Breathing Diagnosis Mystery

Dear Andrea, 
I have Muscular Dystrophy related breathing issues, and my doctor isn't sure what to call them. He mentioned maybe it's COPD, or maybe it's something milder like asthma.  Does this sound right to you?

​Sincerely,
Unsure of Diagnosis

Dear "Unsure of Diagnosis,"
You are not alone.  I personally spent more than a decade of my life thinking I had severe asthma. I was reporting a tightness in my chest which made it tough to breathe and was prescribed an ever-increasing dosage of a daily asthma "maintenance inhaler" that my weakened breathing muscles were too weak to inhale deeply into my lungs, even with a spacer device. This was all the result of seeing a pulmonary critical care specialist who was not experienced in treating Neuromuscular breathing weakness but was an expert in COPD and asthma. Looking back on this, I feel stupid, but it's hard to know what you don't know. 

It wasn't until after my middle sister Cheryl died from inappropriate care for Muscular Dystrophy related respiratory failure that I read a lot of medical literature about ventilatory pump failure, mechanical ventilation use in Neuromuscular Disease (NMD), and books authored by Dr. John. R. Bach. A Neuromuscular pulmonary specialist at a university-based hospital confirmed I did not have asthma when she reviewed my medical records, including sleep study results, and ordered her own pulmonary function testing (PFT). I instead had a weakened diaphragm, weakened and contracted muscles and joints between my ribs, and was living with chronic hypoventilation (under ventilation) that had begun showing itself in the form of sleep-disordered breathing. All of it stemmed from my NMD and had absolutely nothing to do with asthma. In fact, once I got prescribed the correct interventions (bi-level mechanical ventilation and mechanical insufflation/exsufflation (aka mechanical cough asssitance), the chest tightness I had left along with the ever-worsening fatigue, daytime sleepiness, and morning headaches. An inaccurate diagnosis like mine is not uncommon, as I have met many others with NMD over the years who have similar stories.  

With COPD, individuals will have ​difficulty exhaling all of the air from their lungs. Because of damage to the lungs or narrowing of the airways inside the lungs (obstruction), exhaled air comes out more slowly than normal. At the end of a full exhalation, an abnormally high amount of air may still linger in the lungs. Contrast that to those of us with NMD. We are generally free of lung issues and oftentimes exhale air in one fast push. Instead, our issue is with the muscles that allow us to ventilate our lungs by moving air into and out of them. In NMD, we have a restrictive, not obstructive pattern of breathing, meaning we have the inability to take large, deep breaths. This restriction can be caused by weakened breathing muscles alone or may be amplified by a skeletal defect, more commonly seen in congenital forms of NMD, that leads to an abnormal curvature of the spine such as scoliosis. Others may have a spinal curvature known as kyphosis or even spinal rigidity, all limiting the ability of the rib cage to develop normally and/or expand fully, ultimately affecting breathing. Some of us also have contractures and tightness in the muscles and joints between our ribs. All of this can limit our ability to take large, deep breaths, even more so when we are supine (lying down) and our natural ability to breathe deeply is reduced.   

In conditions like asthma and COPD, airway obstructions, they are treated very differently than that of the restrictive pattern of breathing seen in NMD. This is the main reason why I recommend that you work to find a specialist in neuromuscular breathing weakness who can do a thorough evaluation and testing and then interpret that based on an eye experienced in detecting and interpreting neuromuscular breathing weakness.  Unfortunately, these specialists can be difficult to find in the United States (US), and more so in rural areas.  For that reason, many of us have to drive or even fly hours from home to get the necessary medical care. A telehealth visit may be an option for you, at least for an initial consultation.  

It is ultimately your choice if you stay with a clinician who is not trained or experienced in treating those with neuromuscular breathing weakness.  But doing so can lead to poor outcomes and reduced quality of life.  Some in the NMD community have been able to self-advocate (speak up for themself) to help educate the untrained clinician about neuromuscular breathing weakness.  All people and clinicians are different, so it's impossible to know if your particular uninformed clinician relationship is salvageable or if a second opinion referral to a neuromuscular specialist is the better route to take. 

If you have not already done so, please read my post "Sleep Study Results: A Unique Case," as it will alert you to another challenge many of us have when new to the breathing muscle weakness journey, an inaccurate sleep study interpretation and subsequent inappropriate interventions prescribed. 

Wishing you the best,
Andrea