OUTCOMES:
Amyotrophic Lateral Sclerosis (ALS)

(Lou Gehrig's Disease)

 

BACKGROUND

 

Amyotrophic lateral sclerosis (ALS) is an example of motor neuron disease (MND).

 

Although motor neuron disease usually starts in the 50s and almost never occurs before 19 years of age, we have had one boy with rapidly progressive ALS at age 11. He used continuous noninvasive ventilatory support (CNVS) for over one year despite having no skeletal and respiratory muscle function. Conventionally, people with ALS have either limb muscle weakness or throat muscle dysfunction. The throat muscles are "bulbar-innervated," and dysfunction is known as bulbar-innervated muscle dysfunction or BIMD. BIMD eventually develops for all patients.

 

Having BIMD does not prevent successful noninvasive respiratory management. However, for some, its upper motor neuron component will:

 

~~~

 

"There are people with no bulbar-innervated function other than eye movement, and they use CNVS to avoid the need for tracheostomy tubes."

-Dr. John R. Bach, MD

 

~~~

 

Eventually, BIMD causes patients to:

  • Lose verbal communication

  • Lose the ability to swallow

  • Have acute respiratory failure from aspiration of food and upper airway secretions

  • Possibly have stridorous breathing.

 

Stridorous breathing suggests that there may be severe airway collapsibility during inspiration, expiration, or both. Stridorous breathing suggests that MIE may be less effective (low expiratory cough flows <100 L/minute). Some researchers have reported that it may be possible to relieve breathing stridor and loss of measurable cough flows, which are associated with upper airway collapse, by using botulinum toxin (ALS1).

 

The glottis is the opening between the vocal cords. When people with advanced BIMD are unable to close/control the glottis to air stack, 4 to 5 cm H2O of negative pressure applied to the airway during expiration may be beneficial.

 

Generally, volume-preset ventilation is preferred, since it allows people to air stack. However, since people with advanced BIMD cannot air stack, pressure-preset ventilation or bi-level positive airway pressure (bi-level PAP) are feasible alternatives.

 

Eventually, airway collapse can render MIE useless. This occurs when control of glottis closure is lost. The maximum-insufflation-capacity-minus-vital-capacity difference becomes zero (MIC-minus-VC becomes 0 mL).

 

For people unable to use MIE effectively and for those with little or no voluntary cough flows, the reflex cough can clear airway secretions to some degree, but it is rarely sufficient to avoid intercurrent episodes of serious breathing problems (i.e. respiratory failure). In this case, tracheotomy may maintain survival. Tracheotomy is necessary only when the oxygen saturation baseline decreases and definitively remains below 95% despite optimal access to NVS and MIE. Tracheotomy should be accompanied by laryngeal diversion.

 

Laryngeal Diversion

\lə-ˈrin-jəl də-ˈvər-zhən\

Surgical closure of the larynx, so that the patient can take food by mouth again. When the swallow reflex is triggered, the food goes into the stomach.

 

If the person has good bulbar muscle function, then he or she can speak and swallow even if vital capacity (VC) is less than 100 mL and there is no breathing tolerance. Despite having minimal VC:

 

Physicians are not conventionally trained in:

  • Noninvasive respiratory management

  • Glossopharyngeal breathing

  • Lung volume recruitment (LVR)

  • Assisted cough

  • Mechanical insufflation-exsufflation

  • Other techniques of noninvasive respiratory management.

 

Thus, tracheostomy tubes are often placed for patients with serious breathing problems (i.e. acute respiratory failure) that arise from chest infections. Tracheostomy tubes are recommend when sleep-only low-span bi-level PAP is no longer sufficient. However, tracheostomy tubes are unnecessary.

 

Gastrostomy

\ga-ˈsträs-tə-mē\

The surgical opening through the abdomen into the stomach that allows for direct feeding into the stomach.

 

Gastrostomy is often prematurely recommended because clinicians unfamiliar with noninvasive respiratory management believe that postponing gastrostomy may increase risk of the percutaneous endoscopic gastrostomy (“PEG”) procedure. In fact, even patients with 0 mL of VC can be extubated to noninvasive ventilatory support. Further, there are other gastrostomy procedures that do not require intubation. Refer to JBCVBook7 as well as JBCVChapter115JBCV196, and JBCV200 for discussion of gastrostomy, nutrition, saliva management, emotional issues, and more.

 

 

OUTCOMES OF CONVENTIONAL MANAGEMENT

 

Conventionally, people with ALS are told that:

  • ALS is an incurable disease

  • They have 15 to 18 months to live.

 

However, it is little-known that, on rare occasions (ALS2):

  • People with advanced ALS can recover completely without any treatment

  • Disease progression can slow to a standstill

  • Some muscles can improve in strength as others weaken.

 

Often, unnecessary polysomnography is performed (see Most Common Mistakes). Polysomnography interprets abnormalities as resulting from:

1. Central events (i.e. absence of central nervous stimulation arising from the brain)

2. Obstructive events (i.e. throat collapse).

 

However, it fails to interpret abnormalities of breathing muscle weakness, as in ALS. Furthermore, carbon dioxide concentration in the blood is not routinely measured during polysomnography. As a result, unnecessary polysomnography results in patients being inappropriately treated with:

 

PITFALLS OF LOW-SPAN BI-LEVEL PAP:

 

Low-span bi-level PAP is defined as:

Inspiratory PAP - Expiratory PAP < 10 cm H2O

 

Low span bi-level PAP prolongs life by a few months via:

  • A slight increase in delivered pressure

  • Minimal assistance with breathing

  • Minimal increase in extra air to slightly improve cough.

 

People with ALS do not need bi-level PAP or NVS when they are asymptomatic. However, conventional management introduces people with ALS to ventilatory assistance once their vital capacity (VC) decreases below 50% of normal. A guideline of 50% is not a substitute for treating a patient’s symptoms. We have ALS patients with VC at 90% of normal, who are CNVS-dependent, and others with VC at 6% of normal (300 mL), who maintained normal PaCO2 and were asymptomatic without any ventilator use. We mention this caveat in conventional management because we have seen patients suffer from inappropriate use of bi-level PAP at spans of IPAP 23, EPAP 19 and IPAP 19, EPAP 17 cm H2O on the basis of polysomnography results.

 

People can have a VC of 0 mL and use CNVS for over 50 years and never require tracheostomy tubes.

 

Once people with ALS begin low-span bi-level PAP, they will:

  • Continue to weaken

  • Eventually become short of breath when discontinuing use in the daytime

  • Eventually become short of breath with continuous use.

Low-span bi-level PAP is insufficient for full ventilatory support.

 

Then, conventional management chooses symptom-relief via tracheotomy for continuous tracheostomy mechanical ventilation (CTMV) or via hospice services for help at home. Hospice automatically requests the patient’s physician to prescribe supplemental oxygen and morphine. These therapies hasten respiratory arrest and death by “turning off” breathing. In addition, they render the oximeter useless as a gauge of lung ventilation, airway clearance, and lung health.

 

Rather, we recommend that people with ALS:

  • Increase the bi-level PAP span

  • Eliminate use of expiratory PAP (EPAP to 0)

  • Switch to a portable ventilator, which gives deeper breaths at pressures of about 20 cm H2O.

 

In a recent publication, researchers suggested that the number of conventionally managed ALS patients who use bi-level PAP increased from 9% to about 21%. Few became CNVS-dependent (ELDVCV8001). In contrast, we have 179 of 246 (73%) ALS patients on NVS in "Centers for Noninvasive Respiratory Management" with 47% ultimately becoming CNVS-dependent.

 

In one study, where half of the patients were not using bi-level PAP despite having VCs less than 40% of normal, researchers did not seem to understand why patients refused or did not tolerate treatment (ALS3). The most likely reasons are:

  1. Conventionally, patients are prescribed bi-level PAP when VCs are 50% of normal. However, they are asymptomatic, so the inconvenience and discomfort associated with bi-level PAP does not outweigh perceived benefit.

  2. Bi-level PAP (rather than volume-preset NVS) is uncomfortable because the expiratory PAP hinders exhalation.

  3. Bi-level PAP is uncomfortable because the machine delivers uncomfortable high pressure flows to compensate for air leakage during sleep.

  4. Low span bi-level PAP is inadequate when patients become symptomatic and are certainly inadequate when ventilatory support is needed.

 

Since review articles, peer-reviewed research papers, and consensus statements continue to recommend bi-level PAP rather than NVS/CNVS, only patients managed at Centers for Noninvasive Respiratory Management:

  • Survive using full ventilatory support

  • Avoid episodes of serious breathing problems (i.e. respiratory failure)

  • Avoid frequent hospitalizations

  • Avoid invasive airway tubes passed down the throat (i.e. endotracheal tubes)

  • Avoid invasive airway tubes passed through the neck and into the windpipe (i.e. tracheostomy).

 

In 2015, Jackson et al. published “Symptom management and end-of-life care in amyotrophic lateral sclerosis.” They inappropriately recommended (ALS4):

  • Initiating bi-level PAP when the VC decreases below 50% of normal.

  • Use of inspiratory PAP at 6 to 8 cm H2O and expiratory PAP at 3 to 5 cm H2O. These low-span bi-level PAP settings are nearly completely useless to rest inspiratory muscles or provide adequate ventilatory support.

  • Use of mechanical insufflation-exsufflation (MIE) with inspiratory pressures at 20 to 40 cm H2O and expiratory pressures at -5 to -20 cm H2O. Again, these MIE settings are nearly complete useless.

  • Use of benzodiapines to help people sleep. The authors fail to consider that the benzodiapines may cause hypercapnia leading to increased mortality.

  • Use of supplemental oxygen rather than NVS/MIE for patients who are short of breath. NVS/MIE should be used first.

Thus, the authors have never reported any ALS patient to have become entirely ventilator dependent without hospitalization or developing respiratory failure.

 

Serious breathing problems (i.e. respiratory failure) are inevitable for ALS patients not managed at Centers for Noninvasive Respiratory Management.

 

Once acute respiratory failure occurs, the patient is hospitalized for shortness of breath and often has pneumonia. Intubation follows. Once intubated and unable to pass “ventilator weaning parameters” and "spontaneous breathing trials," the patient is told that they must undergo tracheotomy to survive. Of those who do, 80% eventually die from complications of the tracheostomy tubes (JBCV67).

 

Despite being unable to pass “ventilator weaning parameters” and "spontaneous breathing trials," removal of invasive airway tubes (extubation and decannulation) is possible at Centers for Noninvasive Respiratory Management.

 

Conventional management results in premature tracheotomy and death for about half of ALS patients who could have benefitted from CNVS.

 

 

OUTCOMES OF NONINVASIVE RESPIRATORY MANAGEMENT

 

People with ALS can benefit from three times daily lung volume recruitment (LVR) and the oximetry feedback protocol as long as (JBCV75):

 

Aspiration

\ˌas-pə-ˈrā-shən\

The taking of foreign matter into the lungs.

 

With advancing bulbar-innervated muscle dysfunction (BIMD), people with ALS lose measurable CPF and require gastrostomy tubes. However, if they are not aspirating upper airway secretions and causing the oxygen saturation baseline to definitively decrease below 95% despite optimal use of noninvasive ventilatory support and mechanical insufflation-exsufflation (NVS and MIE) (see Oximetry Feedback Protocol), then they do not require tracheostomy tubes (JBCV92). No supplemental oxygen or sedative medications should be used during the oximetry feedback protocol.

 

Initially, people with ALS are prescribed sleep/nocturnal NVS if they have:

  • Shortness of breath when lying down (supine),

  • Shortness of breath in any other situation,

  • Morning headaches,

  • Fatigue,

  • Daytime sleepiness, or

  • Other symptoms of breathing muscle weakness (see Symptoms).

 

Sleep/nocturnal NVS is the use of a portable ventilator with the air delivered via a nasal interface with an active ventilator circuit on either volume-preset (preferred) or pressure-preset cycling. As the underlying disease progresses, the person may continue to weaken; eventually, they will feel short of breath when discontinuing NVS in the daytime. This patient is prescribed continued use of NVS during daytime hours via mouthpiece interface to avoid the need for nasal apparatus use all day long. As the patient continues to weaken, he ro she may become CNVS-dependent without ever developing respiratory failure or being hospitalized.

 

STATISTICS:

 

  • For 113 of 354 (32%) ALS/MND patients, CNVS prolonged survival by 12.8 months (JBCV215). NVS provides breath volumes greater than patients can take on their own (full ventilatory support).

  • Of 179 ALS patients, who used sleep/nocturnal NVS to relieve symptoms for 1.2 ± 1.3 years (range of 1-40 months) starting from age 55.9 ± 5.6 years:

    • 115 (47%) patients advanced to CNVS and used it for 1.2 ± 3.4 years (range of 1-122 months) before requiring tracheotomy.

    • 41 (36%) patients became CNVS-dependent without developing respiratory failure or being hospitalized.

 

UPPER MOTOR NEURON SPASTICITY:

 

The upper motor neuron component of ALS causes upper airway spasticity and instability that can eventually prevent effective use of MIE because the patient loses control of the glottis. Continued build-up of airway secretion causes a definitive decrease of oxygen saturation baseline below 95%. It is recommended that this patient undergo tracheotomy for survival using continuous tracheostomy mechanical ventilation (CTMV) as described above.

 

Note: This is different for people with myopathies and lower motor neuron diseases, who do not ever need tracheostomy tubes despite having little or no measurable VC. They have no upper motor neuron spasticity. ALS does.

 

MORE STATISTICS:

 

  • Sancho et al. reported 22 of 88 (25%) ALS/MND patients who became CNVS-dependent for 7.8 ± 8.1 months (range of 1–36 months) before undergoing tracheotomy. Some did not require hospitalization (ALS10).

  • Cazzoli and Oppenheimer reported 20 of 84 (24%) ALS patients on nocturnal nasal NVS who became CNVS-dependent (ALS8). Though, none were introduced to mouthpiece NVS for daytime use. Five CNVS users eventually underwent tracheotomy.

  • Butz et al. reported that of 36 ALS patients, 30 used sleep NVS to relieve symptoms, and 20 of 30 were still able to walk when beginning NVS. Of the 14 patients who became CNVS-dependent, one used it when awake via mouthpiece intrface and one underwent tracheotomy after three years of CNVS (ALS11).

  • In another study, 57 ALS patients who used ventilators had been familiarized with the nasal and mouthpiece interfaces, the intermittent abdominal pressure ventilator (e.g. exsufflation belt ventilator), and MIE. Twenty-six became CNVS-dependent with no breathing tolerance for 23.7 ± 20.3 months. This was 20.2 ± 23.4 months prior to tracheostomy for 13 patients, 24.1 ± 15.6 months for seven patients who died without being intubated, and 32.2 ± 20.0 months for six patients still using noninvasive support (JBCV97).

  • At a Portugese Center for Noninvasive Respiratory Management, 64 ALS patients (ages 58.1 ± 12.0 years) used NVS for 0.9 ± 1.4 years. Thirty-eight patients became CNVS-dependent for 2.3 ± 2.1 years before eight underwent tracheotomy. Twenty-five patients became CNVS-dependent without ever developing respiratory failure or being hospitalized (MGCVConsensus).

 

Thus, for ALS patients without upper motor neuron spasticity, use of CNVS can prolong life and delay the need for tracheotomy. Many ALS patients can become continuously ventilator dependent using CNVS without ever developing respiratory failure or being hospitalized.

 

 

OUTCOMES OF ALS EXTUBATION

 

Extubation

\ˌek-ˌst(y)ü-ˈbā-shən\

Removal of an airway tube passed down the throat (i.e. endotracheal tube).

 

At two Centers for Noninvasive Respiratory Management, the successful extubation of 23 of 26 intubated ALS patients on mechanical ventilators has been reported. All had failed one or more prior extubation attempts at other institutions and/or failed "ventilator weaning parameters" or spontaneous breathing trials. These patients refused tracheotomy before being successfully extubated to CNVS and MIE in our centers despite being "advanced" and "unweanable" (JBCV197, JBCV235).

 

NOTE:

 

Unlike for other neuromuscular diseases, successful extubation of ALS patients, who are "predominantly bulbar," does not approach 100%, and even when successful, advanced "bulbar" ALS patients can typically only be CNVS/MIE-dependent for about one year before tracheotomy becomes necessary anyway. Although, we offer many of our advanced bulbar ALS patients at least one or two extubation attempts before resorting to tracheotomy.

 

In general, once intubated, ALS patients with unmeasurable pre-intubation assisted cough peak flows (CPF) should be considered for tracheotomy rather than for extubation to CNVS and MIE.

 

 

ALS DECANNULATION

 

Decannulation

\dē-kan′yū-lā′shun\

Removal of an airway tube passed through the neck and into the windpipe (i.e. tracheostomy tube).

 

In general, ALS patients with tracheostomy tubes are evaluated for decannulation by measuring the assisted cough peak flow (CPF). In addition, the rate of bulbar-innervated muscle dysfunction (BIMD) should be evaluated by measuring the:

  • Vital capacity (VC),

  • Maximum insufflation capacity (MIC),

  • Assisted cough peak flow (CPF), and

  • Manual muscle testing every other month for at least 2-4 months.

Along with the patient's history, this will help to determine whether BIMD is too excessive to permit long-term benefit from decannulation.

 

For many ALS patients, MIC can increase with practice for months to years despite a decrease in VC and rapidly progressive skeletal muscle disease (JBCV146). Unfortunately, decannulation should generally be avoided for:

  • Patients with rapidly decreasing MIC

  • Patients with MIC that equal VC.

 

STATISTICS:

 

  • The successful decannulation of 10 ALS patients with stable bulbar-innervated muscle function has been reported.

    • Six were CTMV-dependent for as long as two years prior to decannulation. These patients had been intubated and had unnecessarily undergone tracheotomy for CTMV.

    • Following decannulation, four patients weaned to less than 20 hours per day of NVS.

    • Following decannulation, six patients were CNVS-dependent for an average of 32.2 months (max of 7 years).

 

OUTCOMES AFTER DECANNULATION:

 

  • Re-tracheotomy when BIMD advanced.

  • Continued CNVS use (7 years and counting).

  • Inappropriately convinced by physicians to be electively re-tracheotomized within two months of decannulation.

  • Death six months following decannulation because BIMD advanced, and the patient preferred death to re-tracheotomy.

 

EXAMPLE:

 

A patient was intubated and underwent tracheotomy folowing acute respiratory failure. She was decannulated despite having no residual bulbar-innervated muscle function or measurable assisted CPF. She re-developed respiratory failure and was intubated at a local hospital. Due to continuous ventilator dependence, severe airway mucus encumberment, and refusing re-tracheotomy, she was transferred to our service. Again, she was successfully extubated to CNVS/MIE after aggressive MIE via the tracheostomy tube, which succeeded in clearing her airways and normalizing her oxygen saturation on room air. Although her BIMD was too severe for effective nasal or lipseal CNVS (she could not limit insufflation leakage with use of nasal or lipseal interfaces), CNVS was delivered via oronasal interface. Unexpectedly, one month after hospital discharge, she gradually weaned to sleep/nocturnal-only oronasal NVS until she died suddenly nine months later (probably of airway mucus associated asphyxia). Even in the absence of measurable assisted CPF, advanced "bulbar" ALS patients can sometimes be extubated to CNVS/MIE.

 

For the first time, European researchers and physicians are recognizing that ALS patients can become CNVS-dependent. Unfortunately, oral interfaces and MIE are not generally part of the noninvasive management regimen (ALS9). BreatheNVS could remedy the situation and improve outcomes for people living with ALS.