Nicholas's Story

I am a tall person of ordinary body composition, perhaps leaning on the slender side. At six foot two, I am taller than nearly 95 percent of people; however, behind my height and otherwise normal appearance I have a secret buried deep in the cellular makeup of my brain. There was a time when I was projected to be less than five feet tall. My own biology was betraying me and had nature had its way, my life would’ve been dramatically different. Thankfully, nature was overcome by the nurturing grace of modern medicine and my secret is safe to only revealed at my discretion. This is my story with isolated growth hormone deficiency and the extraordinary circumstances that lead to diagnosis at a young age.


My story with chronic disease began as it does with many, if not most people, at birth. I was born four weeks premature and just under five pounds. I largely credit my slight birth weigh to my nutrient-stealing, fraternal twin brother, who was born just minutes before me. Into our first few years of existence, he continued his triumphant victory over me in the game of life. He grew larger and stronger, while I fell further into second place. Had we been born wild animals, survival of the fittest would surely not have been in my favour. Thankfully, I was not alone. At age four, my twin brother towered over me as I had failed to grow more than a few inches in the past year. I much more closely resembled the stature my younger sister, who was nearly two years my junior. This is when my family physician became curious. Previously, common assumption had been that I would be short like my mother; however, the question had now been postulated, was there a biological reason for my short stature?


I don’t remember much of the testing; I was after all, only four years old. I remember chasing rabbits, running up and down stairs, and being scared about getting a magnetic resonance image. Unfortunately, growth hormone is difficult to accurately measure due to its pulsatile nature and my first test was inconclusive. At this point, I would not have blamed my doctors for giving up. After all, idiopathic short stature, or a failure to grow due to an unknown cause, is a fairly common diagnosis. Sadly, without an understanding of the biological mechanisms mediating a disease, there is often little opportunity for effective medical intervention. Thankfully, my doctors were persistent and I was sent to the Vancouver Children’s Hospital for revaluation. At age five, my paediatric endocrinologist and the medical staff at Vancouver Children’s Hospital discovered that my ability to produce growth hormone was severely attenuated. My parents were shocked and devastated. The mandated treatment plan was simple in theory but burdening in routine: daily subcutaneous administration of recombinant growth hormone. I needed a needle a day until at least adulthood. Unable to self-administer a shot at five years old, the sole responsibility for my treatment fell to my parents. They were taught how to prepare and administer growth hormone and were sent home with a package of needles and pharmaceuticals. This is when my diagnosis truly sunk in for my parents and they were exhausted by the reality of it. While no parent wishes chronic disease on his or her child, responsibility for your child’s own therapy is perhaps even more frightening. Fortunately, with a nurse and paramedic as parents, I was in good hands.


As far as I remember, the fear and pain associated with needles quickly subsided. My parents however remember a different story, one in which it took both of them to hold down their aggressively resisting child. Holding a sharp needle, with limbs flailing in their face, my parents do admit to calming me down with offerings of toys or candy, but they tried to keep the bribery to a minimum. Their philosophy towards my growth hormone deficiency is something that I have always been grateful for. They did not believe in handicaps or special treatment, instead they believed that I should be treated no different then any other child. Despite low bone density, short stature, and a myriad of other health risks associated with growth hormone deficiency, I was never limited in what I could do and I participated fully in all the same activities as my twin bother. While my parents were honest with other parents about my condition, they would not bring it up in conversation unless directly questioned; they did not want my growth hormone deficient reputation preceding me. I was to be known for the person that I am and not for my ability to produce a certain hormone. With an uncommon medical condition, my parents ensured that, besides the five minutes in which I received my shot, my average day was without the influence of my diagnosis. This was my routine and as far as I was concerned, there was nothing terribly unusual about it. My parent’s philosophy had facilitated a belief in me that I was not limited by my diagnosis.


In the early years of elementary school I was still very short, so much so that all the older girls adored me; I surely did not mind this. It wasn’t until after I grew over a foot in the third grade that I became aware of the social challenges that accompanied my medical condition. I wasn’t open, per se, with others about my condition, but I was honest when asked. Word spread about my growth hormone deficiency and treatment with recombinant growth hormone, a steroid, banned in athletic competitions. Many children had heard stories about enormously muscular men created by illicit growth hormone, who suffered the unfortunate side effect of less than comparable male anatomy. I quickly learned that lack of awareness and understanding leads to mockery and teasing. Furthermore, I was in pain. Growing so rapidly strains the body by tightening ligaments and tendons, forcing one into uncomfortable posture. My parents sought physical therapy for my symptoms; however, giving a young child an hour worth of daily exercises was not a solution with a high likelihood for compliance. Not to mention, rapid growth makes operating one’s body an awkward nightmare. At times I felt like a child trying to walk in their parents shoes. This was compounded by my abnormal body composition; I was the literal embodiment of the expression skin and bones, closely resembling the slender finger of ET attempting to call home. Fortunately, I would find my social and physical salvation in sports.


By age 14 I was already six feet tall, my days of being adorably short were long behind me. I had even surpassed my twin brother in height, a feat that I like to remind him of often. My parents had enrolled me in all kinds of sports throughout my life, everything from soccer and baseball to badminton. Having had my interest in athletics peaked and being so tall, I gravitated towards playing basketball. Since most of my competition was no taller than my shoulder, I quickly became a leader on my school’s team. I had a talent and for the first time my classmates looked up to me. This is who I was, an athlete, in a sport that nature had not allowed me to play but through modern medicine, had been made possible. I drew confidence from my abilities, gained strength and flexibility from my athletics, and developed friendships with my teammates that I would maintain throughout high school. My body pains were subsiding and my physical appearance resembled less and less of an extraterrestrial with every year that I played. In high school, I joined my school’s volleyball team, another sport dominated by incredibly tall athletes. The confidence I gained from sports leaked into other areas of my life, leading to social and academic success, which prepared me well for my journey beyond high school. However, unbeknownst to me, there was a new challenge that I would have to overcome in regards to my growth hormone deficiency.


Shortly after enrolling in university and beginning my undergraduate studies I became aware that I would not be able to stay on recombinant growth hormone forever. Although my endocrinologist encouraged continuation throughout adulthood, the government strongly disagreed. Medical coverage for growth hormone deficiency is only maintained until the age of 21 in British Colombia, after which, the full cost of the treatment falls upon the patient and their family. Not willing to shoulder several thousand dollars a year, my treatment was terminated after 16 years of therapy and I was left to live as a growth hormone deficient adult. I had been well informed about the potential changes that I may start to experience without exogenous growth hormone: increased fatigue, muscle loss, decreased ability to gain muscle, and increased abdominal fat. A self-fulfilling prophecy had been set in motion. Believing that I was physically limited and my athletic peak was behind me, I started exercising less and less. My muscles faded and turned into fat. My ligaments and tendons tightened causing my shoulders to round. While I remained slender, I was not happy with the person I had become. When I had the opportunity to return to the basketball court, it was often met with disappointment. I was slow and weak, unable to perform the athletic movements that had once seemed so natural. I questioned whether my regression was due to a biochemical or psychological construct created by the knowledge and expectations I held about being growth hormone deficient. I’d never know if I was truly biological challenged, but I was certainly burdened by the psychology of living with a chronic disease.


To be honest, I don’t know exactly what changed my perspective. I’m a very retrospective and introspective person, which is a nice way of saying that a like to sit and think about things probably a little more than I should; so I wish that I were able to share a secret to changing ones psychology but regrettably, I cannot. I do know that my friends and family played a key role in my reframing the way I thought about my deficiency. It is hard not to define myself as a composite of influences from chance encounters with strangers, friends, and family, most obviously, my twin brother. As a kinesiology major, he always had a passion and commitment for sports and fitness. I remember feeling terrible guilt when he’d ask me if I’d been to the gym or played sports lately because the answer was always a heavily regretted no. The friends I’d made throughout high school were also active individuals and provided me with the opportunity to join them in weekly cycling, resistance training, and hiking. For class, I wrote a research paper on how exercise could overcome the challenges I faced living with growth hormone deficiency. The paper was well received by my professor but more importantly, I truly believed what I had written. Many people experience a decline in physical activity following high school as the structure of organized sports is removed. However, it was bigger than that for me. I needed to know that despite being growth hormone deficient, I was no weaker, more easily fatigue, or less fit for athletics then anybody else. I needed to know that I was still the person I identified myself as in my teenage years, one who was physically fit and in control of their body and life. With the help of my friends and family, I have changed my psychology and I no longer think of my growth hormone deficiency as a barrier but a challenge that motivates me to work harder.


With such extraordinary circumstances leading to a diagnosis with isolated growth hormone deficiency at age five and the opportunity to undergo 16 years of therapy, I can’t help but to feel lucky. Not everybody is fortunate enough to have a nearly identical genetic copy of ones self by which to compare their growth and development; or parents that are medical professional, who reinforced a lifelong illness as a positive learning experience and a novel perspective by which to see the world, rather then a limitation. I am tremendously grateful to the medical professionals involved in my diagnosis for their persistence and attention to detail. While my journey with growth hormone deficiency continues, I feel confident that with exercise, a healthy lifestyle, and support from friends and family, I can pursue my future goals without limitation. In Canada, only one child a week is born with isolated growth hormone deficiency and because it is such an uncommon disease, most individuals are diagnosed much later in life than I was. To receive the full benefit of growth hormone replacement therapy, a deficient patient must be diagnosed five years before puberty. With such a short window for diagnosis, my hope is that by sharing my story I can encourage parents and physicians to maintain a status of curiosity, to question short stature in children, and to monitor their growth so that every child with growth hormone deficiency has the opportunity that modern medicine has provided me: To live life to the fullest and not be limited by their biology

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