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An
alternative to tracheostomy or “trach,” noninvasive
mechanical ventilation is helping patients who suffer
from neuromuscular disorders (NMDs) enhance their quality
of life and prevent deadly respiratory infections.
Like many 41-year-old
men, Jeff Gray is a high school graduate and has taken
some college courses. Good-looking, quick-witted, and
likable, he enjoys playing games and watching movies
on his computer, and at one time, he built a web site.
Mr. Gray has a lot in common with many middle-aged men,
except that he has Duchenne muscular dystrophy (DMD),
a neuromuscular disorder (NMD) characterized by progressive
muscle weakness and wasting. Typically, DMD patients
have a life expectancy only into the early 20s.
Mr. Gray credits his
relative longevity to some “strong-minded people”
like his mother, Arlene, whose outlook is “don’t
let things get to you.” And then there’s
Dr.
John Bach. “A lot of doctors would have trached
me a long time ago. Not only wouldn’t I have been
able to speak, but you know, trachs create many problems
for people with muscular dystrophy,” says Mr.
Gray. “To me and Dr. Bach, tracheostomy is a bad
word.”
The dreaded “trach”
that Mr. Gray refers to is a surgically created opening
in the windpipe. A tube is inserted into the opening
to create an airway. While a tracheostomy can accomplish
its purposes, it has several significant drawbacks:
the patient cannot speak or swallow normally and has
a continual need for respiratory support. The trach
tube can also be the staging ground for serious infections,
which in turn can contribute to respiratory failure,
a leading cause of death for many people with NMDs.
Maintaining adequate
pulmonary function, then, is crucial to increasing the
lifespan and quality of life of people with NMDs. That’s
where Dr. Bach, a specialist in physical medicine and
rehabilitation, comes in. Much of his life’s work
has been helping people like Mr. Gray breathe without
a tracheostomy and prevent respiratory failure. He advocates
noninvasive mechanical ventilation for his patients.
It’s a different approach than many other physicians
who treat people with NMDs take, one that is thoroughly
articulated in Dr. Bach’s eight books, more than
200 medical journal articles, and at lectures around
the world.
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Through the use of noninvasive mechanical ventilation
techniques, Jeff Gray has avoided tracheostomy and
has lived longer than many other people with Duchenne
muscular dystrophy. |
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Dr. Bach is a professor
and vice chair of physical medicine and rehabilitation
at New Jersey Medical School and medical director of
the Center for Noninvasive Mechanical Ventilation Alternatives
and Pulmonary Rehabilitation at University Hospital.
The Center’s multidisciplinary team includes rehabilitation
physicians, orthopaedists, anesthesiologists, respiratory
therapists, and speech pathologists. Many of the Center’s
patients are children with NMDs, but persons of all
ages with respiratory impairment, such as adult spinal
cord injury patients, receive treatment at the Center.
A whole host of NMDs,
including muscular dystrophies, spinal muscular atrophy
(SMA), and amyotrophic lateral sclerosis (ALS), can
impair respiratory function. It’s usually not
lung disease that’s the problem, but rather, weakened
chest and abdominal muscles. Just as an NMD patient’s
leg muscles can lose strength, the diaphragm muscles
weaken. That makes breathing and being able to cough
more difficult. Over time, the patient’s ability
to cough effectively can deteriorate to the stage where
the common cold can be life-threatening. “A person
with a neuromuscular condition usually does OK until
he catches a cold. His weakened lungs can’t produce
a cough forceful enough to expel airway secretions;
bacteria thrive; and ultimately, pneumonia develops,”
explains Dr. Bach.
Then, the following scenario
often unfolds: The patient is hospitalized in an Intensive
Care Unit, intubated (placement of a tube into the nose
or throat) to provide breathing support and suction
out the secretions, and placed on a ventilator. Intubation
is a temporary measure, but when it comes time for extubation—removal
of the tube—many doctors believe the patient cannot
breathe on his own and recommend a tracheostomy.
Dr. Bach believes there’s
a better way. It starts with regular monitoring of the
patient’s oxygen and respiration levels and, when
levels are low, administering intermittent positive
pressure ventilation (IPPV). This method provides regular
air to the patient through the nose, a mouthpiece, or
a mask that’s attached to a ventilator. Why air
rather than oxygen? “Oxygen tells the brain that
it isn’t necessary to breathe,” says Dr.
Bach. “As the person breathes less, the blood’s
carbon dioxide levels get higher and higher, and eventually,
the person can lose consciousness, stop breathing, and
go into respiratory arrest.” The
extent to which IPPV is needed varies from patient to
patient. Early on it is only needed during sleep. Some
patients eventually need supplemental air almost constantly,
but it is done in such a manner that speech, swallowing,
and physical functioning actually improve during its
use. Most patients simply have the mouthpiece set up
near their mouths, and when they feel the need, rotate
their necks and grab it for a deep breath.
Helping a person produce
a cough—whether with a special Cough-Assist machine
or by a manual Heimlich maneuver-like belly push—is
another important element of Dr. Bach’s protocol.
When the weakened lungs of people with NMDs aren’t
strong enough to produce a cough, the machine helps
them. “It works like a vacuum, pulling air and
mucous from the lungs and then quickly dropping to a
negative pressure,” says Dr. Bach. The body can’t
tell the difference between a naturally occurring cough
and one that is simulated, which means dramatically
fewer bouts of pneumonia.
“Given the equipment
we have available and with proper training by respiratory
therapists, there’s generally no reason that someone
with the capability to speak (an indication of the strength
of the bulbar muscles, which control swallowing and
speaking) should undergo tracheostomy,” believes
Dr. Bach. And yet,
despite the scientific evidence that supports noninvasive
mechanical ventilation, tracheostomy is still overwhelmingly
performed on patients with NMDs. Of 270 Muscular Dystrophy
Association-supported clinics, only five—including
the Jerry Lewis MDA Clinic at University Hospital—offer
noninvasive mechanical ventilation as an alternative
to tracheostomy, according to Dr. Bach. The specialists
who typically treat NMD patients with respiratory failure
are reluctant to look beyond their areas of expertise
for answers, he says. “Neurologists have no expertise
in respiratory management, and pulmonologists focus
primarily on lung diseases, so their solution remains
what they are most familiar with, tracheostomy.”
A core concept of noninvasive
mechanical ventilation is that it keeps patients with
NMDs healthier than those who do not use the aids and
techniques. In one of Dr. Bach’s studies of children
with spinal muscular atrophy type 1 (children who would
otherwise invariably been deceased before their second
birthdays), 52 patients had an average of 1.53 hospitalizations
a year before their third birthday. Using noninvasive
mechanical ventilation, that rate dropped to .33 hospitalizations
per year when the children were ages 3-5, and then to
an average of 1 hospitalization over the span of 20
years subsequently.
Noninvasive mechanical
ventilation has changed and improved the lives of people
like Mr. Gray. “Well, for one thing, I’m
living at home instead of an institution,” he
says. “My generation of people with muscular dystrophy
is a lot healthier than others in the past. I am considered
amazing because I have lived with muscular dystrophy
for so long, but 20 years from now, living into the
40s and even older will be the norm.”
Warning
Signs
In many cases, Dr. Bach’s
patients and their families have known since toddlerhood
that they had a NMD. It’s about that time when
parents notice that their child falls more often than
other kids, has trouble climbing steps, or has an unusual
way of walking. For other patients, the differences
don’t become apparent until the child is in middle
school or high school. And there are several NMDs with
onset in adulthood, such as ALS, also known as Lou Gehrig’s
Disease, and myasthenia gravis.
NMDs vary in terms of
cause, symptoms, complications, areas of the body they
affect, and treatment, but generally speaking, muscular
weakness is characteristic of many of them. To obtain
an accurate diagnosis, the patient often goes through
a series of examinations and tests. After taking a family
history and conducting a thorough physical exam, a pediatrician
or an internist often refers the patient to a neurologist
for further evaluation. For diagnosis and treatment,
another alternative is a multidisciplinary clinic, such
as those supported by the Muscular Dystrophy Association.
The Jerry Lewis MDA Clinic at University Hospital provides
diagnostic services and treatments for more than 40
types of neuromuscular disorders. The Newark clinic
is staffed by specialists in neurology, genetic counseling,
psychology, physical medicine, and physical and respiratory
therapy. “There are so many intricacies to NMDs
that a comprehensive approach greatly benefits the patient
and, from a practical standpoint, makes a lot of sense,”
says Dr. Bach. “We see the patient as a whole
person.”
Testing for NMDs ranges
from bloodwork to muscle biopsy to imaging. One common
blood test measures the patient’s creatine kinase
(CK) levels. This enzyme is present in healthy muscles;
however, when elevated CK levels are found in the blood,
it indicates that there has been muscle damage. A separate
blood sample may be taken for genetic testing. More
than 250 genetic defects have been identified for various
NMDs. Genetic testing may be recommended for diagnostic
purposes and because some NMDs are autosomal recessive.
That means otherwise
unaffected family members of people with NMDs could
“carry” defective genes and pass them on
to their children. Other diagnostic tests include electromyography,
which measures action potentials—electrical signals
produced by muscles and nerves—and muscle biopsy,
in which a small section of muscle is removed and analyzed.
The muscle cells of a person with Duchenne muscular
dystrophy, for example, do not contain the protein dystrophin,
while someone with Becker muscular dystrophy has some
dystrophin, but not enough to function properly.
Changing
the Outlook
Americans value physical
perfection, making it difficult for many to accept those
whose differences are externally visible. Even within
the medical community, the value of the lives of people
with NMDs is often minimized. And yet, as Dr. Bach points
out, people with NMDs can be very intelligent and enjoy
life just as much as anyone else. “The level of
disability has no impact on these patients’ love
of life. They have people who love them, and they can
be very happy,” he says. “If a disabled
patient wants to live as long and as fully as possible,
who are we to not permit them to do this because of
our judgment of their quality of that life?”
At the Jerry Lewis MDA
Clinic and the Center for Noninvasive Mechanical Ventilation
Alternatives and Pulmonary Rehabilitation at University
Hospital, other physicians and staff share Dr. Bach’s
philosophy. Elsewhere, many physicians offer little
hope to parents of infants with the most severe type
of spinal muscular atrophy, SMA I. Many patients with
milder forms of this genetic condition, which destroys
the nerves that control voluntary muscle movement, are
able to go to school and hold jobs. But infants with
SMA Type I, or Werdnig-Hoffmann disease, have difficulty
sucking, swallowing, and breathing. Without Dr. Bach’s
methods, all these patients develop respiratory failure
and are too weak to be weaned from ventilator use by
age two. All these patients also need surgery to place
a feeding tube before age two. However, they cannot
withstand the general anesthesia that the tube placement
surgery typically requires. Some doctors suggest that
parents take their SMA I babies home to die, but Dr.
Bach, Dr.
Colin Bethel, a pediatric surgeon at University
Hospital, and pediatric anesthesiologists have the training
and expertise to give an SMA I baby local anesthesia
sedation through an IV while the feeding tube is inserted.
The procedure is done safely, effectively, and, if they
choose, with parents at the bedside. Eliminating the
need for general anesthesia also greatly diminishes
any risk of respiratory complications.
Patients with NMDs can
also develop curvature of the spine, or scoliosis. Left
uncorrected, scoliosis can make it difficult for these
patients to sit. There’s a solution—corrective
surgery—but according to Dr. Bach, it’s
not widely performed on patients with NMDs. “Believe
it or not, only about 25 percent of the MDA clinics
offer their patients surgery to prevent scoliosis,”
says Dr. Bach. That’s not the case at University
Hospital, where only very rarely is there need to resort
to tracheostomy and where Dr.
Sanjeev Sabharwal and Dr.
John McKeon, pediatric orthopaedic surgeons, have
the training and experience to treat these complicated
cases.
The University Hospital
doctors treat patients with many other types of NMDs,
including those that primarily affect adults. The expertise
that Dr. Bach has accrued in noninvasive mechanical
ventilation benefits these people in one very specific
way: “Our patients,” he says, “simply
do not die from respiratory failure.”
Divine
Proof
Dr. Bach, says Mr. Gray
with a wry smile, looks like a “mad scientist,”
but to others, it’s the doctor’s zeal for
his patients and advocacy for noninvasive mechanical
ventilation that stands out. Consider a “quote”
from one of Dr. Bach’s books on the subject: “And
the Lord God formed man of the dust of the ground, and
gave him intermittent positive pressure ventilation
via nasal access, the breath of life. Genesis: Chapter
2, Verse 7.”
To arrange
for a consultation with Dr. John Bach, call (973) 972-7195.
For more
information on The Center for Noninvasive Mechanical
Ventilation Alternatives and Pulmonary Rehabilitation
visit our web site at:
http://www.theuniversityhospital.com/ventilation/
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