New ALS Gene Mapped to Chromosome 16
by Margaret Wahl
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Robert
Brown
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MDA-supported investigators Robert Brown and Diane McKenna-Yasek at
Massachusetts General Hospital in Boston, and Jonathan Haines at Vanderbilt
University Medical Center in Nashville, Tenn., were part of a group
that identified a small region of chromosome 16 that’s clearly associated
with the development of ALS and a region of chromosome 20 that may also
harbor an ALS-causing genetic change (mutation).
The group analyzed 16 families with inherited ALS in the Boston area
and one in the Chicago area. Their findings appeared, along with similar
findings by two non-U.S. groups, in the August issue of the American
Journal of Human Genetics.
Second Genetic Clue
Until a decade ago, no genes for ALS had been identified, although
it was well known that the paralyzing disease ran in some families.
Then, in 1993, MDA-supported researchers identified a gene on chromosome
21 that, when flawed, causes some 2 percent of all cases of ALS and
20 percent of clearly inherited cases. The gene flaw is inherited in
a dominant pattern, meaning that a flawed gene from one parent is enough
to cause the disorder in a son or daughter.
The identification of this chromosome 21 gene, known as SOD1, allowed
scientists to develop theories of ALS causation and to study disease
development and potential treatments in mice bred with SOD1 gene flaws.
Gene Discovery Expected
The new finding is expected to lead soon to identification of a specific
gene on chromosome 16. That discovery should also allow new discoveries
about how ALS occurs. The chromosome 16 form of ALS is also dominantly
inherited.
Christopher Shaw of Guy’s, King’s and St. Thomas’ School of Medicine
in London headed a second group, which found the same link between ALS
and the chromosome 16 region in two large, unrelated European families.
Jacqueline de Belleroche of the Imperial College in London headed a
third team, which linked the same region to ALS in a three-generation
family in the United Kingdom.
TOP 
A NEW LIFE WITH ALS
Speeding Up the Scientists
by Steven and Jennifer Bishop
With the Jerry Lewis MDA Telethon successfully completed for 2003,
we thought it would be a good time to review an event we attended this
summer. It was a fantastic example of how the funds MDA raises during
the Telethon and throughout the year are used to benefit people with
ALS.
In June we attended MDA’s conference, ALS Clinical Trials: The Challenge
of the Next Century, in Tarrytown, N.Y. We were thrilled to have this
opportunity to speak to more than 150 experts in clinical studies and
other avenues of ALS research. (See "Drugs,
Stem Cells, Trial Designs," July 2003, for a complete report
on the conference.)
When we told our MDA ALS support group that we were going to speak
to researchers, one member, then in the late stages of ALS, typed out
a message for us to share. This spirited and positive woman wrote:
"Speed ‘em up."
That was the theme of the conference and the message we shared — the
urgency of getting research findings into clinical trials and treatments
as quickly as possible — because friends and loved ones are losing the
battle.
Intense Conversation
At the first evening’s dinner, we sat with Stanley Appel, director
of the Ronny & Linda Finger MDA/ALS Center at Baylor College of
Medicine in Houston, and his wife, Joan; Jeffrey Rothstein, director
of the MDA/ALS Center at Johns Hopkins University in Baltimore; Rothstein’s
research fellow, several other doctors and a bio-statistician. We were
thrilled to hear the intense conversation buzzing around the table as
these experts discussed theories and results.
These scientists’ dedication to ALS research was unquestionable, and
the evening provided us with a renewed outlook on their ongoing efforts.
We were both deeply moved, and Jennifer tearfully thanked them all for
their support.
We attended the next morning’s session, chaired by conference co-director
Hiroshi Mitsumoto, who had invited us to New York. He’s co-director
of the Eleanor and Lou Gehrig MDA/ALS Center at Columbia University
in New York.
We were very impressed with the detail in each presentation as well
as the wide range of subjects covered. It was evident to us that the
overall goal of the event would be achieved, i.e., to advance the methods
and procedures of ALS clinical studies and to minimize or eliminate
the need to reinvent the wheel.
The afternoon session on lessons from studies in other diseases and
clinical trials was testimony to the progress MDA scientists want to
make in ALS. From our conversations and observations, we came away believing
that the conference had a profound impact on the participants. Several
scientists commented on the need for collaborative efforts among institutions
and suggested our time at the podium could encourage this theme. They
felt that adding a human element to the scientific process would be
of great value.
Personal Message
The evening dinner celebrated Lou Gehrig’s 100th birthday (June 19).
After an overview of Gehrig’s life and presentations by several researchers,
we were introduced by Victor Wright, a member of MDA’s Board of Directors.
We told our story and pleaded for all parties to work together and
share their findings, failures and successes. We told them about the
message from our friend in Denver, and emphasized that we have friends
dying from this disease.
We were honored to be invited to the conference and to share our thoughts
of appreciation, encouragement and urgency with this influential group.
We commend Dr. Mitsumoto and his co-chairman, Serge Przedborski, as
well as the other organizers, presenters and participants for the time
and energy they expended on this event.
On June 17, two days after we returned home from New York, our friend
who had urged researchers to speed up lost her battle with ALS. Her
loss was another sad reminder of how important it is to get the word
out about ALS and how many people it truly affects.
Thank you to MDA for sponsoring the conference and for trusting us
to add meaningful insight. It’s events like this that continue to provide
us with hope that there will be a treatment or cure for ALS — maybe
in time for Steven, and certainly for others who’ll be affected by this
revolting disease in the near future.
Steven and Jennifer Bishop are co-chairpersons of the ALS Division
of MDA. Steven received an ALS diagnosis in March 2001. The Bishops
live in Arvada, Colo., with their 5-year-old son, Christopher. The family
was featured on the cover of Parade on Aug. 31 and on the Telethon broadcast.
Join the Bishops every other Wednesday for the PALS With Children
chat at www.mda.org.
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Wings Over Wall Street Gets Ready to Soar
Wings Over Wall Street, an annual gala that’s raised over $2.6 million
for MDA’s ALS research program in the past two years, will be held Oct.
2 at the New York Marriott Marquis at Times Square.
For the second year, actor William Baldwin will host the cocktail reception
and auction, which benefits the research teams of Hiroshi Mitsumoto
of the Eleanor and Lou Gehrig MDA/ ALS Center at Columbia University
in New York, and Jeffrey Rothstein, director of the MDA/ALS Center at
Johns Hopkins University in Baltimore.
Three awards will be given at the gala. The Diamond Award, acknowledging
scientific contributions to ALS research, will be given to Thomas M.
Jessell, professor of biochemistry and molecular biophysics at Columbia
University, who is studying stem cells in treatment of ALS. Dr. and
Mrs. Eliot Danziger of Brookdale, N.Y., will receive the Spirit Award
for their commitment to funding a search for a cure. The event’s newest
award, the Michael P. Beier Award, honors those who go above and beyond,
and will be given to Wall Street trader Cathy Wilson Rosen of Zweig-DiMenna
Associates.
Wings Over Wall Street was started in 2001 by Toni Diamond, a former
United Airlines flight attendant with ALS, and her husband, Warren Schiffer.
It got a big boost last year when it was chaired by Michael Beier, director
of equity trading at Credit Suisse First Boston and an MDA vice president.
For information on making a donation, becoming a sponsor, buying tickets
or participating in the auction, go to the MDA’s ALS Division Web site
at http://www.als-mda.org and click
on the Wings Over Wall Street icon, or call (212) 689-9040.
TOP
ALS Research Roundup
Lab Mice Benefit From
IGF-1 Gene Transfer
Jeffrey Rothstein, a physician-investigator
who directs the MDA/ALS Center at Johns Hopkins University in Baltimore,
was part of a research team that recently found that transferring the
gene for IGF-1 into mice bred to develop ALS had considerable benefit.
IGF-1, or insulin-like growth factor 1, is a
natural protein found in animals and humans that may have protective
effects in the nervous system.
It’s been formulated as an experimental drug
(Myotrophin) and has been tested twice in clinical trials. One large-scale
trial found it had some benefit, while the other found it had no benefit.
It’s now being tested again in people with ALS.
But the experiments conducted by Rothstein and
colleagues have taken a new approach. Instead of delivering the IGF-1
protein, they’ve delivered the gene for IGF-1. And instead of delivering
the compound in subcutaneous (under the skin) injections, they inserted
it into an adeno-associated virus and then injected it directly into
muscle cells in the back legs and the rib muscles of the mice.
The mice were expected to develop ALS at about
90 days of age because they carried an ALS-causing SOD1 mutation. But
those given injections of IGF-1 genes at 60 days (prior to symptom onset)
didn’t develop the disease until, on average, 31 days later than expected.
And when they did develop symptoms, they survived
an average of 37 days longer.
Because few ALS patients ever see a doctor before
developing symptoms, the scientists also had to find out what would
happen if the mice were given the IGF-1 gene injections after symptoms developed.
Newly symptomatic mice that were 90 days old
when they received IGF-1 gene injections lived, on average, 22 days
longer than untreated mice with the same SOD1 gene mutations.
Their strength and function also lasted considerably
longer, and they had about as many motor neurons remaining in their
spinal cords at 110 days of age (20 days after their injections) as
did healthy mice, though numbers declined sharply as their ALS progressed.
The researchers believe the IGF-1 genes were
probably transported from the muscle cells, where they were injected,
up nerve fibers into the nerve cell bodies in the spinal cord, where
the cells followed the genetic instructions and made IGF-1 protein molecules.
The IGF-1 protein appears to have protected
the motor neurons in a number of ways, the researchers say. Interfering
with the cell death program (apoptosis), delaying the process
of aggregate (clump) formation, and dampening an ALS-associated immune
response in the nervous system all seem to have been involved.
According to Rothstein, scientists from Hopkins
and from the Salk Institute in La Jolla, Calif., are now in discussions
with regulatory agencies and pharmaceutical companies so that IGF-1
genetic material can be delivered as a drug and mandatory safety studies
outlined by the Food and Drug Administration can be conducted.
"This process should take about a year,"
Rothstein said, "at which point, if all goes as planned, the first
clinical trial of this treatment could begin."
Human Umbilical Cord
Blood Cells Help Mice With ALS
A study in the June issue of the Journal of
Hematotherapy & Stem Cell Research has found that mice with ALS
that received transfusions of human cells isolated from umbilical cord
blood showed delayed progression of their disease and extended survival
time.
Investigators Paul Sanberg and Svitlana Garbuzova-Davis
at the Center for Aging and Brain Repair at the University of South
Florida in Tampa led a multidisciplinary team which found that mice
given the human cells remained mobile until 19 weeks of age, in contrast
to untreated mice, which typically lost mobility rapidly beginning at
about 13 weeks.
In addition, the mice that received the cord
blood cells survived an average of 17 weeks, while the untreated mice
lived an average of 14 weeks.
Cells taken from umbilical cord blood are considered
a type of stem cell, with the ability to mature into a variety of human
cell types.
The investigators in this study aren’t sure
of the mechanisms by which these cord blood cells helped the ALS-affected
mice. Among the possibilities are that the stem cells became motor neurons,
the muscle-controlling nerve cells that are lost in ALS; that the stem
cells became supportive cells that helped prolong the life of the motor
neurons; or that the transfused cells changed the behavior of the immune
system in such a way that disease progression was slowed.
They suspect the second two mechanisms were
larger contributors than the first, since relatively few cells appear
to have developed into motor neurons.
MDA is working with Sanberg’s group and others
to plan future studies of umbilical cord blood cell transfusion in ALS
patients.
Minority of
Long-Term ALS Survivors Lose Communication Ability
"The expectation that all patients with
ALS using TPPV [tracheostomy positive-pressure ventilation] will ultimately
develop the locked-in state [total inability to communicate] is not
supported," say physicians Hideaki Hayashi of the Tokyo Metropolitan
Neurological Hospital and Edward Oppenheimer of the University of California
at Los Angeles School of Medicine in their recent study.
In a report published in the July 8 issue of
Neurology, the doctors analyzed the communication abilities of 70 people
with ALS receiving tracheostomy ventilation between 1980 and 1999 in
Japan. They found that only eight of them (11 percent) lost all ability
to communicate and developed a "totally locked-in" state,
in which they can’t communicate either by speaking, by movement or with
assistive devices. Six of those eight were among those who survived
more than five years on ventilation.
The remaining 62 people (89 percent of the original
70) didn’t lose all ability to communicate, though many had impaired
communication.
The authors recommend that people with ALS and
their physicians consider long-term assisted ventilation without worrying
that it will necessarily lead to a prolonged life without social contact.
They also recommend that people considering TPPV decide in advance under
what circumstances they want to discontinue ventilation (advance directives)
and that they investigate assistive communication technology in advance.
TOP
Bertrand Fights ALS by Being Himself
by Kathy Wechsler
William Bertrand Jr. sports a winning attitude in the face of his deteriorating
limb function and loss of mobility caused by ALS.
THE BEST MEDICINE
"Laughter is the only drug that works on ALS, and it’s free. What
a bargain," said Bertrand, a West Warwick, R.I. resident, who uses
humor to overcome his many challenges.
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Yiota
and Bill Bertrand |
Bertrand, 59, and his wife, Yiota, whom he met and married in Athens,
Greece, where he was stationed with the U.S. Air Force, often get together
with other people with ALS, where his bright outlook and sense of humor
are greatly appreciated.
"I try to bring a little humor to anyone who might be a little
depressed," he said. "Depression is a no-no with this disease."
Bertrand, who was found to have primary lateral sclerosis in January
1995 and was told in 2000 that his disease had progressed into ALS,
has only partial use of his arms and hands and is unable to use his
legs. He has trouble swallowing and can’t speak or chew food.
"Other than that, I feel great," joked Bertrand, who communicates
with a LightWRITER device and through e-mail.
FAMILY AND FRIENDS
"I think my disease has affected my wife more than it has affected
me," Bertrand said. "It is her that has to care for all my
needs and all the work that I used to do." Bertrand and Yiota have
two grown daughters, both graduates of Rhode Island College, who travel
from other states to assist their father on the weekends.
Bertrand has many fond memories of the Providence, R.I., Post Office,
where he worked in accounting for 12 years. Before retiring in 1999
because of the effects of his disease, he joked around with his co-workers
to keep up his spirits.
"They would take off one of my wheelchair wheels if I said something
bad about their beloved Boston Red Sox, and leave me immobile,"
Bertrand said. "They made me laugh so much, and I was sorry to
have to leave them."
Before ALS, Bertrand enjoyed bowling, tennis, running and photography.
Though devastated that he isn’t able to hold a camera anymore, he’s
found other activities in which he can take part.
Besides using his keen sense of humor to make people laugh, Bertrand
loves to read and watch sports on television. Because he fatigues easily,
his "outdoor activities are limited to an occasional movie and
a trip to the bookstore."
After retiring, Bertrand began writing humorous poetry as a way to
occupy his time. See his "ALS Is for the
Birds" below.
MDA MAKES LIFE A LITTLE EASIER
"MDA has helped us greatly with expensive equipment," Bertrand
said. MDA helped to pay for his wheelchair and LightWRITER. MDA also
pays for wheelchair repairs.
Bertrand uses a lift to transfer from chair to bed. "It was donated
to us by a very dear friend of ours whose husband passed away from ALS
last year," he said. "My wife will pass it on also."
Excited to be interviewed for a piece on the local broadcast of this
year’s MDA Telethon, Bertrand exclaimed, "My wife and I have always
loved Jerry Lewis, and I probably owe my positive attitude and sense
of humor to Jerry Lewis."
Bertrand has handed out ALS awareness information for MDA and wants
to do anything to help the Association because of all it has done for
his family.
ALS IS FOR THE BIRDS
by William Bertrand Jr.
I remember the days when I was able to pump my arms and my legs,
as I cut through the wind, running road races. I felt like a (Beep!
Beep!) "ROADRUNNER." But that was before ALS began "ROBIN"
me of the use of my limbs and now has made it difficult for me to chew
and "SWALLOW" my food.
When I found out that I had ALS, it would have been easy for me
to say, Well, my "GOOSE" is cooked. I could have walked around
with my head down, as if I had an "ALBATROSS" tied around
my neck. I could have gone stark "RAVEN" mad.
However, that is not my style. I do not walk away from a fight and
have no plans to "DUCK" this one either. After all, I am still
happy as a "LARK," as mischievous as Heckel and Jeckel, those
forever-in-trouble "MAGPIES," and as feisty as a "ROOSTER"
in a "HEN" house.
A wise old "OWL" once said, It’s not about the amount
of time you spend living, it’s about what you do and accomplish with
that time.
I can still enjoy nature in all its splendor. Watch the "CARDINALS,"
"GOLDFINCHES" and "CHICKADEES" as they come to my
backyard feeder. Yiota and I will remain "BLUEBIRDS" of happiness
till the day that we die.
Who knows, in the afterlife, maybe I will regain the use of my arms
and legs, feel the wind in my face, and, once again, feel like a (BEEP!
BEEP!) "ROADRUNNER."
Regaining the Simple Pleasure of Regularity
by Christina Medvescek
It’s a subject that lends itself easily to jokes, but when it happens
to you, it’s no laughing matter. Constipation is a real pain in the
you-know-what.
Constipation is defined not by how frequently you move your bowels,
but by whether the stools are hard, dry and difficult to pass. It’s
not necessary to have a daily bowel movement. If you’re only going every
couple of days, but can complete the task without straining, then you’re
not constipated.
Does ALS Cause Constipation?
Although not a symptom of the disease, constipation is a common side
effect of ALS for several reasons, says Diane Huberty of Fort Wayne,
Ind., a retired neuroscience nurse who has ALS.
• Decreased movement: Inactivity slows down peristalsis — the
smooth muscle contractions that move waste through the intestines. "Anything
that changes the speed with which foods move through the large intestine
causes problems," Huberty says. The longer waste sits, the more
water it loses to body absorption and the harder it becomes. This problem
is further aggravated if you don’t go when you feel the urge, perhaps
because you’re waiting for assistance or to use your home toilet.
• Swallowing problems: To prevent choking, many people don’t
eat nutritiously or drink enough liquids, both of which make stools
harder. People with ALS sometimes drink less to minimize their bathroom
visits as well.
• Muscle weakness: As respiratory, chest and stomach muscles
weaken, it becomes difficult to "take a deep breath and bear down,
something we don’t even realize is important in having a bowel movement
until we cannot do it," Huberty says.
Diet, routine, position and laxatives are the best ways to keep things
moving
smoothly.
Diet Is the First Defense
Fiber and fluids are the key ingredients in an anti-constipation diet,
but they must be taken together.
Fiber is simply indigestible bulk that absorbs water in the colon (helping
waste product stay softer) and fattens up the stool (helping stimulate
involuntary muscles to move it along). Obviously, fiber can’t do its
job if there isn’t enough fluid present; in fact, it can be counterproductive.
Gentle dietary fiber can be found in raw fruits and vegetable like
apples, strawberries, lettuce and celery. Because this type of fiber
is at least partially digestible, it has a mild effect on peristalsis.
The fiber found in bran, seeds or high-fiber cereal or bars is completely
indigestible, and so acts more vigorously. Without adequate fluid, this
type of fiber can become cementlike and cause additional constipation.
When muscle weakness is severe, this type also can make the stools too
bulky to pass.
If swallowing problems make it hard to drink enough fluid, consider
thickening your drinks into slushes or milkshakes, or using a no-taste
thickener such as Thick-It. Many natural sources of fiber, such as fresh
fruits, already contain fluid, so you get both at once.
The same dietary principles — fiber and fluids — also apply in tube
feeding. Check with your doctor about using a high-fiber formula.
A Good Routine, A Good Position
The body is a creature of habit, so if you can get used to going at
a certain time, you increase your chances of regular success.
Greg Carter, co-director of the MDA/ALS Center at the University of
Washington Medical Center in Seattle, suggests these steps for creating
a reliable bowel routine:
1. Pick a time of day and stick with it. Peristalsis is naturally stimulated
about 20 to 45 minutes after a light meal, and is usually strongest
after breakfast (although lunch and dinner work as well). Choose a time
when you’ll have at least 15 uninterrupted minutes on the commode.
2. Drink a hot beverage, preferably with caffeine, to stimulate your
bowels.
3. Get on the toilet and insert a Dulcolax suppository, then lightly
circle the skin around the anus (on the outside) to trigger the colon
to move.
In chronic constipation, the colon may have become distended and lost
muscle tone. It can take up to six weeks to establish a normal bowel
routine in this case, so be patient.
Position on the toilet is also important. Sitting upright, especially
with your feet off the floor, does little to help with elimination.
Squatting is better. This position opens up the muscles of the pelvic
area, angles the bottom for the best mechanical advantage, braces abdominal
muscles and pushes the thighs into the abdomen to provide extra force.
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A squatting position, with the body
leaning forward and feet resting off the ground, is best for
moving the bowels.
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To achieve a reasonable and safe squat on the toilet, rest your feet
on a footrest that’s about a foot off the ground, such as a stool or
walker rung, then lean forward. For additional force, hug a pillow to
your abdomen. If you use a hygiene or toileting sling that holds you
over the toilet, ensure that your buttocks are the lowest part of your
body. This position usually results in a bowel movement in about one-tenth
the time required when lying down and using a bedpan.
Lowdown on Laxatives
Basically, there are three kinds of laxatives:
• Bulk or fiber laxatives, such as Metamucil or Citrucel, are
essentially a concentrated form of dietary fiber.
• Stool softeners, like Colace, keep water content high or lubricate
the stools.
• Stimulants, such as Senokot, increase involuntary muscle contractions,
moving the stool along quickly.
People with ALS should exercise caution with bulk or fiber laxatives,
especially if swallowing is difficult. Without adequate fluid intake,
fiber laxatives can swell up in the throat, esophagus or intestine,
creating a dangerous blockage. They also can gum up a feeding tube unless
adequately flushed with water. Follow package directions carefully.
Carter recommends a daily capful of MiraLax (available by prescription)
in eight ounces of water. This strong "osmotic" laxative pulls
water into the intestines and helps soften stool.
Tahseen Mozaffar, co-director of the MDA/ALS Center at the University
of California at Irvine, says that when adding fiber doesn’t do the
trick, he may prescribe Mestinon, a drug used to relieve muscle fatigue
in ALS patients. A common side effect of Mestinon is increased bowel
movements, "which works fine with people who are constipated,"
he says.
Stimulant laxatives, while working quickly, can result in dependence
if overused — in other words, you can’t go without them. But if nothing
else will keep you regular, this may be your best option, so consult
your doctor.
Carter says he’s heard positive reports about an herbal stimulant laxative
tea called Smooth Move (made by Traditional Medicinals and available
in health food stores or online). Patients report using it on a weekly
or monthly basis with good results.
Mineral oil and enemas should be used only occasionally. Mineral oil
can interfere with the absorption of some vitamins, and enemas distend
the bowel, which can eventually cause loss of bowel tone.
One final tip: "Comfort is important in order to concentrate on
the job at hand," says Huberty, noting that shrunken buttocks muscles
can get sore on a hard seat. Her padded toilet seat has been "a
real lifesaver!"
TOP
Photographer’s Work Featured in Quest
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Angelo Sciulli and physical therapist
Trish Koplas of the MDA/ALS Center at Carolinas Medical Center
in Charlotte, N.C.
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Be sure to check out the September-October issue of MDA’s magazine,
Quest. The cover and a feature story present photographs taken by Angelo
Sciulli of Lancaster, S.C., a nature and wildlife photographer who’s
affected by ALS.
Sciulli’s article, "Seeing
Is Believing," recounts his trip last year to the Galapagos
Islands and contains several photographs of animals on the islands.
Sciulli’s photographs can be seen at the MDA/ALS Center at Carolinas
Medical Center in Charlotte, N.C., and at www.scnature.com.
His photos from Kenya, British Columbia, Alaska and other locations
have been widely published in prestigious magazines. Sciulli now publishes
and exhibits his photographs only to raise awareness of ALS and disabilities.
TOP
Social Security Changes Rules to Benefit Applicants
With ALS
by Christina Medvescek
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John Hunter, speaking at an MDA meeting
(top), helped pass a Social Security rule change that grants
automatic disability benefits to unemployed people with ALS.
Hunter is shown below with former Cleveland Indians pitcher
and Hall of Famer Bob Feller, at an event to raise ALS awareness.
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It’s now much easier for a person with ALS to get Social Security Disability
Insurance (SSDI) benefits, thanks in part to a push by an Ohio man with
ALS, John Hunter.
Social Security Administration (SSA) Commissioner Jo Anne Barnhart
recently changed SSDI eligibility regulations in order to automatically
grant disability status to anyone who isn’t working and has received
an ALS diagnosis. Although applicants still must wait five months before
receiving their first checks, this new "presumptive eligibility"
ruling guarantees they won’t be turned down for benefits.
The Office of Management and Budget must approve the rule before it
takes effect; approval is expected by late October, said Mark Hinkle,
SSA spokesperson.
"Before we made this rule change, we were approving more than
90 percent of applicants with ALS at the initial level, but this will
close the gap for the rest," Hinkle said.
Claimants with ALS sometimes were initially denied because they weren’t
"disabled enough yet" to qualify. That’s what happened to
John Hunter, 40, of Litchfield, Ohio.
Although his rapidly progressing ALS had disabled his arms and hands,
he was turned down for SSDI because he was still walking at the time
of his application in 2002. A scathing local TV news story about Hunter’s
situation resulted in an abrupt reversal and approval by the SSA office.
Angered that SSA had been playing with time he didn’t have to waste,
Hunter teamed up with local TV reporter Duane Pohlman and traveled to
Washington to advocate for a change in the eligibility process for all
people with ALS. Hunter and his wife, Jonna, spoke to members of the
Ohio congressional delegation as well as SSA Deputy Commissioner Martin
Gerry.
"We’re very excited to hear that this change has happened,"
said Hunter, who is recovering from a broken shoulder caused by a fall.
"It’s an overwhelming feeling."
Hinkle said the rule change follows up on legislation passed in 2001
eliminating the Medicare waiting period for SSDI recipients with ALS.
Although the new rule is unofficially being called the "John Hunter
Rule," Hinkle noted that SSA doesn’t "name our regulations.
"But his situation certainly illustrated that we could do more
to help people, and that’s why we did it."
TOP
Medicare Covers Cough
Device
In July, the J.H. Emerson Co., makers of CoughAssist, announced Medicare’s
adoption of a national coverage policy for this device, which helps
people with failing respiratory muscles to clear secretions. This new
policy applies to people with an ineffective cough due to ALS and other
neuromuscular disorders involving weakness of the respiratory muscles.
Using HCPCS code E0482, "cough-simulating device, alternate positive
and negative pressure," will make it easier to obtain Medicare
reimbursement for the CoughAssist. For further details, contact J.H.
Emerson at (800) 252-1414, or visit www.jhemerson.com.
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