I arrived in our outpatient clinic the other day and the local TV News crew was there waiting for me. No, I have not become a celebrity. Far from it. A fugitive maybe? What I learned was that they were not really after me, but was following the patient who was referred to us, whom I was seeing for the first time.
Before I walked into the exam room where my patient was, the TV news reporter whom I immediately recognized, as she was also the local evening news broadcaster, greeted me and asked permission if they could shoot footage of my interview and examination of the patient. How could I say no, when the camera was already there in front of my face?
The TV reporter then put me at ease, as maybe she sensed the tension in my face, and said that I should just do my regular routine as if there was no camera recording me. Easier said than done. I just wished they notified me a few days in advance so I could have at least prepared and had my hair done too. Oh I forgot I have no hair. I checked then if there was something in my face or something stuck in my teeth, so at least I won’t look gross on camera. They hooked a small microphone on me, and said I was clear to go. It was show time!
I entered the room with the camera rolling and following me. I met my patient. He was a young man, in his early 20’s, tall and muscular, but walks with a cautious gait. I also noticed some weakness with his handshake. With a nasal-twang voice, he told me that he was trying to increase awareness of his devastating disease and that he was raising funds for a foundation he had set. Such a noble cause. Such a noble gentleman. That was the reason the TV crew was there.
My patient has ALS.
ALS or Amyotrophic lateral sclerosis is a relentlessly progressive, presently incurable disease. It was first described in the 19th century, long before the famous New York Yankee baseball player Lou Gehrig was afflicted with it, for whom the disease was now named after. It has an incidence of 1 to 3 cases per 100,000 people worldwide.
(image from here)
The disease affects the ‘motor’ neurons (nerve cells) in the brain and in the spinal cord. These neurons supplies the muscles that are responsible for our movement (hence the name ‘motor’). Thus the common presentation of patients with the disease is progressive weakness – may first present with clumsiness in writing or inability to hold a glass of water and advance to full paralysis of the arms and legs, that they become wheelchair-bound.
They also present with hyperreflexia and spasticity as if they are performing Michael Jackson’s dance moves. Their speech becomes garbled as if they have swallowed their tongue, for our tongue is a muscular organ and thus gets affected. Eventually their muscles atrophy as it loses its function.
It is rare that ALS would impair the cognitive or intellectual functions. Though about 15 % or more will develop some form of dementia. So the sad part is that they are fully alert, with their mind so clear, while their body gets weaker to the point that they could not move, imprisoning them inside their own body.
So you may ask, what was the patient, with a purely neurological disease, doing in a our pulmonary clinic?
Sadly to say, the life threatening features of the disease involves pulmonary. Weakness involves the muscles of respiration too, therefore breathing becomes more labored as the disease advances. Progressive respiratory failure, in fact, is the most common cause of death in ALS. That must be an awful feeling, as if you are drowning and you are not even underwater.
They can also have problems with swallowing as time goes on, making eating difficult, if not impossible. This trouble with swallowing and problems clearing their throat, combined with ineffective cough, predisposes them to aspiration with resultant pneumonia, which is another common cause of their demise.
I had the patient perform a breathing test in our office. This was to assess if his ventilatory capacity was already compromised. Once the lungs’ vital capacity drops to 50% of normal, it is associated with significant respiratory symptoms and would need intervention. If it drops to less than 30%, the risk for respiratory failure or sudden death is quite high.
What intervention can we do? Patients with significant respiratory compromise can be placed on Non-invasive Positive Pressure Ventilation (NIPPV) when they sleep, as well during the day if desired. It is like putting a fighter pilot mask and attaching it to a blower. This is similar to the Continuous Positive Airway Pressure (CPAP) machine that people with sleep apnea use. The NIPPV helps them breathe better and improves their quality of life, though whether it prolongs their life is still debatable.
Of course if the breathing status gets really bad, a tracheostomy can be done and they can be hooked permanently to a mechanical ventilator. Though only fewer than 10% of patients with ALS choose to have this. I guess people accept the fact that these invasive intervention, like tracheostomy, is just prolonging the agony and does not prevent the inevitable, that is death.
ALS is indeed a ravaging disease. It is an unrelenting condition, and ends only with dying. The mean life span of patients with ALS is 3 to 5 years after the diagnosis. And at this point, there is no known cure. It is a death sentence whatever angle you look at it.
After examining my patient and reviewing his breathing test, I told him that his vital capacity was still way above 50% and that he does not need any intervention…..yet. A glimmer of good news in an otherwise gloomy outlook.
Life is short. In my patient’s case, it is short-er. Much shorter.
Live life to the fullest, even how short it may be. For it is not how long our light shines, what matters is how bright it glowed in the dark night. My patient is a shooting star.
“I might have had a tough break, but I have an awful lot to live for.” – Lou Gehrig
P.S.#1: I hope I have raised awareness of this disease on my own, in behalf of my patient.
P.S. #2 : I hope I see myself on TV. (*mulls over a showbiz career*)