Simon Dharmakirthi, 17, watches a basketball game on his television set with astute perception. Simultaneously, he cleverly updates his twitter feed and Facebook fan page, providing followers with commentary on the live game. This casual vignette is one of many of Simon’s life: he was just elected Senior Class President of Dr. Phillips High School out of over eight-hundred students, he has taken both AP and Honors classes, and he participates in multiple school clubs. He loves to play video games, is known for a witty sense of humor, and plans on pursuing Communications in college.
But the most focal detail left out of Simon’s life is that he, along with over 20,000 other people in the United States, suffers from a genetic condition known as Osteogenesis Imperfecta (OI). OI, colloquially known as “brittle bone disease,” is a multivariate condition where the collagen fibers of the body are severely deficient, thereby resulting in frail bones. OI is classified into eight types, each with different features regarding growth rate, anatomy, and bone “breakability.” Simon specifically is diagnosed with the rare Type VIII, in which his legs are curved and stunted and his total height measures only 33 inches. Due to such features, he is unable to walk. The variability of OI is demonstrated here; some individuals, specifically with Type I, have less stunted growth, are able to walk, and yet still undergo a comparable number of fractures (often in the hundreds).
Research on finding a cure for OI has been mainly futile: since the condition is genetic and effective from the start of an individual’s birth, a pure cure is tedious at best. However, a sizable measure of research is being developed regarding certain treatments of the condition. Not all are easily administered. Individuals diagnosed with OI often undergo substantial surgeries to make up for stunted growth, repetitive fractures, and respiratory conditions. Metal rods occasionally are used to provide structure to bones and promote elongated growth. There is a definitive overlap with the treatment for the more common condition of Osteoporosis, and some medical drugs such as biophosphonates have been proven to be effective in strengthening bone tissue in certain cases. But apart from such measures that promote linear stability over the time of an individual’s life, the only remaining strategy is physical therapy to improve muscle condition and to increase mobility.
This isn’t to say that OI research should be viewed with such pessimism. Certain advances have been made recently, though most are specific to mice so far. A team led by Dr. David Lee of the Baylor School of Medicine found that by using the anti-TGF-β neutralizing antibody 1D11, which promotes the synthesis and transport of collagen, stronger bone integrity could be achieved. While such research is noted to not be a sure-shot for humans, it sheds confidence that more robust treatments are possible in the future.
For those with less severe versions of the condition, life isn’t as drastically disadvantaged. Individuals with OI include Olympic medal winners, both in the Paralympic and Olympic games, such as shooter Josef Neumaier, coxswain athlete Doug Herland, and sledge hockey player Taylor Lipsett. But such relative physical freedom isn’t granted to all individuals with OI. The discrimination between different types is so severe that labeling the condition with a blanket medical term could prove misleading. Simon, for instance, cannot walk and thus gets about with a fully automated wheelchair propelled by a joystick. For him, getting to college is no simple task given the weight and enormity of his electric wheelchair — he is currently raising funds to purchase a new automobile lift to transport it from home to college.
These tasks prove most difficult for families that house individuals with OI: costs of treatments are not fully subsidized by the government and yet are crucial to the basic standards of life that people often take for granted. With governments diverting their attention (and funds) to the stars and other ambitious fields, they eventually grow somewhat blind to those who have yet to make the first step. “That’s one small step for a man, one giant leap for mankind,” was the phrase that reverberated around the world following Neil Armstrong’s first stride on the moon. Yet for individuals suffering OI with mobility-inhibiting symptoms, the act of walking itself symbolizes the next major step towards providing themselves with what society may claim to be an “ordinary life.” Children and adults with OI are classified as disabled, and they have their eyes fixed not on just the lunar or extraterrestrial goals of mankind, but also on the basic footsteps on Earth.
It is important to note that this dichotomy of disability and normal, however, proves dangerous. For Simon, understanding world events, having conversations with friends, and being an active student is motivationally ordinary. The friction against public participation often lies with the costs underlying supportive devices such as wheelchairs and electronic aids. The awareness of OI’s separation from mental and thought-bearing processes is critical to providing individuals suffering with the condition the feeling of being more welcome in society. A personal narrative proves effective here: Simon recounts that people often presume that his physical stature correlates with his IQ or mental strength. The proof that his condition does not directly hurt his willingness to participate in school and society is exhibited in his accomplishments.
It is rather disconcerting that a majority of online traffic regarding OI is directed to only two major websites: The Wishbone Foundation and The Osteogenesis Imperfecta foundation. Unlike other more well-known and common conditions, such as cancer or heart disease, individuals with OI face a major deficit in both funding for medical research and for structural assistance. Part of this phenomenon is cyclical. There is little critical investigation surrounding the current projects researching OI, and thus with less of a media hype, the condition receives frail attention from the public. This is unnerving at levels beyond just OI as well; while countless health conditions may exist, well-developed treatment is widely nonexistent due to the lack of media coverage. If OI researchers want to provide a successful treatment for the condition, the start of such a process begins with public awareness of the condition. If not, society is performing only a half-hearted effort. And for kids like Simon, a full-hearted effort is more than deserved.
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Peer Reviewed by undergraduate Arvind Raju of the University of Pennsylvania