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.
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.
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.”
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.”
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:
The University Hospital, Newark, New Jersey
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