Author | Amy Hall | Feb. 24 2020
The Importance of Rare Disease Awareness: Economic, Physical and Personal Impacts
Amy Hall
Dr Frank J. Hayden Secondary School
Western National Scholarship Program Essay
February 14, 2020
One in twelve Canadians has a rare disease (“The Changing Landscape,” 2019). This means over three million Canadians suffer from one of the 7,000 most uncommon known medical conditions (“The cost of treating,” 2016). Despite the fact that more people know someone impacted by a rare disease than Canadians who suffer from Cancer and AIDs combined, rare diseases receive little attention making research and support scarce (Danese & Lippi, 2018). This lack of awareness worsens the economic, physical, and personal impacts rare diseases have on the Canadian population and our health care system as a whole. Overall, more awareness surrounding rare diseases is required in order to resolve the economic, physical, and personal effects of these conditions.
Rare diseases have a profound economic impact on the Canadian health care system. On average it costs between 300,000 and one million dollars per year to treat one patient with a rare disease (“The cost of treating,” 2016). This means the Canadian government spends almost 25% of their 228 billion dollar healthcare budget on rare disease management (“Canadian Institute,” 2016). This cost is a result of the medical support needed to aid those suffering. An individual with a complex rare condition requires multiple specialists, continuous monitoring, medical tests, medications, and other treatments in order to lead a normal life. On top of this, it takes around 4.8 years from the onset of symptoms for a patient to receive a proper diagnosis of a rare disease (Shire, 2016). During this time individuals see over seven physicians and complete hundreds of medical tests (Shire, 2016). More awareness surrounding rare diseases and their symptoms would allow for quicker detection--reducing the amount of money spent on medical tests. Additionally, more awareness of rare diseases would lead to further research and the development of cheaper therapies. Currently, only 5% of rare diseases have government approved treatments (“Rare Disease by the Numbers,” 2018). Increasing the number of treatments would eliminate the need for symptom management medications and decrease the cost spent per person living with a rare condition. Overall, this reduced spending caused by greater knowledge of rare diseases would help reduce the amount of money spent on patients with a rare disease, ultimately decreasing the overall health care budget, reducing taxes, and eliminating provincial debt.
Secondly, greater awareness about rare diseases is required to decrease the physical consequences they have on Canadians. Due to the frequency of which each rare disease occurs, most medical professionals are unaware of the signs these conditions present. Most often symptoms are ignored or thought to be caused by more common conditions. This lack of knowledge surrounding uncommon illnesses causes high rates of misdiagnosis for patients. 40% of rare disease sufferers report being misdiagnosed at least once during the average 4.8 years taken to receive a diagnosis (Shire, 2015). These exorbitant time frames lead to inappropriate patient management and disease progression. As a result, and most tragically, 30% of patients with rare diseases die before the age of five (Shire, 2016). However, this issue is not unique to rare disease patients. In fact, in Canada the third highest cause of death is medical malpractice (Weeks, C. 2017). Each year 24,000 Canadians die from preventable medical errors (“Medical errors killing,” 2004). Rare disease activists are urging the Canadian government to reduce this statistic by investing in rare research. Since rare diseases are often forgotten by medical professionals, only one in twelve Canadians receive a rare diagnosis, compared to the one in seven thought to exist (Wakap et al., 2019). Consequently, many people die before the root cause of their condition can be discovered and treated. Moreover, many rare diseases can cause or are associated with other more common conditions. Through rare disease research we can identify the root cause of medical illnesses and develop more precise treatments. All in all, research into rare diseases will lead to more accurate diagnosis and treatment of all Canadians, reducing the number of preventable deaths each year.
For me, these issues are deeply personal. My name is Amy Hall and I have a rare disease. I was born at two pounds and 13 ounces with a rare genetic condition called Tuberous Sclerosis Complex (TSC). Tuberous Sclerosis Complex caused tubers to grow in vital organs throughout my body. Personally, I have tubers in my heart, kidneys, brain, and on my skin. Throughout my life my condition has and will continue to impact my physical and mental well being. First, the tubers in my brain impact my motor skills. Growing up this became evident during school and extracurricular activities as I was always behind the other children. I would need to work twice as hard to receive the same result. When I finally did a psychoeducational evaluation I discovered I was in the sixth percentile for motor skills. This came as a shock since I had never seen myself as less able than anyone else, despite my struggles in and out of the classroom. Over the years I continued to push myself and work on improving my coordination. I participated in motor skill oriented activities like soccer, figure skating, and piano, eventually falling in love with competitive dance. Additionally, the growths in my brain have led to a misdiagnosis of myoclonic epilepsy. This occured after I started having uncontrollable bursts of movement later discovered to be tics. Throughout the diagnosis process I had to undergo numerous medical tests, take multiple medications, and was unable to physically go to school. In the future I will likely experience kidney failure as the growths in my kidneys are progressive and will continue to grow with time. Currently, my kidney function is normal; however, I am on medication for high blood pressure as a result of my unhealthy kidney tissue. As well, there is a 40% chance I will develop a secondary condition called Lymphangioleiomyomatosis (LAM) which will impact my future lung function (“Tuberous Sclerosis,” n.d.). I volunteer with a charity called The Angel Project that works to support critical care patients. One initiative I was involved with focused on rare disease patients and rare disease awareness. As a result of the hard work of volunteers we were able to have the City of Burlington declare February 28th Rare Disease Day. Altogether, I am proud to have a rare disease and of all it has taught me. Without my condition I never would have discovered my love for competitive dance, the power of hard work and determination, and my passion for helping others. It is because of my condition that I have become the person I am today.
In conclusion, more awareness surrounding rare diseases is necessary in order to reduce the economic and physical impact they have on Canadians. The scarce knowledge surrounding rare conditions increases the likelihood of misdiagnosis.The cost associated with misdiagnosing patients is much greater than that of proper early detection and treatment. Misdiagnosis also leads to a lack of treatment and premature death of many Canadians. Furthermore, research into rare disease could aid in the development of treatments for more common illnesses affecting us all. Together, Canadians must raise awareness and give the current rare disease warriors a chance to grow up and become the medical professionals, researchers, lawyers, and engineers who will change the world forever.
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