey: We’re trying to get data on why, exactly, things have improved.
It mostly has to do with treatment of cardiac conditions; in some instances,
we can patch patients with stents, so we don’t have to open their
chests. Some of the other defects are not that hard to treat, and some
conditions naturally go away on their own. Those are probably the biggest
changes.
There is a lot of research associated with Down syndrome that can help
everybody. Who isn’t concerned about Alzheimer’s? Everybody
knows somebody with it. But about 50 percent of people with Down syndrome
get it, and it starts earlier. That’s a big concern.
About a quarter of people with Down syndrome have small ear canals—smaller
everything, in fact—so they experience a lot of conductive problems
when they’re younger. Sensory neural problems, such as deafness,
have significantly decreased. Years ago, it was estimated that 20 percent
of people with Down syndrome were deaf at birth. Today that’s 1
percent to 2 percent, at most.
Dee Daniels: That’s because conditions are now identified earlier.
Hickey: Down syndrome research has allowed all people to improve, because
it’s created technology that helps everybody. Research on facial
and ear anomalies that has benefited people with Down syndrome has benefited
other kids with those challenges as well.
An inability to hear affects your development from the start. A lot
of people with Down syndrome have an eye-movement disorder called strabismus.
As a result, their risk of developing cataracts is higher than it is
for the rest of us, so their eyes have to be watched closely. They also
tend to have more problems with breathing and eating, because everything’s
smaller.
We know that difficulties with the chest often cause death in kids with
Down syndrome, because those with the most severe problems end up aspirating.
Every child patient of mine who has passed away has had problems with
the lungs. We need some clinical studies to look into this. Fran’s
work in this area has really energized the medical community.
McCabe: I bumped into one of our colleagues yesterday, and he began
telling me how excited he was to have access to some mouse-lung models
of Down syndrome.
Cooper: What do mice have to do with understanding the condition?
McCabe: The mouse has the chromosome 21, which is also found in humans.
My colleague has a mouse that’s trisomic—meaning that it has
three chromosomes instead of the usual two. It has a bit of chromosome
No. 10, a bit of chromosome No. 16, and a bit of chromosome No. 17,
so this mouse is allowing the team to notice some striking differences.
Now it’s just a question of breaking the code. Fran is talking
to clinical subspecialists and getting them to make the connection between
seizures and Down syndrome, or between autism and Down syndrome.
Hickey: We had a pretty good study in Cincinnati that looked at the
percentages of children with Down syndrome and autism, both of which
my son has. He kind of went downhill when he was about five or six,
and then he stabilized. My wife was phenomenal through the whole experience.
My son has made some progress, and spending time with him is the highlight
of my day.
Close to 5 percent or 6 percent of kids are likely to have a dual diagnosis
of Down syndrome and autism. The incidences of kids who solely get autism
is close to 1 percent now—1 out of 110 in the latest data.
Cooper: And for boys the numbers are 1 out of 70.
Hickey: Exactly.
Daniels: Some kids are misidentified as being autistic, when in fact
their condition is really an expressive speech disorder. They just haven’t
had enough aggressive early intervention.
Hickey: This is the thing: I’m not looking for the Holy Grail for
my kids. I’m looking to maximize what they can do. They can exercise,
for example. There are people who are 30 to 40 years old and who have
never had any exercise. They’ve never had a chance to do anything.
Exercise makes people’s lives better. It can affect the incidence
of Alzheimer’s.
It can affect a lot of things.......
continued
in ABILITY
Magazine click here to order a print copy or to subscribe
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Excerpts
from the John C. McGinley Issue
Dec/Jan 2011-12:
Kessler Foundation — Research
That Gets People Moving
John
C. McGinley — Expanding His Role
John Sie — And the Global Down Team
Food
Deserts — Activists Help Communities Get Good Food
Ashley
Fiolek — Befriends Noora, an Iranian Racer
Raketu — Cool Apps for the Deaf and Hard of Hearing
DLRC — A Fight to Protect a Boy and His Dog
Articles
in the John C. McGinley Issue; Ashley Fiolek — Befriends Noora,
an Iranian Racer; Noora Moghaddas — Befriends Ashley, a US Racer;
Humor — To Anchorage With Love Sen. Tom Harkin — Jobs + Education
= American Dream; Raketu — Cool Apps for the Deaf and Hard of Hearing;
Adaptive Golf — The Fight Over Carts; USBLN — Annual Conference
in Kentucky; Kessler Foundation — Research That Gets People Moving;
Food Deserts — Activists Help Communities Get Good Food; John C.
McGinley — Expanding His Role; John Sie — A Career That Spans
Tech, TV and Top Research; Global Down Syndrome — Bringing Their
‘A’ Team; DLRC — A Fight to Protect a Boy and His Dog;
Betsy Valnes — On Creating a World Disability Congress; ABILITY's
Crossword Puzzle; Events and Conferences...
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