Anyone afflicted with a neuromuscular disease— anything that affects nerves and muscles— knows that a diagnosis does not come overnight. It takes time. Meanwhile, the disease progresses.

Before our trip to Mayo Clinic we had ALS at the top of the list; mostly thanks to growing fasciculations, muscle problems, and the aforementioned BSS (camptocormia; bent spine syndrome). The neurologists at Mayo Clinic conducted a few weeks of tests and also concluded that ALS reigned supreme at the top of the list.

The medical advice?

It would be wise to get your affairs in order.

At the time I could still walk and talk and breathe and drive. Relative to most ALS diagnoses, my symptoms seemed modest. Within weeks breathing became very difficult.

An alert and experienced pulmonologist put two and two together and came up with respiratory onset ALS. His response was instant. NIV.

The PubMed Abstract:

Respiratory muscle involvement is one of the main prognostic factors in amyotrophic lateral sclerosis (ALS). Acute respiratory failure is sometimes the first manifestation of the disease, although onset can be more insidious.

In the present retrospective study, it was proposed to review the clinical features and to assess the effects of non-invasive ventilation (NIV) on the prognosis of patients with respiratory onset, which was taken to be present when the first symptoms of muscular weakness were dyspnoea at exertion, dyspnoea at rest, or orthopnoea.

Respiratory onset ALS is uncommon, since it accounts for less than 3% of ALS cases. ALS with respiratory onset has some common clinical features: male predominance, frequent camptocormia or dropped head, frequent widespread fasciculations, limb mobility fairly well preserved and significant weight loss in the early stages.

ALS patients with respiratory onset still have a poor prognosis compared with those with bulbar or spinal forms. NIV should be proposed promptly because it improves the symptoms, general state of health and survival time.

I have all the basics. Difficulty breathing. Camptocormia. Fasciculations, good limb mobility, 70 pound weight loss.

Why am I still here 42 months after initial symptoms?

NIV.

Non-invasive ventilation. A ventilator and mask which are now in use more than 23 hours a day. Life has been extended thanks to an alert pulmonologist.