VEGF Deficiency
Increases ALS Risk
by Dan Stimson
A new European study supported by MDA shows that genetic deficiencies
of a growth factor protein increase the risk of developing ALS, and
that the same protein might be used to treat the disease.
 |
|
Peter
Carmeliet
|
|
About 10 percent of ALS cases have a family history — with 2
percent caused by mutations in the SOD1 gene and 8 percent caused by
mutations in other unknown genes. The remaining 90 percent are sporadic,
with no clear cause.
Analyzing about 1,900 people from Belgium, Sweden and the United Kingdom,
a team of researchers led by Peter Carmeliet of the University of Leuven
in Belgium found that certain variations in the gene for vascular endothelial
growth factor (VEGF) nearly double a person’s risk of developing ALS.
More Common Than the SOD1 Link
The researchers estimate that more cases of ALS are linked to VEGF
defects than to SOD1 defects. And in experiments on mice, they showed
that injections of VEGF protect against damage to muscle-controlling
nerve cells in the spinal cord — the same cells ravaged by ALS.
The study was published online July 6 by Nature Genetics.
VEGF promotes the growth and permeability of blood vessels, is thought
to protect the brain from low oxygen conditions (such as stroke), and
might have more direct effects on nerve cells.
The protein has been a long-standing interest of Carmeliet, a cardiovascular
expert and adjunct director of the Center for Transgene Technology &
Gene Therapy at the Flanders Interuniversity Institute for Biotechnology
in Leuven. Two years ago, in a study aimed at a better understanding
of cardiovascular development, he made the surprising discovery that
a genetic deficiency of VEGF causes an ALS-like disease in mice (see
June 2001).
The SNP Connection
Wondering if the same connection might exist in humans, he scanned
the VEGF genes of people with ALS, other neurological diseases, and
no neurological disease for single nucleotide polymorphisms (SNPs) —
single-letter changes in the DNA code that are usually harmless.
It turned out that three SNPs, all of which appear to reduce the production
of VEGF, were significantly more common in people with either sporadic
or familial ALS.
"We show that 6 percent of ALS patients might get the disease
because of the low-VEGF [variants]," Carmeliet said. "Thus,
VEGF gene variations affect more people than SOD1 mutations, the difference
being that SOD1 mutations cause the disease, while VEGF gene variations
increase susceptibility to it."
MDA Director of Research Development Sharon Hesterlee pointed out,
"These results fit nicely with a long-held theory that a genetic
predisposition sets people up for sporadic ALS, and then a ‘hit’ from
the environment provides the final trigger. They also suggest that VEGF
supplementation might be an effective treatment."
To further probe the role of VEGF in ALS, Carmeliet bred mice carrying
the VEGF gene deletion to SOD1 mutant mice; the double-mutant mice developed
more severe ALS symptoms and died earlier than either parent strain.
Therapeutic Use?
An experiment on normal mice probed VEGF’s therapeutic potential against
ALS. By clamping off blood vessels to the spinal cord during short periods,
Carmeliet gave the mice a stroke that caused them to become paralyzed.
Mice then injected with the VEGF protein largely recovered from the
procedure.
"These data … provide hope that VEGF might also be used for ALS,"
he said. "We are currently assessing the therapeutic potential
of VEGF in SOD1 mice and rats and expect to have the final results in
the very near future."
There are still unanswered questions about the role of VEGF in humans,
he noted.
Among Swedes with ALS, those who lacked the highest-risk variants of
the VEGF gene still had, on average, a 50 percent reduction in VEGF
protein compared to their unaffected spouses. This suggests "that
variations in other genes regulating VEGF protein levels might also
influence susceptibility [to ALS]," he said.
Finally, there might be a connection between Carmeliet’s findings and
reports of a high ALS incidence among U.S. Air Force personnel and commercial
airline pilots.
Some VEGF variants might hinder production of the protein when it’s
needed most — under low-oxygen conditions, such as those experienced
at high altitudes. Some researchers think pilots with those variants
might be especially susceptible to ALS.
But Carmeliet pointed out that the SNPs he studied reduce VEGF levels
even under normal oxygen conditions.
TOP 
Tune
in to the Telethon
Coming to a TV station near you — the 2003 Jerry Lewis MDA Telethon.
It starts at 9 p.m. Eastern time Aug. 31 and runs for 21½ hours.
ALS will be a focus of the Telethon, with appearances by Steven and
Jennifer Bishop, co-chairpersons of MDA’s ALS Division.
The show also will profile a Houston man who has ALS, Christopher Rice,
a 38-year-old father of three.
In addition, Stanley H. Appel, MDA Board member and director of the
Ronny and Linda Finger MDA/ALS Center at Baylor College of Medicine
in Houston, will present recent findings in ALS research, and other
experts will discuss progress in neural stem cells.
Call your local MDA office or watch local listings to find out which
MDA "Love Network" station will carry the Telethon broadcast
in your community. You can also see the Telethon online at www.mda.org.
TOP
Research Roundup
Stem Cells Might Help in Unexpected Way
A team led by Jeffrey Rothstein, co-director of the MDA/ALS Center
at Johns Hopkins University in Baltimore, has found that human stem
cells can partly reverse a disease similar to ALS in rats, apparently
without producing new nerve cells.
The scientists injected human primordial germ cells (which can morph
into any cell in the body) into the spinal cords of rats infected with
Sindbis virus, which kills motor neurons (muscle-controlling nerve cells)
connected to the rats’ hind limb muscles.
After 12 weeks, the treated rats had recovered some movement, and their
hind limbs were 40 percent stronger than those of rats that didn’t receive
stem cells.
But, though many of the injected cells had taken up residence in the
rats’ spinal cords, surprisingly few had become motor neurons. Instead,
the stem cells were releasing transforming growth factor-alpha (TGF-alpha)
and brain-derived neurotrophic factor (BDNF) — proteins that enhance
neuronal survival and growth. The researchers found that blocking these
proteins eliminated the stem cells’ beneficial effects.
The research appears in the June 15 issue of the Journal of Neuroscience.
"In some ways our results reduce stem cells to the nonglamorous
role of protein factories, but the cells still do some amazing, glamorous
things we can’t explain," Hopkins researcher Douglas Kerr said.
Some Myotrophin Study Sites Ready to Go
A third trial of Myotrophin in ALS is slated to begin this month at
U.S. centers in Arizona, Florida, Minnesota, Ohio, Michigan and Wisconsin.
This trial, sponsored by the National Institutes of Health with additional
support from the private sector, is designed to settle the question
of Myotrophin’s (IGF-1) safety and effectiveness in ALS.
For more information, contact Susan Paxton at the Mayo Medical Center
in Rochester, Minn., at (507) 284-8729 or paxton.susan@mayo.edu.
For center contact information, see www.mda.org/research/ct-alsmyotrophin.html.
Corn Belt ALS Study Open Until October
A study exploring environmental factors in ALS development in the U.S.
Corn Belt is extending the time period for participation to Oct. 1.
Naomi Bienfang at the University of Northern Iowa in Cedar Falls especially
needs people with ALS who live in Iowa, Illinois and eastern Nebraska,
but will also take people from other parts of the country.
For more information, see www.mda.org/research/ct-ALSCornBelt.html;
or contact Bienfang at (319) 273-3689 or nomeinroma@yahoo.com.
TOP
A NEW LIFE WITH
ALS
An ALS Wife’s Perspective
by Jennifer Bishop
More than 13 years ago, when I said, "I do," did I really
know what I was in for? Or for that matter, do any of us? In my concept
of marriage, it doesn’t matter.
The biggest unexpected event in our marriage was Steven’s diagnosis
with ALS in 2001. Many things have changed for us since then, but Steven
is still the same person; actually, he is an even deeper, stronger person
now than he was before he had ALS.
Losses and Gains
Initially, my greatest sense of loss was for our son, Christopher,
then not quite 3 years old. I felt incredibly sad for him that he would
have such a hard life without his father, and would miss so much of
his father’s guidance. I’m still conflicted about whether to spend time
with and take care of Steven or of Christopher. Steven says I should
pick Christopher over him, but it isn’t always that easy.
Given our situation, I think Christopher will grow up to be a more
dynamic, loving, caring, well-rounded person.
Now I don’t fight ALS, but I’ve learned to accept and embrace it. ALS
is only a part of who we are, and it has been a gift of perspective
for me.
Learning and Teaching
When Steven was working, we were fortunate enough to have one of our
dream cars, a Mercedes-Benz. After our diagnosis and a financial reevaluation,
we decided to sell the car.
A man looking to buy the car asked why we were selling it. We told
him that Steven had ALS and gave a brief explanation.
When Steven left the room the man leaned over and whispered, "Is
it contagious?" My answer was, "Of course not!" But at
that point I knew I had my work cut out for me.
If this seemingly well-to-do and intelligent man had no idea whether
ALS was contagious, then what did everyone else think about it? This
awareness of the public’s lack of knowledge was one of the main driving
forces for my MDA involvement.
Blessings and Time
I feel extremely blessed to live the life I’m living. The quality of
our time together is well worth whatever we may lose in number of years.
Recently two of my friends from high school have gone through ugly
divorces. I told them I’d rather be going through life with ALS than
the terrible situations they’re dealing with.
I’m living with my soulmate, and, because of my faith, I know that
our short time on this planet is only the tip of what is to come later.
Steven and I have healthier communication. Our mental attitude toward
each other is one of total respect for what the other feels and experiences.
We’re both adapting to physical and mental challenges every day. I
find that when I try to replace Steven’s physical strength, it only
leads to frustration, so I find people to help or I hire out as much
as possible.
Mentally I’m good. I have no reason to be depressed, because I get
to spend every day with the two most wonderful people I could imagine
spending time with — Steven and Christopher.
My biggest challenge is not planning too far into the future. We only
have today, and why not make it the best we can? I tell my friends and
family that there will be a day when I’m sad, but not today, not while
Steven is still around.
To my wonderful husband: You are my inspiration and my breath. I love
to see you with our son and how motivating you are to others with or
without ALS. This is truly your life’s calling. I’m forever indebted
to you for making me a better person.
It will be a privilege and an honor to take care of you until the bitter
end or until a treatment or cure is found. I feel this is what God put
me on this earth to do. I’ll bet many other spouses feel the same!
Steven and Jennifer Bishop of Arvada, Colo., are co-chairpersons
of the ALS Division of MDA. Join the Bishops every other Wednesday for
the PALS With Children chat at www.mda.org.
Child’s Love
for Grandfather Is Bigger Than ALS
Bigger Than the Sky — The True Love Story of Emilie and Her Grandfather,
by Helene E.D. Nichols, 130 pages, 2003, $20.99. Xlibris, (888) 795-4274, www.Xlibris.com.
In October 1994 Stephen Nichols, at the top of his tennis game, is
discovered to have ALS. Three years later, Steve and Helene, of Clifton,
Va., welcome their first grandchild. Thus begins the story of a love,
unconditional and fearless, that’s "Bigger Than the Sky."
Emilie adores her "Bapas" and from the age of 9 months learns
to nurture him and care for his needs as she watches and imitates her
grandmother, who is by all standards a "world-class caregiver."
Helene Nichols’ record of the early years of this loving, playful relationship
is full of joy and laughter, wonder and amazement.
As the child unfolds before her grandparents’ eyes, so the relationship
grows. Bapas and Emilie, with "Mamas" snapping photographs,
move steadily through life with ALS, never wavering, ever adventuring,
meeting changes and challenges together.
Each year, Emilie finds new ways to help care for Bapas. She advances
from "waving the white flag" and dabbing up grandpa’s chin
to pushing him in his power wheelchair with the might of "the Little
Engine That Could." At age 3, Emilie moves from taking medical
exams with her play veterinary kit to actually giving Bapas (then participating
in a clinical trial) an injection with the reassuring words, "Don’t
worry, this won’t hurt a bit."
ALS isn’t all that bonds these two. Steve, previously a "network
management guru," presents Emilie with her first computer at age
3. They enjoy finding and learning new programs for her, and she’s fascinated
as he progresses from one power chair to a higher-tech model, from one
communication device to another.
Emilie quickly figures out her grandfather’s eye-blinking communication
code. Later, to her delight, she’s able to strike a key on Bapas’ voice
synthesizer to hear him say over and over, "I love Emilie."
It’s a privilege to read these stories. This book is a lasting tribute
to an exceptional little girl and the extraordinary man who will always
belong to each other.
A TALE OF
TWO VENT CHOICES
by Margaret Wahl
Long-Term NIV Success
Ed White knows a lot about assisted ventilation in ALS, a disease he’s
had for 11 years. For eight years, he’s breathed with the help of a
noninvasive ventilation (NIV) system.
White, 66, with help from his wife, Linda, and hired caregivers in
his Fredericksburg, Texas, home, needs ventilation around the clock.
But, so far, he’s avoided a tracheostomy (the surgery that makes a hole
in the windpipe, or trachea, through which a tube is passed that can
be attached to a ventilator).
That may be in part because he has "moderate" involvement
of the muscles of the mouth and upper airway (bulbar dysfunction), which
makes NIV strategies more feasible. But it’s also because of his preferences,
persistence and proactive stance on the issue.
"Noninvasive ventilation is a long-term option for a certain percentage
of patients," he writes in "Observations and Reflections,"
an essay on ALS that he recently e-mailed to friends and professionals.
"And, if it’s not a long-term option, it’s an important intermediate
step where the patient and caregivers can become familiar with all the
aspects and variables of respiratory management."
White started with the advice of professionals at the MDA/ALS center
in San Antonio. But he lives an hour away from the city, and, he says,
"ALS is local." He and his local nurses and caregivers researched
ventilation strategies independently and came up with a customized program.
He uses a Respironics PLV-100 and a Pulmonetic Systems LTV950, both
volume-cycled ventilators, a more powerful type of device than the pressure
vents usually used with NIV masks and mouthpieces. During the night
he uses a Respironics BiPAP S/T-D 30, a less powerful, pressure-cycled
ventilator.
"I’m convinced that the use of the volume ventilator has contributed
significantly to the length of time I’ve been able to stay on NIV,"
White says. "In my opinion, too many neurologists are too quick
to pull the trigger in favor of a trach. This is, after all, an invasive
procedure. I’m willing to go there, but not before I have to."
White advises that anyone with ALS who’s told he or she can no longer
use NIV should get a second opinion. Without his extensive research
on the subject and his questioning of assumptions, he says, "I
don’t think I would be here today."
Trach Choice a ‘No-Brainer’
 |
|
Rita
Yorke and her dog, Huffy |
When Rita Yorke of Tempe, Ariz., learned her vital
capacity (the amount of air that can be exhaled after taking in a full
breath) had fallen from 39 percent of normal to 21 percent over the
first three months of this year, she knew something had to be done.
At that time, Yorke, 60, was using a noninvasive system with a bilevel
pressure ventilator overnight and for several hours during the day.
Her neurologist, Kumaraswamy Sivakumar, who directs the MDA/ALS center
in Phoenix, and pulmonary consultants, recommended she move to a volume
ventilator with a trach.
Changing to a more powerful ventilator while keeping an NIV interface
wasn’t discussed, Yorke says, but she doesn’t really mind. The nasal
pillows she’d used with her NIV system were "difficult to get adjusted
just right," and her head itched from the strap.
Yorke views her switch to invasive ventilation as an active, rather
than a passive, decision. As she puts it, "I’m not a passive person."
"If I had a bad heart and needed a pacemaker, I would get the
pacemaker and go on with life," she says. She feels the same way
about trach-delivered ventilation as she does about other accommodations
to her ALS, such as her power wheelchair, her adapted computer software
and widening the doorways in her home. The trach turned out to be a
"no-brainer" for her, she says.
 |
|
Yorke
uses a Pulmonetic Systems LTV 1000 laptop ventilator, which fits
on the back of her power chair. A Passy-Muir speaking valve allows
her to talk, and special software allows her to use her computer. |
She now uses a Pulmonetic Systems LTV1000 with her trach and has ordered
a 12-foot hose that will allow her to go in the swimming pool with it.
Narrow Criteria for Trach?
White’s NIV approach isn’t applicable to everyone with ALS. Even John
Bach, co-director of the MDA clinic in Newark, N.J., admits that, and
he’s among the world’s most ardent proponents of noninvasive ventilation
in neuromuscular disease. (See www.doctorbach.com.)
For Bach, severe bulbar involvement is a reason — in fact, for him,
the only reason — to perform a tracheostomy.
It’s the bulbar muscles that keep liquids and food going down the esophagus
into the stomach, while keeping air going down the trachea (windpipe)
into the lungs. Mouth muscles also help NIV users grasp certain types
of vent interfaces.
When these muscles are too weak or spastic to function properly, bypassing
the whole area by putting in a trach tube below the upper airway (see
"Speaking of Speaking") can prolong
life. Without it, anything in the mouth, including saliva, drips into
the trachea and lungs, and air taken in through the nose or mouth may
not end up in the lungs.
Broader Trach Criteria?
Other experts, however, are more willing to recommend tracheostomy
to ALS patients, feeling that the trach connections are stronger and
safer than those of NIV. Proponents believe the trach tube’s bypass
of the upper airway provides a more reliable pathway to the lungs, and
that patients may be more comfortable with a trach than with a mask
or mouthpiece 24 hours a day.
Edward Oppenheimer, a pulmonary specialist associated with the University
of California at Los Angeles who’s had many years of experience treating
ALS-related respiratory problems, thinks there’s a growing "tracheostomy
phobia" and that the negative aspects of trach tubes may have been
"overdone."
He says, "We’ve had wonderful experience over the years with tracheostomy.
It’s effective, and although you can have problems, by and large, patients
are quite stable."
Oppenheimer emphasizes that leaving the face uncovered allows a person
to use facial expression for communication. He also says that people
who work or go out in public may feel their appearance is better with
a trach than with an apparatus on the face, and adds that masks can
cause irritation and pressure injuries.
Family and Finances
"At any one time," says Joshua Benditt, a pulmonary and critical
care physician at the University of Washington Medical Center in Seattle,
no more than 5 percent of ALS patients [in the United States] have trachs."
That small percentage reflects the economic and social impacts of caring
for a paralyzed, tracheostomized person at home, he says.
"The way that I present it to [patients] is very neutral,"
Benditt says of the trach option. "I sit down with them and we
talk about it, and then we usually have a follow-up appointment with
a social worker and a nurse practitioner, often with family members
there.
"We really go through nuts and bolts, everything from what is
[tracheostomy], the procedure for insertion, what it entails in terms
of care, and also the issues of the impact on the family, the financial
and caregiver issues. In most cases, I also have them meet with a patient
who has [a trach tube] in now."
Rita Yorke’s son, Don Pollard, is the chief organizer of his mother’s
care. When the trach was planned, he called a family meeting, at which
he and his two sisters arranged for the round-the-clock care their mother
would need.
Pollard and his significant other decided to live with Yorke and provide
nighttime care, while they hired caregivers for some of the daytime
hours. A sister who lives nearby in Phoenix comes in on her days off
from her job.
Yorke’s retirement benefits from the state of Arizona have been helpful
in covering costs, though not ideal.
Managing and Adapting
Adapting to any kind of ventilation requires adjustment, especially
when a trach is involved.
Yorke has had two scares — a serious but short respiratory infection
and a mucus plug obstructing her upper airway that required a 911 call.
Pollard says they’re now revising her secretion clearance plan to incorporate
more use of the CoughAssist device and less reliance on suctioning.
Ed White uses the acronym "MALS" — "manager of ALS"
— for people with ALS and their caregivers. "I know of no other
disease that involves so many dimensions and requires such extensive
management skills to successfully cope," he writes.
"The road from neurology to pulmonology can be treacherous and
difficult to navigate. It’s full of potholes and delays."
But he’s glad to be here, and to have avoided a trach.
Yorke feels similarly about her choice.
"It’s a matter of adjustment," she says. "That’s what
this is. But when it hits you that you’re here and you really shouldn’t
be — that’s pretty emotional."
TOP
Small Study Says No Harm, Much Benefit
Comes With NIV
Noninvasive ventilation clearly helps relieve symptoms in people with
ALS, but there’s been some concern that it might hasten the decline
of respiratory muscle strength.
|
|
Yorke
uses a Pulmonetic Systems LTV 1000 laptop ventilator, which fits
on the back of her power chair. A Passy-Muir speaking valve allows
her to talk, and special software allows her to use her computer. |
However, a recent study of 22 people with ALS found that the use of
NIV coincided with a slowing of decline in vital capacity, a
measure of respiratory muscle function.
The authors of the study, conducted in the United Kingdom and published
in the July 22 issue of Neurology, also confirmed earlier reports of
an improvement in quality of life and survival with NIV use.
Despite continued decline on physical measures, scores reflecting psychological
and emotional well-being and sleep quality showed marked improvement
when participants used a bilevel positive airway pressure device (pressure
ventilator) with a mask or mouthpiece.
Participants apparently weren’t offered volume ventilators. All subjects
were offered tracheostomy ventilation as their disease progressed, but
all declined.
The investigators suggest that the best criterion for starting NIV
in ALS may be the inability to breathe except while sitting upright
or standing, a condition called orthopnea.
TOP
SPEAKING OF SPEAKING
Among the most dreaded aspects of tracheostomy in the past was its
interference with speaking. Fortunately, those days are virtually over,
and no one need fear loss of speech just because of a trach (although
severe bulbar muscle weakness can end speaking ability).
Various devices, such as the popular Passy-Muir speaking valve, can
make speech with a trach nearly normal. This valve, invented in the
1980s by David Muir, who had muscular dystrophy and a trach, has a simple,
but elegant, design.
When the trach user inhales air from the ventilator, a small, circular
valve that’s attached to the trach tube opens; when the user exhales,
the valve closes. When it closes, it prevents air from escaping out
through an exhalation valve and instead forces it upward so that it
passes over the vocal cords, allowing speech.
To allow air to move up past the trach tube to the vocal cords (see
illustration), there has to be enough room around the tube — provided
by deflating the trach’s balloon-like "cuff," if there is
one — or there has to be a hole in the upper surface of the tube (called
a fenestration).
Rita Yorke has a cuffed, fenestrated trach tube
and a Passy-Muir valve. The cuff is designed to help keep food and liquid
from sliding downward around her trach tube.
Even when it’s inflated, the fenestration allows air to move up to
her vocal cords when she exhales. "They can’t shut me up,"
she says.
TOP
Ten With ALS Honored
With MDA Personal Achievement Awards
by Tara Wood
Although the challenges posed by ALS are staggering to most, many remarkable
people persevere and even achieve anew after an ALS diagnosis.
The 10 people with ALS profiled below have done just that, and have
been selected as state recipients of the 2003 MDA Personal Achievement
Award for their efforts.
The honors are part of MDA’s national program that recognizes the personal
and professional accomplishments and community service of people with
any of the neuromuscular diseases in MDA’s program.
"The impressive achievements of these men and women demonstrate
the vital community contributions being made by people with neuromuscular
diseases across the country," MDA President & CEO Robert Ross
said. "We’re deeply gratified to honor these amazing people."
One of the 43 state award recipients will receive MDA’s 2003 National
Personal Achievement Award. The national honoree will be announced on
the Jerry Lewis MDA Telethon Aug. 31-Sept. 1.
Loris Buccola of Silverton, Oregon: Buccola is a licensed professional
counselor and also teaches undergraduate psychology courses at Mount
Angel Abbey and Seminary in St. Benedict, Ore. Buccola has maintained
his remarkable spirit and attitude, and has continued to help others
while living with ALS. Buccola, 62, and his wife, Jane, have three adult
children. He was profiled in the July 2003 issue of The MDA/ALS Newsletter.
Linda Buckner of Fayetteville, Arkansas: Before her retirement,
Buckner, 64, was an executive secretary at the University of Arkansas.
She remains a constant source of support to many people in her church
and community who are dealing with ALS or other personal challenges.
She and her husband, Jim, are an integral part of a local MDA-sponsored
ALS support group, and have three children and eight grandchildren.
Thomas French of Barnard, Vermont: French, a 42-year-old physician,
received an ALS diagnosis in 1996, just a few years into his medical
career. He’s since found a way to help others who are struggling with
ALS and other challenges by starting a company that helps Americans
obtain prescription drugs at discounted prices from Canada. French,
who is known for his personal strength and positive attitude, serves
as chairman of Two Nations Rx, and his wife, Jackie, is president. The
couple has a daughter, Lauren. He was profiled in the November 2002 issue of The MDA/ALS Newsletter.
| |
 |
Terry Golder of Hooper, Nebraska: Golder, 42, has worked as
a mechanic since 1979 at Jack’s Automotive & Machinery, a family-owned
automotive shop in Hooper. Although ALS has severely limited his ability
to speak, Golder passionately pursues his hobby of drag racing and often
travels with his wife, Chandra, and their 1-year-old son, Trevor, to
compete in races around the region. The Golders strive to network with
other people challenged by ALS and to share tips for coping.
Dr. Alan Houghton, New York Metropolitan Area: Houghton, 56,
is a medical researcher, board-certified internist and medical oncologist
at Memorial Sloan-Kettering Cancer Center and Cornell University. Although
he received an ALS diagnosis nine years ago, he’s remained an accomplished
authority in his profession and maintains an active personal life. He
and his wife, Meryl, have two sons, Colin, 19, and Sean, 16.
| |
 |
John Hunter of Litchfield, Ohio: Hunter, 40, has transformed
his experience of being denied disability benefits into a determination
to change the system for others. Hunter teamed up with a network of
family and friends and local news media, first to appeal his own denial,
then to tell his story to members of the Ohio congressional delegation
and Social Security Deputy Commissioner Martin Gerry. Hunter, who was featured
in the April 2003 issue of The MDA/ALS Newsletter, successfully
advocated changes to make eligibility for benefits automatic for people
with ALS. He and his wife, Jonna, have two children.
 |
|
Pamela Knutson of Longmont, Colorado: In her job as a nurse’s
office assistant, Knutson has provided care and comfort to students
at Ivy Stockwell Elementary in Berthoud, Colo., since 1986. Knutson,
56, also is actively involved in many aspects of her church. She has
been a loyal volunteer in local school organizations such as the parent-teachers
organization and booster clubs, especially when her own three children
were students.
| |
 |
Laurie Russell of Glyndon, Maryland: Since receiving
her ALS diagnosis in August 2000, Russell has undertaken a determined
effort to raise funds for research seeking a cure for ALS, tapping her
skills from her prior careers as a nurse and a fund raiser for a local
hospital. Russell, 57, is a volunteer leader at the MDA/ALS Center at
Johns Hopkins University and remains involved in many community and
church events and organizations. She’s married to T. Edgie Russell and
has two sons and two stepsons. Russell’s
Share the Care group was profiled in the July 2003 issue of The
MDA/ALS Newsletter.
John Willems of Lansing, Michigan: Willems, 44, is known for
his involvement with city government committees that work to improve
his community, and for his constant willingness to help others. He and
his wife, Heidi Ney, perform outreach to other families who are coping
with ALS.
Editor’s Note: The honoree for Pennsylvania, Andy Nodaros,
passed away in April from the effects of ALS at age 56. Nodaros, who
lived in Pittsburgh, was a former bodybuilder, bar owner, and finally
a tireless advocate who helped find and maintain employment for people
with cognitive disabilities. Nodaros, who was profiled in the January 2003 issue of The MDA/ALS Newsletter, had learned about
the MDA honor before his death.
Homebound
Legislation Closer to Passage
The David Jayne Homebound Amendment, which seeks to loosen restrictions
on people who receive Medicare home health care services, is closer
than ever before to becoming law. Its fate now is linked to that of
the Medicare prescription drug bill, which at press time was being hotly
debated.
Both houses of Congress have approved similar versions of homebound
reform, but they’ve attached them to two very different versions of
a Medicare prescription drug bill. If a compromise is reached on the
drug bill, it’s likely the Homebound Amendment will pass as well.
"It’s wonderful to experience a little legislative success after
a two-year battle, but this is just the first step in the process and
there’s still a ways to go," Jayne said. The Atlanta man with ALS
spearheaded the movement to reform Medicare homebound restrictions in
2001.
At present, those who receive Medicare in-home health care services
must remain in their homes except for brief absences for approved reasons.
Jayne’s group, the National Coalition to Amend the Medicare Homebound
Restriction for Americans with Significant Illness (www.amendhomeboundpolicy.homestead.com),
has managed to get reform legislation introduced but never out of committee
in the past two years.
The proposed amendment creates a two-year demonstration project in
three states, in an effort to determine whether loosening restrictions
would significantly increase Medicare costs. The project would affect
up to 15,000 people.
Other Legislation
Also of interest to families coping with ALS is the Family Caregivers
Tax Credit (S. 1214). The Senate bill would provide a $5,000 tax credit
to family caregivers or those who have caregiving expenses.
A similar bill in the House, the Long-Term Care and Retirement Security
Act (HR 2096), provides a $3,000 tax credit, and allows those with long-term
care insurance to deduct the cost of the premiums. Both bills still
are in committee.
TOP
Return to Issues
Index |
