My Brittle Bones

I belong to a very ordinary Australian family, albeit with two obvious differences. First, compared with the stereotypical sports-loving, tough Aussie, some of us are quite weak and physically frail, thanks to a mutant gene. Second, my family has resisted the secularism that is a dominant feature of modern Australian life.

I believe it is no accident that we preserved our Christian profession. One reason ill-mannered New Atheist attitudes gained little traction among us is that Christian theism provides a secure footing for our family in a darkening world, which, thanks to the recent proliferation of “genetics counseling” clinics in modern hospitals, is increasingly hostile toward the congenitally weak and imperfect.

Although my form of brittle bone disease (OI, osteogenesis imperfecta) is quite mild, I experienced some fifteen or so fractures in my youth. My high school classmates gave me such winsome nicknames as “Fragile Phil” and “Brittle Burcham.” OI also affects one’s hearing: Wearing bulky hearing aids from age thirteen did little for the machismo of a teenage boy coming of age in 1970s Australia.

After marrying my wife in the United States on completion of my postdoctoral studies, we returned to Australia, where our daughter was born a few years later. One day, our petite ten-month-old infant was trying to pull herself up using a chair leg for support. My wife heard a popping sound and a whimper as she flopped back onto the floor. X-rays indicated she had snapped a tibia.

Upon learning of the disorder affecting my family, the emergency-room staff in the local children’s hospital told us about a gifted doctor who knew a lot about OI. I was keen to meet the doctor, given my positive memories of the orthopedic surgeons who cared for me in childhood. A pharmacologist by training, I also knew that the bisphosphonates—a class of drugs developed for osteoporosis sufferers—were then being tested on OI patients. I hoped the doctor would know if they might help our daughter.

We found the doctor had little interest in the clinical management of pediatric OI patients and knew little of bisphosphonate pharmacology. The doctor and attending nurse initially engaged us in chatty small talk, but their intentions soon became clear: They wanted to know whether we hoped to have another baby. After my wife said we did, exasperated grimaces passed between them.

“If that is the case,” the doctor replied, turning toward me, “we will need to obtain blood samples from some members of your extended family to allow DNA testing.” Fearing my family might be reluctant to participate in a research project, I naively asked why the genetic data was required. Waving a dismissive hand toward our daughter, who until this point had tried her darndest to win the doctor’s attention with coy smiles and giggles, this gifted physician who knew so much about the disease abruptly replied, “We want to ensure you don’t have another one of those!”

My emotions now resembled those of Hansel and Gretel at the point of their rude awakening in the famous fairy tale. Like the sugary treats fastened to the witch’s cottage, the saccharine assurances from the ER staff that this doctor was keen to help OI patients had obscured his intentions: They had brought us to a eugenicist who wished to push any of my future OI-affected offspring into the oven.

My wife had awoken to the same reality, and in one of the most galvanizing moments of our marriage, with firm voice she informed the doctor that she would never consider aborting a child within her womb. We were promptly shooed from the room.

Upon reflection, this episode exposed several questionable assumptions that underpin modern genetic counseling services. Unfortunately, those involved in these practices rarely, if ever, publicly clarify the beliefs that guide their daily work. What are these beliefs and their likely social consequences?

First, genetic counseling clinics essentially promise to “purify” the genetic stock of the populace, believing this will provide lasting benefits to any nation. I beg to differ. The negative impact that abortion would undeniably have exerted upon my own family line confirms that no physician on earth could possibly foresee the life achievements of future descendants of frail parents. After my grandmother Jessie arrived in Australia nearly a century ago, few doctors would have looked at her tiny, fragile frame or her abominable hearing—or at the small, unassuming gardener by her side—and rated the prospects of their offspring very highly.

Let us imagine Jessie fell under the spell of the coercive eugenicist my wife resisted and agreed to abort her three OI-affected offspring—Lloyd, Mabel, and Cyril—while retaining her firstborn Laura as her sole “genetically pure” child. How, precisely, might snuffing out her affected offspring have made my local society stronger?

Aborting these three babies would only have exacerbated the severe skills shortage afflicting our state economy. The multigenerational list of those who would have been flushed away is incomplete but includes a doctor, a medical student, several nurses, and an even greater number of teachers, plus a headmaster, two scientists, a systems engineer, a musician, an occupational therapist, a dental technician, a physiotherapist, a draftsman, some pastors, and several skilled tradesmen.

Each has been a caring, socially engaged, and responsible citizen without a single criminal conviction among them; none has depended on the state as a welfare recipient during his working years; and virtually all have been, or remain, selfless contributors to several mainstream branches of the Protestant tradition in Western Australia. The loss of human and social capital to our state had Jessie aborted her three OI-affected offspring would have been substantial.

Some genetic counselors allege that families like mine are an intolerable “social burden,” claiming that destroying us in utero saves the health care system significant “costs.” How much would the West Australian hospital system have saved had my father and his OI-affected siblings experienced death before birth?

I would estimate that aborting them would have prevented an upper limit of some one hundred fractures. Treating a fracture is among the cheapest interventions in modern medicine: Perhaps we would have saved the cost of a few cartons of plaster-of-Paris bandages, several dozen calico arm slings, and several cases of radiography film. For the small number of fractures that required surgical correction, we could have saved the cost of a dozen or so brief hospital stays. For a wealthy state like ours, this seems a trivial sum.

Second, I fear that decisions concerning congenital mutations that condemn fetuses to destruction are made arbitrarily behind closed doors in a highly undemocratic manner. Every day, researchers around the world report new disease-associated mutations in medical journals. Such studies show that we are all walking genetic junkyards: Recent U.S. research suggests that every individual carries, on average, 313 disease-causing mutations.

Some of us become aware of our harmful mutations early in life, while others discover their presence late. Why should this simple biological reality consign my family members to in utero destruction? Why are some mutations more equal than others?

Who decides if a newly discovered mutation goes on the neo-eugenicists’ list of unwanted disease genotypes? I was shocked to learn that my mild genetic disease was included on such lists. Who made that decision? What other conditions—mild, moderate, or otherwise—are included? Are the list-makers held to public account? Why aren’t their lists posted on hospital websites? Choosing maternity hospitals would be easier for families like mine if we knew up front whether we were likely to be harassed.

Third, I fear that genetic counseling is doing great harm to the public standing of hospitals and the medical profession. I suppose it is hard for able-bodied people to grasp its significance to families like mine: I can recall gatherings from my youth where we discussed hospital staff in the same way other families chat about revered schoolteachers, parish priests, soccer coaches, or piano instructors. Dad often praised his favorite orthopedic surgeon, while his siblings would wax lyrical concerning the ENT surgeon who miraculously restored their hearing. I might pipe up to extol the wonderful nurse who had a happy knack of cracking jokes, immobilizing broken limbs, and administering painkillers in a way that sent a downcast lad safely on his way, thinking he could face the world again.

Because we knew they cared for our welfare, we grew to love these hospital staff. It never crossed our minds that they would intentionally harm or trick us. The slick, coercive genetic counseling workers we encountered were from a different planet.

Fourth, I fear that our societies have reached the sad point where the belief that some humans command a favored right to life simply because of their physical strength is now unquestioned orthodoxy. What a strange warping of human potentiality this outlook implies. I can recall individuals from my youth who displayed great sporting prowess as teenagers but, on navigating the turbulent waters of adulthood, failed to cope as their personal lives ran aground on the reefs of drug and alcohol abuse or family disintegration.

As one born congenitally frail, I have come to respect this mysterious disorder called osteogenesis imperfecta and even thank heaven for how it prematurely confronted me with my own frailty during my youth. By forcing me to face my limitations and find the fortitude to transcend repeated bouts of medical adversity, in requiring me to choose a vocation in which success did not depend on brute strength, OI made me a stronger and more mature individual.

In the end, we are all frail creatures. Maybe this is why some people wish to abort persons like my father and me: Perhaps we confront them with the inconvenient truth of their own mortality and the ultimate futility of their existential rebelliousness. Rather than pursuing the futile idea that humanity can live in perpetual defiance of God, we Brittle Burchams have found great hope and refuge in the arms of the strong God who became as weak as a newborn baby to conquer the evil that stains our fallen world.

Philip C. Burcham is a professor of pharmacology in Perth, Western Australia.

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