Fall 2015 - Alpha

Vol. 13, No. 2 • FALL 2015
1
A MAGAZINE OF THE ALPHA-1 FOUNDATION
ALPHA- -TO-ONE
Practical advice, personal experiences and
pertinent news for people touched by ALPHA-1
Swinging
for the
Fences
PAGE 4
Triple Transplants
PAGE 8
Our new Research
PAGE 10
End of Life App
PAGE 20
FOCUS
ON THE
FOUNDATION
How we got off the ground,
and where we go from here
A tribute to some of the people who got us here,
and how the Alpha-1 community is moving forward
hen the Alpha-1 Foundation was a very young organization in the late 1990s, we could not have
achieved so much awareness or built our research
infrastructure nearly as fast as we did, without the
help of Ron and Karen Fraser and their friends.
Karen Fraser tells about her own experience with Alpha-1
and her feelings about working to help others, and we describe those first exciting fundraisers and major donations, in
this issue. See The most blessed person, page 4, and The first home
runs, page 6.
To help us move forward, a very active Alpha challenges us
to match the Sisson Trust’s generous donation of $323,000.
See Trust challenges, page 7.
And Miriam O’Day, who resigned this year as our senior director, public policy, is confident we’ll keep moving forward
thanks to our new government relations firm and grassroots
lobbyist. See O’Day leaves, page 28.
Can we predict which Alphas are likely to get liver disease?
Can we save a sick liver with gene therapy? Exactly how does
augmentation therapy help the lungs? Our record $1.8 million in new research grants will help scientists to research all
these questions and more. See Foundation awards, page 10.
Speaking of research, a reminder:
Many Alphas believe they are members of the Alpha-1
Research Registry – and they are mistaken. It’s easy to
check. Call the Registry toll free, (877) 886-2383. They’ll
also answer any other questions you have about research.
And you can join the Alpha-1 Research Registry online at
http://tinyurl.com/researchregistry.
This time of year, many people sign up for United Way and
other workplace giving programs, so we offer you some simple tips on how to contribute to the Foundation. See We are
in your office! page 18.
For information about organizing a fundraising event to benefit
Alpha-1 research, contact Angela McBride at 1 (877) 228-7321,
Ext. 233, or amcbride@alpha1.org. To learn more about
methods of giving, or to make an online donation, visit alpha1.org/
donate.
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ALPHA- -TO-ONE
Practical advice, personal experiences, and pertinent
news for people touched by Alpha-1
VOL. 13, NO. 2
Published by the Alpha-1 Foundation
3300 Ponce de Leon Blvd.
Coral Gables, FL 33134
1.877.2.CURE.A1 (228.7321)
www.alpha1.org
Alpha-1 Foundation Board of Directors
Executive Committee
Gordon E. Cadwgan, PhD,* Chair
Henry Moehring*, Vice-Chair
James Quill*, Treasurer
Dell Witcher*, Secretary
Martin R. Zamora, MD, Scientific Advisor
Ab Rees*, Immediate Past Chair
Members
Virginia Clark, MD
Tom Corron*
Jeanine M. D’Armiento, MD, PhD
Sandra Douglas +
Elizabeth Johnson*
Jennifer Jopp*
Prof. Noel G. McElvaney
Judith Simon*
James K. Stoller, MD, MS (Org. Dev)
Frank Willersinn, MD*
Editorial Board
William J. Martin II, MD Michael Krowka, MD
Miriam O’Day Jane M. Martin, BA, CRT
Bruce C. Trapnell, MD Ab Rees*
Jen Childress + John W. Walsh*
Executive Editor
Marcia F. Ritchie
Managing Editor
Bob Campbell
Contributing Editors
Alexis Artiles
Brad Bennett
Maria Virginia Deliz
Karen Erickson
Cathey Horsak
Angela McBride
Linda Rodriguez
Robert A. Sandhaus, MD, PhD, FCCP
Contributors
Barbee Bennington
Jen Childress
Elizabeth Johnson
Advertising
If you are interested in advertising, please contact
Bob Campbell at 877-228-7321 ext. 230.
ALPHA-1-TO-ONE is published by the Alpha-1 Foundation with the support
of our advertisers. No part of ALPHA-1-TO-ONE may be reproduced in any
form by any means without prior written permission of the Alpha-1
Foundation. The contents of ALPHA-1-TO-ONE are not intended to provide
personal medical advice, which should be obtained directly from a
physician. The Alpha-1 Foundation is not responsible for the accuracy
of information expressed in advertisements in this publication.
Letters to the Editor. ALPHA-1-TO-ONE would like to hear from you.
Please send letters to the editor at the Foundation or e-mail us at
editor@alpha-1foundation.org. Letters may be edited for clarity and length.
1 ALPHA-1
FOUNDATION
The Alpha-1 Foundation is committed to finding a cure for Alpha-1
Antitrypsin Deficiency and to improving the lives of people affected
by Alpha-1 worldwide.
* Diagnosed Alpha-1 Antitrypsin Deficient
+ Diagnosed Family Member
1.877.2.CURE.A1 (228.7321)
Vol. 13, No. 2 • FALL 2015
1
A MAGAZINE OF THE ALPHA-1 FOUNDATION
Inside ALPHA- -TO-ONE
Features
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10
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20
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30
24
28
SPOTLIGHT
The first BIG events
Ron and Karen Fraser put the Alpha-1 Foundation on the map
FRONTIERS
The search for a cure
Foundation awards a record $1.8 million for Alpha-1 research
Bringing living wills to life
iPad app will help to ensure that advance directives are followed
ALPHA LIFE
Issuing the challenge
Trust encourages Alpha-1 community to match its $323,000 donation
Three’s company
Three Alphas get lung transplants in the same week at the same hospital
Planning for success
Global Alpha-1 community sets goals and strategies
Coming together for a cause
National Education Conference provides support, networking and expertise
Breathing easier
A doctor’s scary predictions led Kathleen Brown to her new career
24
ALPHA-1 KIDS
What an Alpha-1 kid’s parents can do
Seek out the Alpha-1 experts, says a father who did just that
26
SUPPORT GROUP UPDATE
Nothing beats face-to-face
The long list of benefits of having more people who care in your life
28
IN YOUR INTEREST
Passing the torch
Foundation hires new government relations firm and a grassroots lobbyist
Couldn’t attend
the Conference?
No problem! The latest expert talks, Miriam O’Day’s
call to arms and many other presentations are
available online. See vimeo.com/a1f
fb.com/alpha1foundation
www.alpha1.org
@AlphaFriend
@alpha1foundation
3
SPOTLIGHT
‘The most
blessed person
in the world’
Karen Fraser talks about life with Alpha-1,
her late husband Ron Fraser, and how she got
involved with the Alpha-1 Foundation.
y husband was always concerned because
I got sick so much. I’d get sinus infections, bronchitis, and now and then
pneumonia. Ron would take me to different doctors, trying to find out what was wrong.
‘”This is not normal,” he would say. “There’s got to
be something wrong with her immune system.”
M
Ron and Karen Fraser
In May of 1995, I was hospitalized with a collapsed lung and pneumonia. I was sent to an internist, Judi Woolger, for follow-up. Dr. Woolger
said that my lungs were slightly hyperinflated, a
sign of emphysema. I was 34 and I had never
smoked. She ordered a blood draw to test me for
“this rare deficiency. I’m sure you don’t have it,
but just in case.”
She called me when the test came back to tell me I
did have the deficiency, Alpha-1. She promised to
4
do some research and then we’d sit down and discuss it.
A few days later, the pneumonia came back and I
was hospitalized again. At that time, Dr. Woolger
still hadn’t had a chance to explain Alpha-1 Antitrypsin Deficiency to me.
Ron and I were in my hospital room, and suddenly
it was packed with young doctors making the
rounds. They were discussing this strange “Alpha
thing,” and we had no clue what they were talking
about. As they were leaving, my husband grabbed
the last two doctors going out of the room and
asked what Alpha-1 was. They said, “Oh, it’s this
rare disease and it’s terminal, there’s no cure.” Then
they ran out of the door to catch up to their group.
Ron and I just stared at each other. I said, “Did they
just tell me that I’m dying?”
Ron was so upset, picked up the phone and said,
“Get me Judi Woolger. This is an emergency.”
She came rushing to the room, very apologetic, and
told me, “Yes, you have a genetic disease, and yes,
it’s rare, but there’s a treatment for this. Bear with
me, and don’t panic. You’re fine, everything’s going
to be OK.”
So I got better and went home again. A couple of
days later, Ron went to the country club to pick up
his golf shoes from the locker room.
Jim Lane, who Ron knew from the club, also happened to be there. He said, “Hey Coach, how’s
your wife? I heard she hasn’t been well, she had
pneumonia.”
Ron said, “Yes, and I don’t know what to do. She
has this disease, Alpha something and I don’t anything know about it, some doctors said she might
die.’
And Jim said, “You mean Alpha-1 Antitrypsin Deficiency?”
And Ron said, “What? You heard of this?”
And Jim said, “Oh yeah, my company infuses patients with Alpha-1 all the time.” And he told Ron,
“You’ve got to meet this guy, John Walsh.” We had
no idea at the time how blessed we were to make
that connection.
A couple of weeks later we had an appointment
with Dr. Michael Krowka at Mayo Clinic in Jacksonville. He was my first Alpha doc, and he made
us feel so much better. He suggested I think about
augmentation therapy, but said, “I’m not saying you
need to go on it right now.” We spent the summer
1.877.2.CURE.A1 (228.7321)
in North Carolina, discussing my options, and decided to wait on starting therapy.
And 20 years later, I’m still
not on augmentation. Since
that time, I knew the precautions I needed to take.
My husband and I really cut
back on the number of dinners and sporting events we
went to. The doctors said I
Karen Fraser riding had to be careful about my
in an early Team
exposures: if I was shaking
Alpha-1 event.
hands, I had to wash them
constantly. And it all helped. I still got sick, but
not nearly as often, and not nearly as bad.
When I saw Charlie Strange recently to participate
in the GRADS study, he showed me little pockets
in my lungs on a CT scan that he diagnosed as very
mild emphysema and bronchiectasis. But I still
have great lung function; my FEV1 score is practically perfect.
When we got back from North Carolina, we finally
met John Walsh. We were so inspired by him and
the other Alphas we met, like Sandy Lindsey and
Susan Stanley. We went to an Alpha-1 Foundation
Board meeting that fall. The Foundation had just
been incorporated earlier that year. A meeting later
I was on the Board, then I became Secretary, and
soon after that, I was honored to become the Chair.
In the 20 years I’ve known John, he’s worked nonstop – he’s dedicated his life to finding a cure. He is a
champion for all of us. And he’s not doing it for himself; he’s doing it for all Alphas and their families.
I’m so fortunate to know so many wonderful Alphas
who work so hard, often when they’re struggling
with their own disease, and many of whom have
since passed away. They were doing this because they
were thinking of others – amazing people.
And Ron was friends with so many great people
who helped us, more than I could possibly mention.
But I really want to acknowledge our dear friends
Barbara and Michael Weintraub, and Earl and
Christy Powell, not only for their generosity, but for
all of their hard work and dedication on behalf of all
Alphas. They made so many things possible for our
community. (See The first home runs, page 6.)
I feel like the most blessed person in the world, having Alpha-1. It’s brought me into this family that I
have grown to love so much and who inspire me beyond words.
www.alpha1.org
Ron always took great care of me and our family. He
was the best husband, father and grandfather anyone
could imagine. He had a huge heart, and cared so
much about helping others. He was not only the
love of my life, but he was also my hero, and I think
he was an Alpha-1 hero, too. He absolutely loved the
Alpha-1 community and did everything he could to
help. It was through him that I came to have all
these friends who helped make things happen in the
early years of the Foundation.
I don’t know why I’m so blessed, that even though I
had so many symptoms – I was sick all the time, I
had pneumonia, I was always tired, I had all these
signs except for COPD – I’ve been able to stay so
healthy overall for 20 years, it’s incredible.
I feel a great responsibility to help people who
aren’t as fortunate as I am. I can participate in research for those who can’t. I want to find a cure, I
want to find new therapies, and I want to be a part
of helping other Alphas, just like so many other Alphas in our amazing community.
Ron Fraser, who died
in 2013 at age 79, was
called “the wizard of
college baseball,” acknowledged everywhere as the man who
made the University
of Miami baseball
team a powerhouse
during his 30 years as
coach. He also made
the Hurricanes a moneymaker, not just by
winning but by staging constant promotions: raffles,
giveaways, a parachute drop-in day, a
swimsuit day – “Good
clean, family fun,” he
always said. When a
7-foot statue of Fraser
was placed in front of
the team ballpark,
Miami Herald columnist Greg Cote noted
that the park’s official
name is Mark Light
Field at Alex Rodriguez Park. Said Cote: “No matter. Everybody
knows the truth. This is the House That Ron
Built.” Fraser was also largely responsible for
getting college baseball games televised, building their popularity.
5
SPOTLIGHT
The first
home runs
on and Karen Fraser and their many
friends put a young Alpha-1 Foundation
on the map.
Major League Baseball’s first interleague
game in Miami was in 1997, when the reigning
World Champion New York Yankees played a doubleheader with the Florida Marlins. The games inspired a Grand Slam Luncheon, since Ron Fraser
was a friend of Yankees manager Joe Torre, his
brother Frank Torre, and Marlins owner Wayne
Huizenga and Marlins manager Jim Leyland. Joe
DiMaggio, another friend of Ron’s, threw out the
first pitch that night.
The Marlins won the World Series in 1997, and the
Yankees won it again in 1998, when a second
Grand Slam Luncheon was held. “Quite a three-year
stretch,” Karen Fraser notes.
The Foundation built an Alpha-1 research infrastructure in the late 1990s largely through the generosity and help of the Frasers’ friends.
Barbara and Michael Weintraub, and their friends
at the Health Foundation of South Florida, includ-
R
ing its president and CEO, John O’Neill Jr., led to
the Foundation’s first million-dollar donation in
1998. “That was critical,” says Fraser. “It was critical not only to help fund our research, but it also
gave the Alpha-1 Foundation great credibility
within the charitable community, and the general
community too.”
An earlier Health Foundation grant had funded establishment of the Alpha-1 Research Registry.
The Joseph Weintraub Family Foundation provided the seed money that, with matching
grants, made it possible to establish the endowed professorship that brought Mark Brantly,
MD, to the University of Florida in 1998 to lead
its Alpha-1 Research Program.
In 2000, Earl and Christy Powell, inspired by
Karen Fraser’s genetic health condition, donated $3
million to found the Powell Gene Therapy Center
at the University of Florida. Alpha-1 researcher
Terry Flotte, MD, was its first director.
Karen Fraser was on the Foundation’s Board from
1996 to 2004, and was Chair in 1998-99.
OUR EARLY STARS — Top left, the
Dodgers’ Tom Lasorda and Ron Fraser;
Earl and Christy Powell with Karen Fraser,
Barbara Weintraub and John Walsh; at
right, Frank Torre, who campaigned for
organ donations after his heart transplant,
speaking at a Grand Slam Luncheon; Joe
Torre and master of ceremonies Frank Deford give Karen a “Rookie of the Year”
award. Frank Torre died in 2014 at age 82,
after living 18 years with his new heart.
6
1.877.2.CURE.A1 (228.7321)
he Harry A. Sisson Charitable Trust has
donated $323,000 to the Alpha-1 Foundation, challenging the Alpha-1 community and supporters to raise a
matching amount.
The money will fund the Alpha-1 Foundation’s research programs to seek new treatments and ultimately a cure for Alpha-1. The grant was
announced to the Alpha-1 community this summer
at the National Alpha-1 Education Conference.
“We have a wonderful opportunity to raise more
than half a million dollars for Alpha-1 research by
matching this grant,” said John Walsh, president
and CEO of the Foundation. “By stepping up to this
challenge, we are moving one step closer to a cure.”
Mary Lyle, an administrator of the Sisson Trust,
knows well the difficulties that people with
Alpha-1 face. Nearly two decades ago, Lyle, of
Southfield, MI, had a cold that would not go
away. She was diagnosed with asthma, but allergy
shots and inhalers did not improve her condition.
Finally, in 2010, a pulmonologist gave her a blood
test that revealed she had Alpha-1, and told her this
was the cause of her emphysema.
Lyle wants to help other Alphas avoid the confusion
she faced by getting a prompt, proper diagnosis,
and ultimately finding a cure.
She and her husband Jim are part of a family that
includes four ZZ’s and four MZ’s. Her three daughters all have Alpha-1, and one of them – like Lyle –
is on augmentation therapy. Her three grandchildren, in their 20s, and her husband are all carriers.
Lyle has not allowed Alpha-1 to dampen her
lifestyle. She went to Hawaii a few years ago and
climbed to the top of Diamond Head. She regularly
does Pilates, weight training and yoga.
Her active campaign to find a cure for Alpha-1 led
her to the Alpha-1 Foundation, and to AlphaNet
T
www.alpha1.org
ALPHA LIFE
Trust challenges
Alpha-1 community
to match $323,000
Mary Lyle, her family behind her, receives an
“Alpha Star” award from John Walsh
health management services. She and her daughters
have joined numerous clinical trials led by Alpha-1
researchers. With her daughter Megan, she knits
decorative scarves and sells them, donating the proceeds to the Foundation’s research programs.
She has educated her doctors about Alpha-1, and
now they all know how to recognize the signs and
symptoms they missed with her.
For her numerous efforts to help Alphas, the Foundation presented an “Alpha star” award to her at the
annual conference.
Her involvement with the Sisson Charitable Trust is
also rooted in her family. Her father was a member
of the Dearborn Rotary Club, where he was a close
friend of another member, Harry Sisson. When Sisson passed away, he created the trust, which her father facilitated. After her father’s death about 15
years ago, Lyle took over, administering the trust
with Sisson’s nephew.
In May, she called Walsh, the Foundation’s CEO, to
inform him of the trust’s gift.
She says she has a simple motivation for all that she
does: “We just want to help with research.”
And you can make yourself part of the equation.
The Sisson Trust Gift + your generous donation =
Double the impact for Alphas everywhere.
To donate, go to www.alpha1.org/donate
7
ALPHA LIFE
8
Good news
comes in threes
Three Alphas get lung
transplants at the same
hospital in the same week
ark Melies woke up to see his friends and
relatives gathered around his hospital
bed. Four nights earlier, he had been
found unconscious at home. As part of
his home hospice care, he was receiving morphine
to help him sleep. This time, however, he took too
much, fell down, and blacked out.
Before the accident, he had essentially given up,
and simply wanted to be as happy and comfortable
as possible in the short time that he had left. But
this latest experience changed his mind.
“When I saw how everyone had gathered to be
there in the hospital room with me, it gave me a
new determination,” Melies said. “If they weren’t
ready to give up on me, then I wouldn’t give up
on myself.”
Melies was one of three Alphas who received lung
transplants at Barnes Jewish Hospital in St. Louis,
MO, in January – all within four days of one another. Following their transplants, Melies, David
Gilbert and Julie Swanson met at rehab, inspired
each other, and have since become friends.
Melies had been diagnosed with Alpha-1 after his
family suggested he get tested. His younger brother
had been diagnosed years earlier. At the time, he
thought of himself as a healthy person and never
visited doctors, but he noticed that his breathing
was getting worse.
“After the diagnosis, the deterioration came on so
fast,” he recalled. “I was too far gone for infusions to
help. And the last thing I wanted was a transplant. I
decided to take it easy and focus on quality of life. But
that backfired. The less active I was, the faster my
lungs deteriorated. Soon, I was on home hospice care.”
M
After leaving the hospital, he decided to explore the
option of a transplant, with support from loved
ones. This, he knew, would mean he had to get
healthy enough to undergo the procedure.
“I began pulmonary rehab. Insurance wasn’t going
to pay for it,” he said. “My pulmonologist said
that we would see this through together, and
arranged to have my rehab paid for by the hospital
foundation. I began to volunteer at the hospital,
and my lung function and general health gradually improved.”
Eight months after being placed on the list for a
lung transplant, he got the call. The lungs were
ready, but at the time he had a fever, and was too ill
to receive the transplant. A month later, he got another call. Another set of lungs was ready, but again
he was not feeling well and had to turn down the
transplant. He finally underwent the procedure on
Jan. 21, 2015.
David Gilbert was diagnosed with Alpha-1 in
1996, and began using augmentation the following
year. But he still played softball, built houses, and
worked as an automotive technician. He remained
at work for the next 11 years until he had a severe
bout of pneumonia. His lung function had deteriorated significantly.
“My first evaluation was done at University of
Michigan in 2007,” Gilbert said. “Later I got evaluated for a transplant at Barnes Jewish Hospital. My
lung function was down to 19 percent, so I decided
to go for a transplant. We spent a year raising funds
and moved to St. Louis in August 2011. After another year of waiting, I received the transplant.
Everything went well, and I soon felt great.”
Gilbert’s progress was short-lived. After numerous
infections, his body rejected the new lungs. He was
re-listed for transplantation, and after another 16
months of waiting, he had his second transplant on
Jan. 31, 2015, receiving a set of lungs that Melies
had passed up because he had been too ill.
This turned out to be more unusual than either had
realized at first. The fact that two Alpha-1 patients
were undergoing transplant surgery in the same place
only days apart was a rare occurrence. What made it
unprecedented was that there was a third Alpha receiving her transplant at Barnes the same week.
Julie Swanson had been diagnosed in 1988. She did
well on 24 percent lung function until 2011, when
her health began to decline.
1.877.2.CURE.A1 (228.7321)
Mark Melies, left, Julie Swanson and David Gilbert.
“The years just prior to transplant surgery were difficult,” Swanson said. “I was on oxygen 24/7, and I
could barely move. I walked on a treadmill about
half an hour a day, but I was essentially homebound.
Just getting in and out of a car was a struggle. I had
to stay fit enough for surgery, but by January 2015 I
didn’t think I’d make it to the summer.”
She got the call on a Saturday morning.
“It was so surreal,” she said. “I had been preparing
suitcases all year and switching from winter to summer clothes. I hadn’t packed the winter stuff,
though, so I had to throw together some warm
clothes and make the trip.”
The four-hour drive to St. Louis seemed to go
quickly, she said. “I felt confident. I wasn’t very
nervous at all.”
The donor lungs arrived the next morning and the
surgery went well. The following day, she began
walking a little. “I felt great. We were joking
around and I was laughing,” she said. “Someone
mentioned that this was the first time they’d heard
me laugh without coughing in years.”
After a few days, doctors detected a slight leak in a
transplanted lung, and Swanson had to undergo a
second procedure to repair it.
“It laid me up a bit longer,” she said, “but I finally
got out of the ICU and into a room.”
www.alpha1.org
By then, Melies, Gilbert and Swanson had heard
about one another. Each was anxious to meet the
others. They finally connected in rehab.
“I realized that David got the set of lungs I didn’t
get,” Melies said. “He was a mentor for me during
rehab. After all, this was his second set of transplanted lungs. He knew the ropes. Julie had a
wealth of knowledge about Alpha-1. She had run a
support group in Kansas City. I feel blessed that I
was able to go through this with them. Now, every
day I find a new first.”
Swanson said she was anxious to meet Melies and
Gilbert after learning that they were all Alphas who
received lung transplants in the same hospital at almost the same time.
“We forged an instant connection,” she said. “They
were both recovering well. That was an inspiration
to me. Their example made me get tougher and
work harder. We keep in touch via Facebook, email
and sometimes by phone.”
Gilbert said the fantastic attitude that Swanson and
Melies displayed really lifted his spirits.
“Now they’re kind of like family,” he said. “One
thing we all agree on is that, whether you’re waiting
for a transplant or living with Alpha-1, it is vital to
stay fit, get exercise, and eat right. A sedentary life
isn’t proactive. Whatever you do, do something.”
9
FRONTIERS
10
Foundation
awards a record
$1.8 million for
Alpha-1research
hich Alphas are likely to get liver disease? Can transplanted cells rescue a
sick liver? How does augmentation
therapy help the lungs?
Researchers are looking for answers to these questions and more as they seek better ways of treating
people with Alpha-1 Antitrypsin Deficiency
(Alpha-1). Their ultimate goal is to find a cure.
The Alpha-1 Foundation has awarded a record $1.8
million to 14 scientists as part of its “in-cycle”
grants program in 2015. The cycle begins in July
2015 and ends in June 2016.
“Almost all these grants address new treatments
for lung or liver disease, either directly or by discovering new ways of targeting cells for treatment,”
said Adam Wanner, MD, the Foundation’s scientific director.
The Foundation awards in-cycle grants every year.
The $1.4 million natural history study of adult
Alpha-1 liver disease is the largest portion of the
$2.3 million that the Foundation has committed to
research outside of the grant cycle.
Here is a look at the research projects:
Dorota Skowyra, PhD
of the Saint Louis University School of Medicine, plans to develop a
diagnostic test that will
determine an Alpha’s
risk of liver failure. Currently, there is no test
that can predict whether
or not an Alpha will develop liver disease
quickly, slowly, or at all. Skowyra says the test
would tell doctors which patients should be treated
W
for liver failure, even before they have developed
any symptoms.
Catherine Greene, PhD
of the Royal College of
Surgeons in Ireland, will
study how augmentation
therapy, the only specific
treatment for the lung
diseases of Alpha-1,
works in the body. By
using cells isolated from
people with and without
Alpha-1, she hopes to
find new evidence for how augmentation provides
its benefits.
Zahida Khan, MD,
PhD of the University of
Pittsburgh, wants to
know if “liver progenitor
cells” can rescue sick livers. Inside the liver of an
Alpha, the alpha-1 protein does not fold properly, and some of it gets
stuck in the liver cell. In
Alphas with the ZZ
genotype, the more ZZ protein that gets stuck in a
liver cell, the sicker the cell becomes. Khan will
study whether “liver progenitor cells” can rescue the
sick liver cells and restore normal liver structure.
His research team will use mice who have been genetically engineered to model human Alpha-1 liver
disease. The liver progenitor cells will be transplanted from one mouse into a second one, to see if
the transplanted cells will rescue the sicker cells in
the second mouse’s liver. If the procedure is successful, it could be developed into gene therapy or liver
cell transplantation, which would help to ease the
shortage of liver organ donors.
Ravi Mahadeva, MD of
the University of Cambridge, U.K., will study
why some Alphas get
sick while others stay
healthy. He will look at
outside factors that trigger disease progression.
The primary function of
the alpha-1 protein is
protecting the lungs
1.877.2.CURE.A1 (228.7321)
from irritants that can cause disease. When the protein gets stuck in the liver cells, not only can the
liver get sick, but the lungs also do not receive
enough protection from disease.
When the alpha-1 protein is exposed to cigarette
smoke, larger-than-normal amounts of harmful substances are produced. Dr. Mahadeva and his colleagues will measure these substances and how they
affect liver scarring. They will also investigate how
other environmental factors, such as infections and
alcohol, affect these molecules.
Karen McDonald,
PhD, of the University
of California at Davis,
will look into whether
plants can produce
alpha-1 protein for augmentation therapy. Currently, all commercial
augmentation therapy
products are made from
pooled donated human
blood plasma that has been highly purified for intravenous infusion. The supply is limited and the cost
of treatment is high.
McDonald will study a form of alpha-1 protein
made from plants and compare it with alpha-1 protein made from purified human plasma. She hopes
to show that the protein made from genetically
modified plants is just as safe and effective as the
human version, and that it is not as easily damaged
by oxidants. If the study is successful, the version
produced by plants may be much less expensive and
in nearly unlimited supply.
Dara Leto, PhD of
Stanford University,
plans to study exactly
how the body recognizes
and destroys abnormal
alpha-1 protein. The
body has molecular
mechanisms that detect
misfolded alpha-1 protein and destroy it. Leto
plans to study the cellular “quality network” that recognizes the defective
alpha-1 protein and ultimately breaks it down. Better understanding of the process could help to develop new strategies for treating Alpha-1.
www.alpha1.org
Dragos Mihai
Vasilescu, PhD of the
University of British Columbia, Canada, will
study donated lungs to
find out just how they
get damaged. Normal
Alpha-1 antitrypsin prevents destruction of elastic tissue fibers that
allow the lungs to
stretch as we breathe. Vasilescu plans to find out
how the elastic fibers are destroyed in Alphas. He
will use three-dimensional CT scans to study lungs
donated for research by Alphas who have received a
lung transplant. He will then use a computerized
technique to find what genes cause the elastic fiber
destruction in Alphas. This could help to find new
therapies.
Carrie Aaron, MD of
Columbia University
Medical Center plans to
study both augmentation therapy and plain
aspirin to see if they improve blood flow in the
lungs and reduce cell
damage. Aaron and her
colleagues will recruit
15 Alphas on augmentation therapy and give them small daily doses of aspirin. Then they will measure both blood flow in
the lungs and cell damage to the lining of the
lungs. As a second part of this study, she will ask
the same group of 15 Alphas to stop their infusions
for five weeks to see if augmentation therapy
reduces cell damage and improves blood flow. The
study could lead to larger studies of aspirin in
emphysema, and demonstrate another benefit of
augmentation.
Jeanine D’Armiento,
MD, PhD, of Columbia
University Medical Center will study an enzyme
called MMP-13, which
plays an important role
in liver scarring. She and
her colleagues have
found increased levels of
MMP-13 in the lungs of
emphysema patients.
11
FRONTIERS
12
They also showed that viral infections raise levels of
MMP-13, which can destroy collagen and elastin –
major components of the scaffolding of both the
lungs and liver. Her lab also showed that MMP-13
can split alpha-1 protein, and that alpha-1 protein
actually inhibits MMP-13.
To carry out her study, she plans to mate Alpha-1
mice that have elevated levels of MMP-13 in their
livers with mice that have no MMP-13. This will
help her determine if the lack of MMP-13 protects
mice from Alpha-1-related liver damage.
D’Armiento also plans to administer alpha-1 protein to animals to see if it can protect their lungs
from injury in viral infections.
Patrick Geraghty,
PhD, of Mount Sinai
Roosevelt Hospital, will
study a natural compound called phospholipid transfer protein
(PLTP), which regulates
key biological processes,
such as cholesterol metabolism. COPD patients, including Alphas,
have lower PLTP activity in their airways than
healthy people. alpha-1 protein and PTLP appear to
work together. Adding PLTP to the airways prevents the inflammation of lung disease, and the
alpha-1 protein protects PLTP from breaking down.
Geraghty and his colleagues will use genetically
modified mice to find out if Alpha-1 protein requires PTLP in the lungs to prevent inflammation,
and exactly how PTLP prevents lung inflammation
James Irving, PhD of
the University College
London in the U.K.,
plans to study the
Alpha-1 protein just before it forms into its typical long chains – also
known as polymers –
when it is much easier to
manipulate. His lab has
developed a “molecular
toolkit” from antibodies that can only recognize a
certain part of the protein, and only if that part is
properly formed. He will study the atomic structure
of the protein, note the structural changes as it begins to fold, and make different mutations of the
alpha-1 protein to find out if the long chains can be
prevented. Doing so could lead to an effective treatment for Alpha-1.
Tamir Rashid, PhD of
King’s College London
in the U.K., will study
liver cells. He will use
cells made from skin tissue donated by Alphas,
then convert them to
liver cells through genetic manipulation.
Rashid and his colleagues have studied
these cells before, but now they have a more advanced tool called “three-dimension tissue engineering.” He hopes this will make it easier to develop
new therapies for Alpha-1.
Richard Sifers, PhD of
Baylor College of Medicine has identified one
genetic defect that may
explain why the severity
of liver disease can be
extremely different in
Alphas who share the
same ZZ gene. He expects that more such genetic differences will be
discovered. Sifers plans to identify the biological
processes that are altered by different kinds of mutations. He says this process will help make “personalized medicine” a widespread reality.
Chris Sullivan, PhD of
the University of Texas
at Austin has developed
tools to understand how
the new class of gene
products called “microRNAs” affect disease.
Preliminary studies have
found evidence that microRNAs affect alpha-1
protein. Sullivan will
test possible genetic differences in how the body
regulates microRNA. He says these studies could
lead to better treatment for Alphas.
1.877.2.CURE.A1 (228.7321)
T
he 5th Alpha-1 Global Patient Congress
and 2nd Biennial Research Conference
on Alpha-1 Antitrypsin Deficiency drew
200 people from 26 countries to the medieval town of Barga, Italy. They heard renowned
Alpha-1 scientists, clinicians, industry partners, patients, caregivers and family members speak on the
latest research, the regulatory framework for licensing therapies for rare disease in Europe, the status of
patient registries and ways to strengthen the Alpha-1
message around the world.
The April Congress was the first organized by Alpha-1 Global, a program of the Alpha-1 Foundation
dedicated to building a collaborative
network of organizations for patients
and their families worldwide. It was
launched after the Barcelona Congress held in 2013, where attendees
decided to create a way to encourage Alpha-1 Global steering committee, from left: Karen North, Shane
communications between Alphas
Fitch, Gonny Gutierrez, Frank Willersinn, MD, Gunhil Nørhave, Mimi
around the world. Since then, a web- McPhedran, Catarina Pyrrait, John Walsh. Bianca Coimbra and Steve
Knowles are not pictured.
site has been launched as a global
platform to support the community
with digital tools and content.
Drs. Jeffrey Teckman, Matthias Griese and Jonathan
Edelman discussed the current natural history study
As they did at the 2013 Congress, attendees agreed
of adult liver disease, and future possibilities for
that Alpha-1 awareness is still the most pressing
need for their communities. Early detection and ad- treating liver disease.
vocacy, and access to improved care, especially augLaura Fregonese, of the European Medicines Agency
mentation therapy, were the major priorities,
(EMA), spoke about the scientific and regulatory
followed by the need to support an international pa- pathways for new treatments for rare diseases. Kentient registry and share useful resources within the
neth Chapman, MD, of the Canadian Registry;
global community.
Ilaria Ferrarotti, of the Italian Registry; Robert
Stockley, of the Alpha-1 International Registry
Attendees agreed to work together to achieve those
(AIR); and Charlie Strange, of the Foundation Regoals. They committed to a three-year strategy that
search Registry, discussed the current status of reincludes working on a global awareness campaign
search registries and the need for collaboration.
to develop and meet the needs of the Alpha-1 community worldwide.
To read more about the Congress and research conThe Alpha-1 Global Village was a key feature of the ference, see tinyurl.com/alpha1-global-2015.
www.alpha1.org
ALPHA LIFE
Global Alpha-1
community sets
goals, strategies
Congress, giving patients from different countries a
meeting place to ask questions and share their experiences in patient organization and advocacy.
An international research conference is held in conjunction with each global patient congress, and the
2nd Biennial International Research Conference on
Alpha-1 Antitrypsin Deficiency focused on innovative concepts in treatment of the lung and liver diseases of Alpha-1. Expert researchers guided by
Foundation Scientific Director Adam Wanner, MD,
Giuseppe Lungarella, MD (University of Siena,
Italy) and Robert Stockley, MD (University Hospital of Birmingham, UK), presented research.
Wanner summarized the research findings presented
at the Conference, noting especially that augmentation has been shown in an adequately powered trial
to slow destruction of lung tissue; alpha-1 aerosol
therapy is safe, and an efficacy trial is under way; and
two new “intelligent” biomarkers of Alpha-1 disease
are close to being validated as markers of disease progression and response to therapy.
13
For adult patients diagnosed with emphysema
due to severe alpha1-antitrypsin (AAT) deficiency
As personal as care gets
PROLASTIN®-C (alpha1-proteinase inhibitor [human]): The #1-prescribed augmentation therapy every year for over 25 years1
s >3 millioninfusions worldwide1
s15-minute average infusion time at the recommended
rate of 0.08 mL/kg/min2
PROLASTIN C
sWell-established safety profile2
— Because PROLASTIN-C is made from human plasma,
it may carry a risk of transmitting infectious agents, eg,
viruses and, theoretically, the Creutzfeldt-Jakob disease
(CJD) agent
sPROLASTIN-C is available ONLY through the PROLASTIN
DIRECT® program, offering comprehensive, personalized
alpha-1 support for patients and physicians and their practices
Important Safety Information
PROLASTIN®-C (alpha1-proteinase inhibitor [human]) is indicated for chronic
augmentation and maintenance therapy in adults with clinically evident
emphysema due to severe deficiency of alpha1-proteinase inhibitor (alpha1antitrypsin deficiency).
The effect of augmentation therapy with any alpha1-proteinase inhibitor
(alpha1-PI), including PROLASTIN-C, on pulmonary exacerbations and on
the progression of emphysema in alpha1-antitrypsin deficiency has not been
conclusively demonstrated in randomized, controlled clinical trials. Clinical
data demonstrating the long-term effects of chronic augmentation or
maintenance therapy with PROLASTIN-C are not available.
PROLASTIN-C is not indicated as therapy for lung disease in patients in
whom severe alpha1-PI deficiency has not been established.
PROLASTIN-C is contraindicated in IgA-deficient patients with antibodies
against IgA due to risk of hypersensitivity.
Hypersensitivity reactions may occur. Should evidence of hypersensitivity
reaction be observed, promptly stop infusion and begin appropriate therapy.
PROLASTIN-C may contain trace amounts of IgA. Patients with known
antibodies to IgA, which can be present in patients with selective or severe
Your Alpha-1 Partner
For more information,
call 1-800-305-7881 or visit www.prolastin.com.
IgA deficiency, have a greater risk of developing potentially severe
hypersensitivity and anaphylactic reactions. PROLASTIN-C is contraindicated
in patients with antibodies against IgA.
The most common drug-related adverse reaction observed at a rate of >5%
in subjects receiving PROLASTIN-C was upper respiratory tract infection.
The most serious adverse reaction observed during clinical trials with
PROLASTIN-C was an abdominal and extremity rash in 1 subject.
Because PROLASTIN-C is made from human plasma, it may carry a risk of
transmitting infectious agents, eg, viruses and, theoretically, the CreutzfeldtJakob disease (CJD) agent.
References: 1. Data on file, Grifols. 2. PROLASTIN®-C (alpha1-proteinase
inhibitor [human]) Prescribing Information. Grifols.
Please see brief summary of PROLASTIN-C full Prescribing
Information on adjacent page.
© 2015 Grifols. All rights reserved. PR07-0115
www.grifols.com
PROLASTIN®-C
Alpha1-Proteinase Inhibitor
(Human)
• PROLASTIN-C is not indicated as therapy for
lung disease in patients in whom severe
Alpha 1-PI deficiency has not been
established.
HIGHLIGHTS OF PRESCRIBING INFORMATION
These highlights do not include all the
information needed to use PROLASTIN®-C
(Alpha 1-Proteinase Inhibitor [Human]) safely
and effectively. See full prescribing
information for PROLASTIN-C.
PROLASTIN®-C (Alpha 1-Proteinase Inhibitor
[Human])
Lyophilized Powder for Solution for Injection
----------------CONTRAINDICATIONS-------------IgA deficient
against IgA.
patients
with
antibodies
---------WARNINGS AND PRECAUTIONS ------• IgA deficient patients with antibodies against
IgA are at greater risk of developing severe
hypersensitivity and anaphylactic reactions.
Initial U.S. Approval: 1987
• This product is made from human plasma and
may carry a risk of transmitting infectious
agents, e.g., viruses and, theoretically, the
Creutzfeldt-Jakob disease agent.
-------------INDICATIONS AND USAGE-----------
----------------ADVERSE REACTIONS--------------
PROLASTIN-C is an Alpha1-Proteinase Inhibitor
(Human) indicated for chronic augmentation
and maintenance therapy in adults with clinically
evident emphysema due to severe deficiency of
alpha1-proteinase inhibitor (Alpha1-PI).
The most common adverse reaction during
clinical trials in > 5% of subjects was upper
respiratory tract infection.
For Intravenous Use Only
PROLASTIN-C increases antigenic and
functional (anti-neutrophil elastase capacity,
ANEC) serum levels and antigenic lung epithelial
lining fluid levels of Alpha1-PI.
• The effect of augmentation therapy with any
Alpha1-PI, including PROLASTIN-C, on
pulmonary exacerbations and on the
progression of emphysema in Alpha1-PI
deficiency has not been conclusively
demonstrated in randomized, controlled
clinical trials.
• Clinical data demonstrating the long-term
effects of chronic augmentation or
maintenance therapy with PROLASTIN-C are
not available.
To report SUSPECTED ADVERSE REACTIONS,
contact Grifols Therapeutics Inc. at 1-800520-2807 or FDA at 1-800-FDA-1088 or
www.fda.gov/medwatch.
---------USE IN SPECIFIC POPULATIONS -----• Pregnancy: No human or animal data. Use
only if clearly needed.
Grifols Therapeutics Inc.
Research Triangle Park, NC 27709 USA
U.S. License No. 1871
3036437-BS
Revised: 11/2013
ALPHA LIFE
16
National Education
Conference offers
expertise, support
and networking
ttendees received an in-depth education
on everything from the basic facts of
Alpha-1 to ways of living a “mindful,”
wellness-oriented life in July at the
Alpha-1 National Education Conference in Garden
Grove, California.
More than 500 people – including nearly 200
first-time attendees – were inspired, encouraged,
and motivated by Miriam O’Day in her rousing
keynote address titled, “Educate + Engage +
Empower = ACTION.”
O’Day, the Alpha-1 Foundation’s former senior director of public policy, reminded the audience to
“never doubt the power of one.”
Her talk appeared to capture the spirit of the entire
weekend event, encouraging everyone to find their
unique role in the Alpha-1 community.
The conference celebrated a milestone anniversary
for the Foundation. In his “20 Years of Successes”
talk, John Walsh, co-founder, CEO and president
of the Foundation, reminded everyone that advances in Alpha-1 research have happened because
many people worked together to take action and
build a community.
Walsh asked, “Who has participated in Alpha-1 research?” and most people in the audience came to
their feet.
“That moment painted a picture of the collective
‘power of one’ that Miriam had established in her
speech,” Walsh said after the conference. “A community engaged is a powerful recipe for success.”
The conference offered an opportunity for members
of the Alpha-1 community to connect with each
other in a more personal way, said Karen Erickson,
the Foundation’s associate executive director of
community engagement.
A
“All year long, we give people access to speakers,
lecturers and experts via in-person and online education and webinars, but when someone has a personal issue, concern or idea, we know there is value
in peer-to-peer contact, guidance and motivation,”
Erickson said.
During the Community Engagement forum, attendees came together to meet the staff, community leaders and their peers in small groups of
people who shared similar experiences and needs.
There were groups for young adults, Alpha-1
kids, caregivers, transplant recipients and more. It
was designed to be particularly helpful to firsttime attendees.
“People came in, found their peers and chatted for
an hour and a half to two hours. They felt comfortable and connected,” Erickson said. “They took away
valuable relationships and felt a bit less alone and
ready to take in the two-day conference that followed. Those relationships are lasting, and are the
cornerstone of a person’s ability to use the education
and support that the Alpha-1 Foundation and conference provides. We take it to a new level of empowerment and, ultimately, greater engagement.”
Those conversations continued through the weekend, as the social hours brought together friends
new and old who discussed the expert-led sessions.
Attendees also established their own plans to move
forward with both their disease management and
engagement of the Alpha-1 community.
“We wanted people to leave with both information
and personal contacts, and they did,” said Erickson.
“The combination of those two is very powerful. We
will see the results of the efforts for years to come.”
MORE CONFERENCE HIGHLIGHTS
The combination of information and personal
contacts continued during “Meet the Experts”
and “Meet the Stars” sessions. Attendees were
able to ask questions, seek advice, and even have
one-on-one time with Alpha-1 physicians, researchers and speakers.
Additionally, many long-time “Alpha Docs” were
honored as “The A Team” for their 20-plus years of
involvement in Alpha-1 research and as original
Alpha-1 Clinical Resource Centers. They were applauded for their continued involvement as researchers, clinicians, and active participants in
Alpha-1 patient education conferences.
The educational sessions kicked off with the basics
of Alpha-1 Antitrypsin Deficiency — Alpha-1
1.877.2.CURE.A1 (228.7321)
Getting involved at the National Conference
At the National Conference, top row: support group leaders from around the country;
Charlie Strange, MD, gets a hug from an Alpha. Second row, Foundation Board members Sandra Douglas, left, Henry Moehring and Jennifer Jopp; the Alpha-1 physicians’
panel shares a laugh before taking questions from the audience; at left, Peg Iverson
talks about getting involved in Alpha-1 fundraisers; bottom, AlphaNet Coordinators
send a message to fellow Coordinators who couldn’t make the Conference; Jonathan
Maidment talks about walking the Appalachian Trail.
Lung 101 by Kamyar Afshar, DO, and Alpha-1
Liver 101 by Jeffrey Teckman, MD — and were
presented to standing-room-only crowds. Many
first-time attendees, caregivers and others took advantage of the opportunity to better understand
Alpha-1 from the experts.
The educational content continued to be featured in
four tracks of breakout sessions covering a wide variety of topics, including Alpha-1 research and
physician updates, disease management, access to
care and travel with oxygen, as well as raising
Alpha-1 children.
www.alpha1.org
Throughout the three days of the conference, attendees were prompted to leave their own experiences
on a banner attached to a wall, highlighting the
greatest milestones of the last 20 years. As the conference progressed, the entries changed from expressions of memories to commitments for more
engagement in the years ahead.
“The posts were incredible,” Erickson said. “The wall
became a storyboard of the success of the conference,
the successes of our community. It was a picture of the
very message delivered at the beginning of the weekend: ‘Educate + Engage + Empower = ACTION.’
17
ALPHA LIFE
The conference was the opening act of our next 20
years of success.”
FOR THOSE UNABLE TO ATTEND
In the spirit of engaging peers, attendees reached
out and lit up all forms of electronic communication – Facebook, Twitter, Instagram, text messaging – to share their experiences with fellow Alphas
across the country.
“We pushed the use of social media with both
Foundation staff and attendees,” Erickson said. “It
seemed like just about everyone I met at the conference said, ‘Oh, I wish so-and-so was here.’ Tweeting
a message or texting a photo was a way to open our
arms out to those who were unable to travel.”
In addition, the Foundation provided online live
video steaming of the Saturday general sessions, as
well as four sessions from the tracks.
“Our hope is that in the future we may be able to
have completely interactive, remote audiences,” said
Erickson. “It is vital that the entire Alpha-1 community benefits from such an incredible conference.
We want to push our reach and have the technology
necessary to engage people who can’t attend. It is
very important to us and definitely the direction in
which we are heading.”
Video recordings of conference sessions will be
available through the E-Education library on the
Foundation’s website at alpha1.org/E-Education.
– These are the doctors that the Foundation honored as “The A Team” for dedication and commitment to Alpha-1:
Alan F. Barker, MD
Mark L. Brantly, MD
Carroll E. Cross, MD
James F. Donohue, MD
Edward Eden, MD
Michael Krowka, MD*
Stephen I. Rennard, MD*
Robert A. Sandhaus, MD, PhD, FCCP
Edwin K. Silverman, MD, PhD*
James M. Stocks, MD*
James K. Stoller, MD, MS
Charlie Strange, MD
Gerard M. Turino, MD*
Mark D. Wewers, MD*
*Not in attendance at the conference
18
Anyone, anywhere can join
“Virtual Walk for Alpha-1”
You can take action and make a difference in
our community. Support the 1st Annual Virtual Walk for Alpha-1!
When? November. Where? Anywhere!
What is a virtual walk? A virtual walk is simple. Sign up and the Foundation will mail you
the official T-shirt. Then you and everyone
from everywhere can choose your own date,
time and place this November to do your
walking – or simply cheer on your friends.
The cost to register is $25 and includes a Tshirt and awareness bracelet.
You can help spread the word among family
and friends and join our team on this page:
BFCVirtualWalk2015.kintera.org/.
“Questions? Contact Angela McBride,
amcbride@alpha1.org or call (877) 228-7321,
ext. 233.
:HDUHLQ\RXURIILFH
1 ALPHA-1
FOUNDATION
How to Join our Workplace Giving Program
I
I
I
I
I
United Way: Just write “Alpha-1 Foundation” on the
“other” line of the payroll deduction form.
Combined Federal Campaign (CFC) for federal
employees: Specify code 11717 to select Alpha-1 Foundation.
Matching Gift Program: Many companies double, or
sometimes triple, your charitable contribution.
Volunteering: Companies
may offer incentives to
employees for volunteering.
Spread the Message:
Invite friends who
work for companies
that participate in
United Way or who are
federal employees to join.
Contact Linda Rodriguez at 877-228-7321, ext. 237 (toll-free),
or lrodriguez@alpha1.org
1.877.2.CURE.A1 (228.7321)
PRESENTING THE
CoPay Card Program
For GLASSIA
To learn more about this program, call 800-618-7527
Please see GLASSIA full Prescribing Information at liquidglassia.com.
You are encouraged to report negative side effects of prescription
drugs to the FDA. Visit www.fda.gov/medwatch or call 1-800-FDA-1088.
Baxalta is a trademark of Baxalta Incorporated.
Glassia is a registered trademark of Kamada Ltd., and used under license.
July 2015
USBS/341/15-0016l
FRONTIERS
20
Bringing living
wills to life
Foundation funds an app
to make living wills easier
to create and to follow
magine this scenario: A man is very
sick, in a hospital intensive care unit.
He makes out a living will, knowing
he might die. He slips into a coma.
According to his wishes, he is to be removed from
life support and allowed to die.
However, his family members want to keep him
alive. They are either unaware of or unwilling to
follow his wishes. The ICU physician — who doesn’t
know him and is besieged by his caring family —
either ignores or is unaware of the man’s living will.
The man is kept alive for weeks. After his death,
the family gets the bill: It’s more than a million
dollars.
You don’t have to imagine this scenario. It actually
happened, and happens on such a regular basis that
it has become a national issue.
The case above is similar to many handled by
bioethicist Ray Moseley PhD, Associate Professor
at the University of Florida, Program of Bioethics,
Law and Medical Professionalism. He is the
founder and first president of the Florida Bioethics
Network.
He is also the co-creator of an iPad app, called
Honor My Decisions, that makes it easy to share a
living will.
“The app is a pretty cool thing,” Moseley said. “It
gives people real control over medical decisions if
they become incapacitated. It’s all done on your
iPad. You can name a decision-maker, create a living will, name emergency contacts, and create a
legacy message. Best of all, you can easily create a
short video of yourself expressing your wishes and
asking your family and your physician to honor
them. That’s a game-changer. It’s easy to argue
I
with a piece of paper, but not so easy to ignore the
wishes of a loved one who is personally speaking to
you. And because your Honor My Decisions file is
stored in the Cloud as a simple PDF file, it is always handy, wherever you are.”
While developing the app, Moseley pondered the
words of philosopher Marshall McLuhan: The
medium is the message. Maybe, reasoned Moseley,
the medium is the problem. The solution might be
found in the way we use personal communication
and social media technology today.
“Ten years ago, I had an insight while working with
patients in clinical ethics,” Moseley said. “I realized
that advance directives were routinely ignored. At
least half are not honored in a timely way, or at all.
I wondered why?
“It occurred to me that the way advance directives
are implemented doesn’t fit the way medicine
works,” he said. “Medicine is primarily a personal
enterprise between two people: the doctor and the
patient. In an end-of-life situation, the family doctor is rarely the physician who is present. An unfamiliar physician can be more easily swayed by
threats and pleadings from family members than by
words on a piece of paper.”
In late 2012, the Alpha-1 Foundation issued a request for applications for a research grant to study
the ethical, legal and social issues of social media
and its effects on patients with Alpha-1. The Foundation’s Ethical, Legal and Social Issues Working
Group, which proposed the grant, is highly unusual
among not-for-profit foundations, Moseley says.
Moseley, with Kenneth Goodman, PhD, of the
University of Miami, sent in their application and
won the grant. Moseley’s idea was to develop an
1.877.2.CURE.A1 (228.7321)
app that would make advance
directives easier to create and
share, and more likely to be
followed by physicians and
families.
When the app was near completion, Moseley met with
John Walsh of the Foundation
to show its progress. Walsh
put Moseley in touch with
Steven Jackson to help with
developing and commercializing the app. Jackson is now
the CEO and chief revenue officer of the commercial venture, Honor My Decisions,
LLC. He has been working
with the Foundation for more
than 10 years, is a friend of
Walsh, and has his own personal reasons for believing in
Honor My Decisions.
“I realized we were doing the
right thing when my mother
died earlier this year,” Jackson said. “She had made
a living will, but when the time came and she was
in the hospital unable to communicate, the family
couldn’t find it. There were difficult decisions to be
made. I will always remember how hard that was.”
Honor My Decisions is designed to solve three
main problems that Moseley believes are major impediments to the fulfillment of living wills.
• It is often hard to find an existing advance directive when you need it most (as was the case with
Jackson and his mother).
• Family members with good intentions often disagree. They may yell or threaten to sue. This
puts the physician in a very difficult position.
• Physicians often have to act based on a document, on behalf of a patient they have never met
and can’t talk to.
“If you are a medical surrogate, you have a difficult
job,” Jackson said. “Years after the decision is made,
you may have doubts, or others might contest the
choice you made. You can always look back at the
online document and verify the decision, either for
peace of mind or for legal protection. If a doctor is
ever challenged in court, we will act as a trusted
third party.”
www.alpha1.org
The Honor My Decisions app displayed on iPad screens.
By the end of 2015, the Honor My Decisions iPad
app and service will be available free of charge to
all Alphas in the Alpha-1 Research Registry
(alphaoneregistry.org). It is now available in the
App Store, and will be available on other platforms
in the near future.
“Honor My Decisions is the ideal way for Alphas to
make it crystal clear to their family members and
medical caregivers exactly what their wishes are,”
Walsh said. “By use of this simple technology, they
can eliminate the confusion that often arises from
end-of-life care. This app will change people’s lives,
and ease one of life’s crucial decisions.”
Moseley said physicians have been overwhelmingly
positive about the app.
“The business community also gives it a thumbs-up
as a way to keep self-insured employees’ rights from
being violated,” added Jackson.
“Most people do not want aggressive treatment in
these situations,” says Moseley. “People — and the
public at large — are spending an enormous
amount of money on care that is not wanted by the
recipients. Honor My Decisions makes it easier to
create, share, and follow advance directives.”
21
Actual Alpha-1 patients
Providing support
in your journey
with Alpha-1
Zemaira CareZ (pronounced “cares”) is a unique
community of people and services focused on providing
the assistance and support you need to live with Alpha-1
and stay on your Zemaira therapy, including:
Starting Zemaira
žî*-$)" ($-
Connecting With Alphas
To learn more, visit
Maintaining Your Health
We are a proud supporter of the AlphaNet Disease
Management and Prevention Program.
ZemairaCareZ.com/journey
or call us at 1-866-ZEMAIRA
(1-866-936-2472).
Important Safety Information
Zemaira is indicated to raise the plasma level of alpha1-proteinase inhibitor (A1-PI) in patients with
A1ĥ ð$ )4)- '/ (+#4. (Ď# î /*!/#$.-$. ' 1 '*)/# !- ,0 )4*!+0'(*)-4
3 -/$*).)/# +-*"- ..$*)*! (+#4. (#1 )*/ ) ./'$.# $)'$)$'/-$'.Ď
Please see additional Important Safety Information and brief summary
of prescribing information for Zemaira on reverse side.
Zemaira is manufactured and distributed by CSL Behring LLC.
Zemaira® and CareZ® are registered trademarks of CSL Behring LLC.
©2014 CSL Behring LLC
1020 First Avenue, PO Box 61501, King of Prussia, PA 19406-0901 USA
www.CSLBehring-us.com www.Zemaira.com ZMR14-09-0058 10/2014
Important Safety Information (continued)
Zemaira may not be suitable for everyone; for example, people with known hypersensitivity to components used to make
Zemaira, those with a history of anaphylaxis or severe systemic response to A1-PI products, and those with certain IgA
ð$ )$ .Ď!4*0/#$)&)4*!/# . (4++'4/*4*0ď.&4*0-*/*-Ď
Early signs of hypersensitivity reactions to Zemaira include hives, rash, tightness of the chest, unusual breathing
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In clinical studies, the following adverse reactions were reported in at least 5% of subjects receiving Zemaira: headache,
sinusitis, upper respiratory infection, bronchitis, fatigue, increased cough, fever, injection-site bleeding, nasal symptoms,
.*- /#-*/ď).2 '' '**1 .. '.Ď
Because Zemaira is made from human blood, the risk of transmitting infectious agents, including viruses and,
/# *- /$''4ď/# ŵ- 0/5! '/ĥ
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Please see brief summary of prescribing information for Zemaira below.
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$.$/222Ď!Ď"*1Ĭ( 2/#ď*-''ûĥĂúúĥžĥûúĂĂĎ
Zemaira®, Alpha1-Proteinase Inhibitor (Human)
For Intravenous Use. Lyophilized Powder for Reconstitution.
Initial U.S. Approval: 2003
BRIEF SUMMARY OF PRESCRIBING INFORMATION
These highlights do not include all the information needed to use Zemaira
safely and effectively. See full prescribing information for Zemaira.
-----------------------------------INDICATIONS AND USAGE---------------------------------• Zemaira is an alpha1-proteinase inhibitor (A1-PI) indicated for chronic augmentation
and maintenance therapy in adults with A1-PI deficiency and clinical evidence of
emphysema.
• The effect of augmentation therapy with Zemaira or any A1-PI product on pulmonary
exacerbations and on the progression of emphysema in A1-PI deficiency has not been
demonstrated in randomized, controlled clinical studies.
• Zemaira is not indicated as therapy for lung disease patients in whom severe
A1-PI deficiency has not been established.
---------------------------------------CONTRAINDICATIONS ----------------------------------• History of anaphylaxis or severe systemic reactions to Zemaira or A1-PI protein.
• Immunoglobulin A (IgA)-deficient patients with antibodies against IgA, due to the
risk of severe hypersensitivity.
-------------------------------WARNINGS AND PRECAUTIONS------------------------------• Use caution when administering Zemaira to individuals who have experienced anaphylaxis or severe systemic reactions to another A1-PI product.
• Patients with selective or severe IgA deficiency can develop antibodies to IgA and,
therefore, have a greater risk of developing potentially severe hypersensitivity and
anaphylactic reactions. If anaphylactic or severe anaphylactoid reactions occur, discontinue the infusion immediately.
• Because Zemaira is made from human plasma, it may carry a risk of transmitting
infectious agents (e.g., viruses, and theoretically, the Creutzfeldt-Jakob disease [CJD]
agent).
-------------------------------------ADVERSE REACTIONS--------------------------------------
-------------------------------DOSAGE AND ADMINISTRATION-----------------------------For intravenous use after reconstitution only.
• The recommended weekly dose of Zemaira is 60 mg/kg body weight. Dose ranging
studies using efficacy endpoints have not been performed with Zemaira or any A1-PI
product.
• Administer at room temperature within 3 hours after reconstitution.
• Do not mix with other medicinal products. Administer through a separate dedicated
infusion line.
• Administer through a suitable 5 micron infusion filter (not supplied) at a rate of
approximately 0.08 mL/kg/min as determined by the response and comfort of the
patient.
The most common adverse reactions occurring in at least 5% of subjects receiving Zemaira
in all clinical trials were headache, sinusitis, upper respiratory infection, bronchitis, asthenia,
cough increased, fever, injection site hemorrhage, rhinitis, sore throat, and vasodilation.
To report SUSPECTED ADVERSE REACTIONS, contact CSL Behring Pharmacovigilance at 1-866-915-6958 or FDA at 1-800-FDA-1088 or www.fda.gov/medwatch.
--------------------------------USE IN SPECIFIC POPULATIONS------------------------------• Pregnancy: No human or animal data. Use only if clearly needed.
• Monitor closely the infusion rate and the patient’s clinical state, including vital signs,
throughout the infusion. Slow or stop the infusion if adverse reactions occur. If
symptoms subside promptly, the infusion may be resumed at a lower rate that is
comfortable for the patient.
------------------------------DOSAGE FORMS AND STRENGTHS----------------------------Zemaira is supplied in a single-use vial containing approximately 1000 mg of functionally
active A1-PI (the measured amount per vial is printed on the vial label and carton) as a
lyophilized powder for reconstitution with 20 mL of Sterile Water for Injection, USP.
You are encouraged to report negative side effects of prescription drugs to the FDA.
Visit www.fda.gov/medwatch or call 1-800-FDA-1088.
Based on April 2013 revision.
ALPHA KIDS
After shock
of diagnosis,
Alpha-1parents
got involved
hen Justin and Katie Tretter of New
York City had their second child three
years ago, everything seemed fine, at
first.
“There was no indication something might be
wrong,” Katie said. “We even left the hospital a day
early because things were going so well. Jonas appeared very healthy.”
W
Jonas Tretter and big sister Adelyn
But everything began to change after Jonas’ pediatrician ran a routine blood test. The results showed
an abnormality in his liver. The doctors began looking for what caused it. “I was an emotional wreck,”
Katie said. “I kept looking at Jonas and thinking he
looked perfectly healthy and normal. How could he
have something wrong with him?”
24
The doctors conducted a scan of Jonas’ liver, gall
bladder and bile ducts. He had normal bile ducts,
but his liver was inflamed from bile that was not
flowing properly to help digest fats. The specialists
were not really sure what to do next, and that made
it extra hard on Justin and Katie.
“We were both pretty scared and in shock,” said
Justin. “It was a rough time with a lot of praying.
That was when I pushed them to look for other
things and asked for more diagnostic testing of
Jonas.” Justin is a doctor – a pediatric cardiologist –
and this undoubtedly helped him to raise the right
questions. “There was no good reason why his liver
was sick,” he noted. “There had to be something
else that could be causing his liver problem.”
There was. Additional testing determined that
Jonas had Alpha-1.
“We didn’t have a history of Alpha-1 in our families,” Justin said. “I had learned about Alpha-1 in
medical school and how it caused lung issues in
nonsmokers, but even specialists often don’t know
to look for Alpha-1 as a cause of liver issues. It was
shocking to get Jonas’ diagnosis, but then I began
reading all of the available research, which basically
said there isn’t much you can do to help a baby
with Alpha-1 liver issues. I kept seeing Jeffrey
Teckman’s name in the research, so I decided to
contact him.”
When Teckman answered the phone, he was at a
restaurant having dinner with his family, but he
took time to answer the Tretters’ questions.
“He told us about giving vitamins A, D, E, and K
to Jonas and avoiding foods harmful to the liver like
trans fats,” Katie said. “As a breast-feeding mom, it
meant I didn’t eat those foods, either.”
Justin added: “It meant so much that he took time
out of his personal life to help us. We learned about
the Alpha-1 Foundation’s programs and the Childhood Liver Disease Research Network (ChiLDReN), which is currently studying Alpha-1 in
children and young adults. We enrolled in the
study.”
The family also contacted the Foundation, and then
attended a national education conference so they
could learn more about Alpha-1.
“We went to Washington, DC and met other
families,” Katie said. “We came away feeling much
better.”
1.877.2.CURE.A1 (228.7321)
Justin and Katie Tretter with their children Jonas and Adelyn.
Jonas’ liver normalized by the time he was three
months old, but Justin and Katie both recognized
that Alpha-1 is different for each person. As a result
of Jonas’ diagnosis, Katie, Justin, and their daughter Adelyn were also tested for Alpha-1.
“For parents of Alpha-1 kids, I think we probably
all have that fear that they will get sick again,”
Justin said. “I’m thankful for the knowledge that
Jonas has Alpha-1, though, because there are things
we can do to help him. As he grows up, we can
teach him prevention – to never smoke, to avoid
things that are harmful for the lungs and liver, and
to avoid professions that might harm his lungs.”
Katie added: “You can focus on the positive, too.
You can do little things like pray and educate yourself. Get as involved in the Foundation as you can.
Be an active fundraiser. As parents, we can’t cure
our children, but we can fundraise for a treatment
or cure. Since Jonas was diagnosed, we do the
George Washington Bridge Walk each year. In
2014, our family was the top fundraising family for
the walk. It felt good to raise money for the Foundation’s research programs.”
www.alpha1.org
Justin recently used his expertise and understanding
of the medical community to do some additional advocacy work. “I believe there should be newborn
screening for Alpha-1,” he said. “I wrote a letter to
the editor of the Journal of Pediatric Gastroenterology
and Nutrition discussing my opinion.”
He offered these words of advice for parents of Alphas:
“Advocate for yourself and your child. Educate
yourself. Go to the education conferences to hear the
research and learn things you can do as a parent to
support your child and improve your life. Seek out
medical professionals who are experts in Alpha-1.
Don’t settle for physicians who don’t know about
Alpha-1. Enroll your family in the ChiLDReN research study (childrennetwork.org). All parents of
children with Alpha-1 need to know about this important study. Knowledge is power.”
As Jonas prepares to start pre-school, the Tretters
are discussing Alpha-1 with school officials, helping
them determine what the school can do to protect
their son’s health. Meanwhile, Adelyn and Jonas are
having normal childhoods, and their parents aim to
keep it that way.
25
SUPPORT GROUP UPDATE
26
Nothing beats
face-to-face
human contact
oon after Larry Hoffman was diagnosed
with Alpha-1 in 2009, his doctor said he
might want to join a support group for
Alphas in his area.
He told his wife Marian that he didn’t want anything to do with a bunch of people “sitting around
feeling sorry for themselves.”
S
Marian and Larry Hoffman
People who’ve never been to a support group often
imagine exactly what Larry did. Such a group has
never been found in real life. “She talked me into
going and needless to say, I was blown away, he said.
“When we get together with our Alpha brothers and
sisters, it’s like family.”
Today, Larry and Marian Hoffman lead the Southeast
Keystone Alphas support group in Pennsylvania.
“Nothing comes close to seeing our Alpha friends
light up the room with their positive attitudes and
smiling faces,” Larry said. “It’s our hope to continue
bringing hope and inspiration to others.”
Other Alphas who’ve never been to a support group
might ask a question: In this time of social media
and online groups of all kinds, why should you put
up with bad weather and bad traffic to attend a real,
live support group meeting?
Barbee Bennington, the Alpha-1 Foundation’s support group and program coordinator, said, “Social
media platforms are important, and for some people
are the only available link to the outside world. But
they are no substitute for real, live human contact.”
In Miriam O’Day’s keynote talk at this year’s National Conference, she pointed to published studies
showing that all kinds of mutual support have great
benefits for the health and happiness of people with
chronic conditions:
“If you are involved in peer support, you get these
benefits: Increased life expectancy, increased medication adherence, reduced use of emergency services …
less depression, heightened self-esteem and self-efficacy, and improved quality of life.”
“Without direct human contact, people don’t get the
camaraderie, bonding and understanding that can
only come through face-to- face communication,”
said Bennington. “You can get a lot from a person
who expresses sympathy or empathy with a look,
nod, or furrowed brow. Human contact generally
means more to a person than reading ‘sorry’ or seeing
an emoticon.”
Members of a group who have similar problems often
can relate to each other like family and close friends,
and can suggest new ways
of dealing with particular
issues that are unique to
their condition.
Kim Davis in Arizona remembers walking into her
first meeting. She met
people who were going
through the same thing
she was. “I am able to
share what I am experiencing and get coping
ideas from others. That
Kim Davis
has made my life a little
bit easier,” she said.
In Florida, Frank Fiddler attends group meetings
to build camaraderie with fellow Alphas and get
new information about the condition.
“Being with people who understand what I am
going through and gaining helpful hints” is what
motivates Rebecca Holechek to attend each meeting, she said.
1.877.2.CURE.A1 (228.7321)
Alex and Pierre Villeneuve want to encourage
everyone who can to participate in a meeting in their
area. They have learned some coping skills and ideas
that have helped them in their everyday lives.
Karen Bowers is now in the Las Vegas group after
years of being on the road in her RV visiting groups
all over the country. “The scariest thing I ever felt
was to walk into a room with people on oxygen and
think that was my future,” she said. “I cannot say
enough about how attending these support group
meetings inspired me to continue to learn about this
condition and do everything possible to share my
knowledge.”
Attending support group meetings means “a sense of
belonging to something bigger” for Trisha Murray
of Idaho. “Your support group really becomes a family you can lean on,” Murray said. “Personally, I
would always choose a face-to-face group meeting,
simply because the group gives you the feeling of a
sisterhood/brotherhood with your fellow Alphas.
There, you can put a face to a name or a voice and
form a bond with people who listen, cheer you up
and cheer you on.”
Another critical element of a support group meeting
– and maybe the most important one – is the support
group leader. Without these dedicated and selfless
people who put their time, efforts, resources and love
into their groups, the Alpha-1 community would
not be able to provide the level of support and education that it does.
Debbie Labud, the Gainesville, FL support group
leader, said, “I was motived to get involved when I
went to my first national conference in Framingham,
MA. During my first support group meeting, a lady
came up to me and said she never met another Alpha.
It meant so much to me that I could help make this
happen for her. I feel if I can just help one person, I
am making a difference.”
Roger Ahlquist, leader of
the East Coast Alphas in
North Carolina, said he
stepped up when the
group needed a new leader.
“As it turns out, I have
learned a lot from my fellow Alphas and have been
able to make a positive impact by sharing my experiences and knowledge,” he
said.
Roger Ahlquist
In Utah, D.C. Young leads
his group with his wife, Claudia.
“Knowing my diagnosis was life-changing. I finally
realized that I needed to be more than involved. I
started to be committed by donating time on committees, being a voice for education, being involved
with national leadership. Then finally I volunteered
to be a support group leader.”
By taking a “leap of faith” in going to a support
group meeting near you, you may be able to open
yourself up to new opportunities for learning and understanding your health. You will have lots of support, resources, and knowledge of current
developments with Alpha-1 and in the community.
Along the way, you will very likely find people who
really know what you are going through, become
friends, and expect nothing in return but a smile or
occasional hug.
Deb Burwell, Linda Hazelbeck and Mike Dobbs at the 2015 National Conference
www.alpha1.org
27
IN YOUR INTEREST
O’Day leaves
after ‘doing
the impossible’
for 15 years
achievements for the Alpha-1 and rare disease communities. Among them:
iriam O’Day and John Walsh first met in
the late 1990s, when O’Day was vice
president of the Immune Deficiency
Foundation (IDF). They worked together
for years on blood safety issues that were critical to
both of them, since the immune deficiency and
Alpha-1 communities both depended on human
blood plasma for their therapies.
When O’Day left the
IDF in 2000, Walsh,
co-founder, president
and CEO of the
Alpha-1 Foundation,
contracted with her to
serve as the Foundation’s senior director
of public policy.
– The CMS decision that Medicare would cover
pulmonary rehabilitation.
M
O’Day resigned this
spring after nearly 15
years in the post.
Miriam O’Day
“Miriam has done the
impossible,” Walsh
said, introducing her as keynote speaker at the
Alpha-1 National Education Conference in July.
“She built a special, effective relationship called a liaison relationship with the FDA (Food and Drug
Administration) and the NHLBI (National Heart,
Lung, and Blood Institute). She engaged in an open
relationship with CMS (the Centers for Medicare
and Medicaid Services) on issues such as supplemental oxygen and access to pulmonary rehab. She’s
carried the torch for us on regulatory affairs – the
best patient advocate any community could possibly have.”
O’Day has been deeply involved in many key
28
– The 2002 “March on Washington” that both persuaded Medicare to cancel planned reimbursement cuts for augmentation therapy, and helped
to win passage of the Rare Disease Act that led to
establishment of both the Rare Lung Disease
Consortium and Cholestatic Liver Disease Consortium – both of which invest research dollars
into Alpha-1.
– The Genetic Information Nondiscrimination Act
(GINA), which bans the use of genetic information
in health insurance and employment decisions.
– The U.S. Department of Transportation ruling
that required all airlines operating in the U.S. to
allow passengers to take approved portable oxygen concentrators with them on the plane.
– The Patient Notification System to notify patients of any recalls of blood products they might
be using.
– O’Day pushed the idea of a Foundation magazine, which she described as “a People magazine
for Alphas.” That became this magazine,
Alpha-1-To-One, and she was our first editor.
For years, O’Day represented many organizations
besides the Foundation: they included the former
Alpha-1 Association, the COPD Foundation, the
U.S. COPD Coalition, NTM Info and Research,
and the American Association for Respiratory Care.
Effectively, she was the voice in Washington for people with lung diseases and the allied health professionals who care for them – respiratory therapists.
O’Day says the Alpha-1 community has achieved
“astounding” things. The Foundation’s investment
of more than $54 million in research and programs,
and a disease management program like AlphaNet’s,
are both “nearly unheard of in rare disease communities,” she says. She also notes that “Alphas are living longer lives” – a median of 60.3 years, 65.5 for
those who never smoked, in a recent study – compared to the 54-year average lifespans found before
the Foundation existed.
O’Day is now in the middle of creating a new life
for herself.
1.877.2.CURE.A1 (228.7321)
She has relocated from the Washington, DC area,
where she had spent her entire life, and now is living in downtown San Francisco with her “significant other,” doing what she calls “a life reboot.”
LEADING FOUNDATION ADVOCACY – The
full staff of CRD Associates, now taking over the
Alpha-1 Foundation’s advocacy strategy.
CRD WILL LEAD
FOUNDATION’S
D.C. ADVOCACY
Lyle Dennis, Johanna Gray, Erika Miller and Katie
Schubert from the government relations firm
Cavarocchi – Ruscio – Dennis Associates (CRD Associates) will now implement the Foundation's
comprehensive advocacy strategy.
CRD Associates has many years of experience working with patient advocacy groups representing
those with rare, chronic conditions. “I’ve worked
with Lyle Dennis and his team for many years,” said
O’Day, who pointed out that CRD represents the
American Association for the Study of Liver Diseases. “This is especially important to the Alpha-1
liver community. CRD is a wonderful lobbying
firm with lots of connections. They’ll do a great job
for the Foundation.”
Since coming on board in July, the CRD team has
been busy meeting with Foundation leadership to
implement an advocacy plan to increase awareness
of Alpha-1 and raise the Foundation’s profile in
Washington.
To start, they have been hard at working helping
the Foundation plan for the Food and Drug Administration's Patient-Focused Drug Development
meeting to be held on Sept. 29. In addition, they
are working to advance the Foundation's other priorities in Congress and across federal agencies. The
CRD team is looking forward to getting to know
the Alpha-1 community and working to ensure access to safe and effective treatments and improve
lives for people with Alpha-1
www.alpha1.org
GRASSROOTS LOBBYING
‘EXACTLY THE CHALLENGE
I WAS LOOKING FOR.’
Beth Pulsifer has joined the
Alpha-1 Foundation as Advocacy Manager. She will be
working under Karen Erickson to organize Alphas to do
grassroots lobbying. Pulsifer
specializes in writing about
medicine and policy in plain
language and getting average people excited about
advocacy.
Beth Pulsifer
She has worked with CRD
Associates on several “Hill Days” and on legislation
for digestive and genetic diseases. She will function
as the Foundation’s liaison to CRD.
She calls herself “a true Midwestern do-gooder” who
has worked almost exclusively for medical and social
not-for-profit organizations. When she moved to
DC, she worked for the Lobbying and Litigation office of Consumer Reports.
Pulsifer has first-hand experience with rare diseases
through her daughter, husband and son, who all had
significant medical issues. Various family members
have cancer, chronic fatigue, a bleeding disorder,
bizarre allergies and Factor V Leiden (super clotting), which caused strokes, heart attacks, and pulmonary embolism. Because her family was so
medically involved, the majority of her friends are
other medical moms and she is familiar with how
illness affects each family differently.
Between weekly doctor visits and a child who could
only attend school halftime, Pulsifer learned to talk
to doctors and reporters and read medical journals.
When the Internet came along in the early 1990s,
she started one of the first “dot-orgs” where she
“posted translations of the medicalese,” she says.
Pulsifer says she founded one not-for-profit, sat on
the boards of others, and “initiated a gene mapping
study for acid reflux before the medical community
recognized it as inherited.” She has been following
the Alpha-1 Foundation for years as a fellow member
of the Genetic Alliance and her advocacy on behalf of
the Genetic Information Nondiscrimination Act.
She has a passion for both patient perspective and
legislation and says her new position at the Foundation “is exactly the challenge I was looking for.”
29
ALPHA LIFE
30
A lesson in
easy breathing
athleen Brown had increasing trouble
keeping up with her job as an emergency
medical technician (EMT), working on a
rescue vehicle in Denver, Colorado. She
blamed it on “getting older” – at the age of 30. So
she moved on to become a teacher of advanced first
aid with the American Red Cross.
“I loved both of those jobs and it gave me an appreciation for helping other people,” she says.
Then in 1988, at the age of 33, she had to go to an
emergency room several times with bouts of bronchitis and pneumonia. After those repeated visits, a
doctor decided to take an x-ray of her lungs. The results were alarming.
Considering her age, the doctor said, her lungs were
in bad shape – even for a smoker. She was referred
to a pulmonologist who tested her and diagnosed
Alpha-1 with the ZZ genotype.
Though the pulmonologist diagnosed her properly,
he also gave Brown some horrifying – and inaccurate – predictions about her future. He said she
would certainly be on oxygen within a year and
after that, would probably only live another five.
“With two little babies and a husband to worry
about, I was so devastated and scared,” she says.
She didn’t know the doctor was mistaken. And she
had no support system: she didn’t know anyone
else with Alpha-1.
She did, however, stop smoking immediately and
began augmentation therapy once a week.
In 1995, AlphaNet was founded and Brown was
able to talk with the coordinator for her area: It was
Kay Swift, who’s still a coordinator today. “Without
her, I would have been lost. She really helped me
out a lot and gave me hope.”
Today she says, “Because I didn’t have AlphaNet
available to me when I was diagnosed, I know why
it’s so important. I never had that very necessary
support system that all Alpha-1 ‘newbies’ need.”
With her background in serving others, it’s only fit-
K
Kathleen Brown
ting that she became an AlphaNet coordinator herself. “When I moved to Morehead, KY in 2008, my
new coordinator Mike Benn suggested I apply. And
it all fell into place from there,” she says.
“My message is always one of hope and reassurance.
I want Alphas to know their health issues can be
managed, and that the diagnosis is not all doom
and gloom. When I was diagnosed, my lung function was at 40 percent. Augmentation therapy has
helped me to maintain that level for the past 25
years,” she says.
She always encourages Alphas to keep doing whatever they love, to the best of their ability.
Now 59, she lives in Morehead with her husband
Lindsey and Henry the cat. They have a daughter
and son, both carriers, grown up and living on
their own.
The Browns recently decided to leave Kentucky
and head back to her hometown Denver to be closer
to their daughter. She knows that Denver’s altitude
can make breathing more difficult for people with
lung disease. A recent trip back confirmed it: “I
couldn’t believe how much difference altitude
makes. I definitely struggled.”
Even so, she’s set to move as soon as their home in
Kentucky is sold. “I just miss my daughter way too
much,” she says.
Perhaps this is proof that easy breathing might be
less about oxygen, and more about happiness.
1.877.2.CURE.A1 (228.7321)
SUPPORT GROUP CALENDAR
Oct. 13
Portland, OR
Alpha-1 PDX
Oct. 14
Scottsdale, AZ
New York, NY
Alphazonies
NY/NJ Alphas
Oct. 17
Wood Dale, IL
Columbus, OH
Sacramento, CA
Augusta, ME
Chicagoland Alphas
Columbus, OH Alphas
Sacramento Alphas
Alpha-1 Mainers
Oct. 20
Ft. Wayne, IN
Fort Wayne Alphas
Oct. 24
San Marcos, TX
Nashville, TN
Alpharetta, GA
Statesboro, GA
Austin/ San Antonio Alphas
Music City Alphas
Central Georgia Alphas
Southeast Georgia Alphas
Oct. 26
Meridian, ID
Grand Island, NE
Idaho Alpha-1 Outreach
Central Nebraska Alphas
San Diego Alphas
Oct. 29
Edina, MN
Twin Cities Alphas
Sept. 22 Henderson, NV
Las Vegas Alphas
Oct. 31
Moore, OK
Alpha Okies
Sept. 23 Bentonville, AR
Northwest Arkansas Alphas
Nov. 1
Henderson, NV
Las Vegas Alphas
Sept. 25 Tucson, AZ
Old Pueblo Alphas
Nov. 7
Colordao Springs
Pikes Peak AlphaBeaters
Sept. 26 Richmond, VA
Gainesville, FL
Edmond, OK
Princeton, WV
Central Virginia Alphas
Gainesville Alphas
Alpha Okies
WV Better Together Alphas
Nov. 10
Portland, OR
Alpha-1 PDX
Nov. 11
Scottsdale, AZ
Alphazonies
Nov. 12
Oct. 3
Houston, TX
Meridian, ID
New Britain, CT
Bayou City Alphas
Idaho Alpha-1 Outreach
Nutmeggers
Needham, MA
Shepherdsville, KY
Wauwatosa, WI
Massachusetts Alphas
Kentucky Alphas
Alpha Pack Milwaukee Alphas
Nov. 14
Oct. 8
Wauwatosa, WI
Needham, MA
Alpha Pack Milwaukee Alphas
Massachusetts Alphas
Peoria, IL
Springfield, MO
Open Arms for Alpha-1
Show-Me Alphas
Nov. 17
Ft. Wayne, IN
Fort Wayne Alphas
Oct. 10
Birmingham, AL
Sioux Falls, SD
Indianapolis, IN
Memphis, TN
Alabama Alphas
Dakotaland Alphas
Hoosier Alphas
Blues City Alphas
Nov. 21
Rockford, IL
Monroeville, PA
Alphas of Northern Illinois
AlphaBurgherZ
Sept. 12 Shepherdsville, KY
Kansas City, MO
Auburn, WA
Peoria, IL
Kentucky Alphas
Midwest Alphas
Washington Alphas
Open Arms for Alpha-1
Sept. 15 Ft. Wayne, IN
Fort Wayne Alphas
Sept. 17 Papillion, NE
Big Red Alphas
Sept. 18 Salt Lake City, UT
Utah Alphas Plasma Center Tour
Sept. 19 Salt Lake City, UT
Pittsburgh, PA
Columbia, MD
Rockford, IL
Oaks, PA
Lubbock, TX
Fairfax, VA
Utah Alphas
AlphaBurgherZ
Maryland Alphas
Alphas of Northern Illinois
Alpha Opportunities
West Texas Alphas
Northern Virginia Alphas
Sept. 20 Carlsbad, CA
For more information about Support Group Meetings, contact Barbee Bennington, (877) 228-7321, ext. 227.
VIRTUAL SUPPORT GROUP CALLS
Timely Topics
Sept. 22
Medicare Open Enrollment – TBA
Oct. 27
Healthcare Marketplace – TBA
Alpha-1 Kids
Oct. 20
Teens and Young Adults Open Q&A – Kim Brown, Certified Genetic Counselor
Dec. 15
Liver Research Update – Jeffrey Teckman, MD
For more information about Virtual Support Group Calls, contact Alexis Artiles, (877) 228-7321, ext. 331.
Please visit the calendar at www.alpha1.org for more information
on these upcoming Support Group Meetings and events.
www.alpha1.org
31
ALPHA-1
1 FOUNDATION
NONPROFIT ORG
U.S. POSTAGE
PAID
MIAMI, FL
PERMIT # 8124
3300 Ponce de Leon Blvd. • Coral Gables, FL 33134
Calendar of Events 2015
BUILDING FRIENDS FOR A CURE EVENTS
Sept. 19
Get the Scoop on Alpha-1
Cedar Rapids, IA
Frank and Terri Loutsch
loutschfrank@imonmail.com
Sept. 25-27
Escape to the Cape Bike Trek
Cape Cod, MA
Angela McBride
amcbride@alpha1.org
Oct. 4
Step Forward for Alpha-1 Walk Mishawaka, IN
Terry Nickerson
canary.terry@live.com
Tom Corron
tcorron@live.com
Oct. 10
50s Friends for a Cure Dance
Shoemakersville, PA
Larry & Marian Hoffman
alfalfaalphagroup@gmail.com
Oct. 24
Portsmouth River Walk
Postrsmouth, OH
Amanda Holsinger
stricklyalphas@gmail.com
Nov. 7
Step Forward for Alpha-1 Walk Orlando, FL
Angela McBride
amcbride@alpha1.org
Nov.
Virtual Walk
50 States
Angela McBride
amcbride@alpha1.org
For more information about Building Friends for a Cure, contact Angela McBride, (877) 228-7321, ext. 233.
EDUCATION DAYS
Sept. 19
Cleveland, OH
Nov. 7
Orlando, FL
For more information about Education Days, contact Kim Caraballo, (877) 228-7321, ext 323.
Support Group calendar, page 31
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1.877.2.CURE.A1 (228.7321)