A frequent question in our support group and in our monthly virtual “meet-ups” surrounds the need to know how severe respiratory involvement in Neuromuscular Disease (NMD) will get. It’s a question asked more often by those diagnosed with NMD later in life and/or the newly diagnosed. Sometimes the question comes from a parent of a child who has an NMD.  Understandably, they want to know if bi-level mechanical ventilation will eventually be needed all day to support breathing. Sometimes they also want to know how long their breathing may be adequately supported. It is wise to want to plan ahead with any chronic medical condition.
 
Questions surrounding respiratory involvement are just one example of why having a genetic diagnosis to confirm one’s exact form of NMD or disease subtype can be helpful. If the diagnosis is Amyotrophic Lateral Sclerosis (ALS), many scholarly articles reference the rate at which respiratory muscles are expected to decline and the degree of severity of weakness. Even for long-studied NMD diagnoses such as Duchenne Muscular Dystrophy (DMD) and Spinal Muscular Atrophy (SMA) Type 1, a lot of research has been published to advise of expectations for respiratory decline. For those with more slowly progressive and lesser studied NMDs, it may be impossible to know what to expect in terms of how weak the respiratory muscles will get and ultimately how much breathing support one living with that diagnosis might need. 
 
If you know your specific diagnosis, you may gain clarity about the rate of respiratory/breathing muscle decline and potential severity by reading papers published from natural history studies about your specific NMD type or disease subtype. For example, if you live with Limb Girdle subtype R1/2A, search an internet browser for “natural history limb girdle 2A.” If you struggle to find published papers on natural history, NMD-related nonprofit organizations (i.e. Cure CMD, Cure SMA, Parent Project Muscular Dystrophy, etc.) ​that raise funds to research treatments and/or cures for your specific condition may be able to assist you in obtaining published papers about the natural history of your disease. You may even find these publications on your own on the nonprofit organization's website. 

Some natural history studies include details like the average age to begin assisted/mechanical ventilation with that diagnosis and even the rate of annual decline of Forced Vital Capacity (FVC), a measure that is taken during Pulmonary Function Testing (PFT) that shows the total amount of air forcibly blown out after taking your deepest breath​. Any published details are based on the study participants and may or may not reflect all individuals with that diagnosis.
 
Physical changes to one’s body through skeletal abnormalities like scoliosis and kyphosis can amplify the degree of respiratory muscle weakness one may have. Other influencing factors can be retained airway secretions (mucus), micro atelectasis (the collapse of an area within the lung), and repeated respiratory infections that escalate to pneumonia. Some with the same diagnosis, including siblings, can have differences in their clinical presentation, which can mean one has more pronounced respiratory muscle weakness than the other. With all of these factors to consider, questions about respiratory/breathing muscle decline and severity are difficult to answer with 100% certainty.

Both my neuromuscular specializing pulmonologist (now retired) and respiratory therapist (RT) at the time had never prescribed or worked with a patient using mouthpiece ventilation. This is common in the US. I got the impression that it was going to be up to me to sort this out. I knew the mode enabled was incorrect, and another individual with the same neuromuscular diagnosis assisted me in understanding what settings mode I needed, based on what he was using. It was the Trilogy 100's proprietary volume-based mode called "Mouthpiece Ventilation (MPV)." And to prevent the constant, strong flow of air, a setting referred to as a
"kiss trigger" would be enabled. My RT contacted a regional Respironics representative who agreed with what I had learned. My pulmonologist signed off on the change, and the new settings were enabled.  As a result, the device only delivered a breath when I closed my lips around the mouthpiece, delivered the same sized breath each time, allowed me to stack small breaths in succession, and only blew a light amount of air when the mouthpiece was outside of my mouth. 

After a period of using MPV almost daily for a few years, I found I no longer needed it except in specific scenarios:

• when I needed to keep longer hours
• when I had not slept enough the night before
• when I had talked a lot or raised my voice loudly 

​MPV can get me through days without needing to stop and take a nap. There are two other benefits I've experienced from mouthpiece ventilation:

1. It helps me get larger breaths when I don't have my CoughAssist T70 with me.  This means I can use this as a tool to slightly augment my cough and get up an unintentionally inhaled piece of dry food. Whether or not this works for you is dependent upon how weak and/or ineffective your cough is and what tidal volume setting is enabled on your mouthpiece ventilation mode.
2. Breath stacking, (also known as air stacking or lung volume recruitment), sipping more than one breath in succession to fully fill my lungs with air, has helped to stretch my chest wall muscles throughout the day, and that supposedly makes them more easily accept ventilation during sleep. Think of breath stacking as physical therapy for the lungs and the muscles between the ribs.     ​

​Individuals that are still ambulatory may want to consider pushing the vent on a pole that can be purchased for their specific model or placing it on a rollator walker that has a seat. Using a small cart on wheels is also an option some have used. You may need assistance moving the same vent from the wheelchair to the bedside and vice versa; the portable vents of today weigh approximately 8-10 pounds.  Many United States insurance companies will not cover a second vent, so this daily task is often assigned to a caregiver.  

​I hope what I have shared helped you to learn more about mouthpiece ventilation so that you can speak to your clinician and determine if it might be right for you.  

Take care,
Andrea

Another common problem is the sleep study did not include monitoring for both oxygen saturation and exhaled Carbon Dioxide (end tidal CO2). Lacking the "full picture" of our sleep can lead to supplemental oxygen being ordered, a more dangerous example of mismanagement. (You can learn more about the danger of unventilated supplemental oxygen for those with neuromuscular breathing weakness at https://breathewithmd.org/oxygen-caution.html.)
 
What your doctor is ordering, CPAP, is not advised for those with weakened breathing muscles, because it offers one continuous positive airway pressure that blows while you’re inhaling and exhaling.  It can be difficult or exhausting to exhale against that pressure and make us feel worse. For more about this, consider watching my video “BiPAP or Bi-level Versus CPAP: Understanding Why CPAP is NOT for Neuromuscular Disease,” at https://youtu.be/A1gH6hfZigo. 
 
The point of assisted ventilation at night is to rest the breathing muscles by assisting with the process of moving air into and out of the lungs, either reducing the effort or completely eliminating that effort. Only bi-level devices (often referred to as “bipap,” and portable ventilators) move air into and out of the lungs by offering two different positive airway pressures, one for inhaling (IPAP), and a second much more reduced pressure for exhaling against, (EPAP).  In some cases, with ventilators using what's called "active circuit," EPAP is set to zero, eliminating all effort to exhale.  

It can be difficult to confront a clinician who is not familiar with neuromuscular breathing weakness and is incorrectly prescribing CPAP.  Trust me, I've been there; 2013 was my "lucky year" for that!  This clinician may even be known as an expert in your area and has prescribed CPAP hundreds if not thousands of times for individuals with central and obstructive sleep apneas. You may feel intimidated challenging his or her opinion.  

While it is not impossible for an individual with a neuromuscular condition to have central or obstructive sleep apnea, it’s more likely that the sleep study equipment is interpreting the weak, shallow breathing and hypoventilation (under ventilation) as lack of breathing or “apnea.” It takes someone with a trained eye to realize what they are seeing is instead lack of muscle effort caused by the neuromuscular condition.  
 
If you are looking for documentation to share with your clinician in the effort of self-advocating to get the appropriate care, you might want to share an article published in the MDA Quest magazine called, “Not Enough ZZZzzzs.” It’s available at https://www.mda.org/quest/article/not-enough-zzzzzzs. Another easy-to-follow document is Muscular Dystrophy Canada’s, “Guide to Respiratory Care for Neuromuscular Disorders” available at https://muscle.ca/wp-content/uploads/2019/09/RC13guide-EN.pdf.  You can find Chapter 7: Noninvasive Ventilation on page 25. 

​​If after sharing materials and discussing this with your clinician, he or she is still insisting you need CPAP (as mine was), you have the right to request a second opinion referral to another clinician that YOU select. A neuromuscular pulmonary specialist, usually located at a university-based hospital, is your best bet for getting an accurate assessment and plan of care for your breathing weakness.

The Day After
I got what I am guessing was five hours of sleep, and when I signed on for work the next morning, I was quite tired.  It was hard to tell if that was from lack of sleep or the vaccination causing fatigue. During my lunch break, I was feeling less tired, but within minutes of deciding I would work my full shift, I began to feel those "temperature regulation issues" starting again. At this point, it had been about 20 hours since my vaccination. Chills were more pronounced and got increasingly worse over the next two hours along with new joint and muscle aches.  That strange heat sensation under the surface of my skin was back too, and it was worse. 

​By the time my work day ended, I was bundled up in jackets and blankets and feeling miserable. It took everything I had to focus and get through the last hour of my work day. I checked my body temperature to find it was only slightly elevated above my usual temperature and not high enough to be considered a fever.  I took more ibuprofen, went straight to bed, and I slept on my assisted ventilation for nearly four hours.  ​