A Medical Breakthrough That Can Do Everything – Except Make Me Better

People with and without disabilities would all benefit from an evolution of thought that identifies human qualities that truly matter.

When I was just eight months old, my mother took me to the pediatrician with fears that I had an ear infection. The mountain roads leading out of Tahoe City to the nearest doctor had become familiar in recent years; my sister was born three years earlier, and our mother’s impulse was to have us checked out at the first sign of illness. I had been unusually fussy for a day or two, crying and running a low-grade fever, and even though my regular doctor was out of town, we made the trip on that sunny day in August to see the on-call pediatrician for the first time.

The doctor was a no-nonsense, retired military man. He quickly confirmed that I indeed had an ear infection brewing, and then he continued with the rest of the physical examination. “We have a problem here,” he said, allowing his calm words to defy the gravity of the situation. My muscles were not responding properly to his stimuli. “It’s either cerebral palsy or muscular dystrophy,” he concluded. My parents owned a small beauty shop and had no idea what either condition really meant. They were simply told I would need to undergo further testing right away.

Within a week my parents brought me to Stanford Children's Hospital where their tests confirmed the pediatrician's suspicions. We were given the diagnosis of spinal muscular atrophy (SMA), one of more than thirty different types of muscular dystrophies. Thirty-seven years ago, the doctors at one of the best hospitals in the nation could not offer much hopeful advice. “Take him home and love him for the short time he's here,” they told my parents. SMA has caused more infant deaths than any other genetic condition to date, and the doctors said the odds were not good that I would live to see my second birthday.

My diagnosis came at a time when technological advancements were in their infancy. Widespread use of the internet would still be more than a decade away, and to be a well-informed parent of a child with SMA was to be persistent and unapologetic in your pursuit of potentially life-saving information. Rather than seeking out blog posts or Facebook groups created by those who had been down the same road, my parents sent letters and made phone calls that reached across the country to a handful of neuromuscular specialists who themselves had little more to offer me than prescriptions to treat the symptoms of this unique, inherited disease. We were all in uncharted territory, and as I grew older, sometimes it felt as though the experts were learning more from us than we were learning from them.

All of that suddenly changed two days before Christmas last year when my inbox displayed news that completely caught me off guard. “Spinraza has been approved!” the subject line read, referring to a first-of-its-kind drug developed to treat my disease. The message was from the Muscular Dystrophy Association, and I read it twice before diving into the first page of Google search results. “What is Spinraza?” I typed, double checking the spelling of a medication I never even knew was in development. Before long, I realized the scientific jargon associated with this groundbreaking treatment was over my head. I quickly shot off a short message to one of my physicians: Is this something that may be of some benefit to me?

The answer was yes; a medical breakthrough had come in my lifetime. At the core of spinal muscular atrophy, I am missing a single gene. The gene is responsible for producing a protein that creates special cells called motor neurons, cells that relay messages between nerves and muscles. Without this protein my nerves and muscles essentially communicate even worse than two people on opposite ends of the political spectrum today. But in the body’s beautiful complexity, there is a backup gene – a spare tire of sorts – but our spare tires have a large puncture in them too. Spinraza acts as a genetic patch over that hole.

As one might imagine, a large gulf exists between a scientific explanation of a disease and its lived experience. For a long time, the most apparent effect of my having SMA could be seen in the large, electric wheelchair I drive. One might consider my wheeled machine to be the most significant aspect of my disease, but in reality, it is the least consequential aspect of all. Far more important are the abilities to chew and swallow, to take in a breath and let out a cough unassisted. Each of these basic human functions are muscle-driven, and spinal muscular atrophy often impacts them all.

I have received my nutrition through a stomach tube since 1994, when I was fourteen years old. Then during my first year of college I noticed it becoming more and more difficult to speak uninterrupted for any length of time. My lungs could no longer suck in the same amount of air as the year prior because the mechanism that allows the lungs to expand when you breathe, called the diaphragm, is a skeletal muscle. I began to need mechanical ventilation when I slept, and respiratory infections became harder to fight off. I came down with the flu about a year after graduating from law school, and I never fully recovered. More machines, hoses and countless other attachments became part of my life in order to keep my lungs moving. In 2010, my doctor informed me that I was at a high risk for having a “terminal event” in the home unless I had a procedure called a tracheotomy that creates a direct airway through the windpipe. That was the last thing I wanted. I ignored him for more than a year until I really could not breathe, and then I let them wheel me into an operating room and insert a small pipe into my neck.

I share these facts with some real hesitation. For the non-disabled, hearing about the physical impact of my disease often stimulates a strange Pavlovian reaction, drawing on feelings of pity, tragedy, heroism and inspiration. But the fact that my muscles are not particularly useful is not pitiful nor tragic nor heroic nor inspirational. It is just life. There is certainly a spectrum of challenges that we humans face, but just because my challenges are always visible for the world to see does not mean they necessarily eclipse yours.

Even so, disability – both physical and non-physical – is treated differently. While not all disabilities can be seen, there is still a common belief that able-bodied people are better. This belief can be traced back to a way of thinking known as the “medical model,” the notion that if only we could repair the spinal cord, reorient the jumbled DNA or otherwise cure the “defect” of the individual, then he or she could finally become a valuable member of society.

Yet it takes just a moment to survey some of our next-door neighbors and national leaders to understand that mobility or intellect does not give someone value. Value comes from how you treat people, your instinct to give advantage rather than take advantage and the extent to which you love others more than yourself. Value is not attached to measures of brilliance or what we look like, how we move, who we love, what language we speak – or even if we cannot speak at all. People with and without disabilities would all benefit from an evolution of thought that identifies human qualities that truly matter.

For many people with disabilities, an inherent conflict exists between seeking the best health care available and recognizing that our worth extends far beyond what our bodies are able to do. There are undeniable benefits that come with being as healthy as possible, but they are not the kind of benefits that have anything to do with quality of the individual. We cannot allow medical advancements to reinforce the erroneous ideas that strong muscles, clear eyesight or crisp hearing are more important than good deeds. We must remember this distinction if our understanding of human value is to advance at the same rate as medical treatments.

Even as I began the long journey toward attaining the groundbreaking SMA treatment, I had already reached an important conclusion: Spinraza is not going to create better people. I still have vivid memories of what it felt like for more than three decades when there was no treatment for SMA, and those memories make me deeply grateful that Spinraza will save and extend the lives of those with my condition – but I must not add value that is not there. It is not a magic pill that will stop others from feeling sorry for me. It is not a prescription to eradicate the deceitful standard of normalcy.

So it was the medical aspect of SMA rather than the social aspect that caused me to feel great relief last month when I received the first of a series of injections of the cutting-edge medication. I was reminded of how many kind and talented people had to come together to make that day a reality, and it is difficult to convey my sense of gratitude for how I began to feel better almost immediately. But my gratitude cannot cause me to lose sight of the fact that this treatment will do nothing to enhance my personal worth as an individual; a lifetime of limited mobility has not emphasized the value of movement for me – it has emphasized the value of everything else.

David Bekhour can be found on Twitter @OptimisticGrin.

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