Cystic fibrosis is the most common fatal genetically inherited disease in Canada affecting approximately 4,300 children and adults. The illness affects every patient differently and has a widespread effect on the body, but most often results in serious pulmonary and digestive complications. There is presently no cure for cystic fibrosis, and the cumulative destruction of the lungs resulting from ongoing infection eventually leads to death. Not long ago, most patients with cystic fibrosis would not live to see adulthood, much less go on to live fulfilling lives. Fortunately, thanks to medical professionals and ongoing research efforts, cystic fibrosis patients in Canada have begun to see a significant increase in life expectancy in recent years. In fact, the number of adults currently living with cystic fibrosis in Canada now outnumbers the amount of children living with it, a testament to the effectiveness of treatments now available to cystic fibrosis patients.
Cystic fibrosis is a genetic, recessive disease, meaning that a child must inherit 2 copies of an abnormal gene from their parents (1 from each). Approximately 1 in 25 people in Canada carry this abnormal gene, but because they only have one copy, do not have the disease cystic fibrosis and are called carriers. When 2 carriers have a child together, there is a 25% chance their child will have cystic fibrosis.
Currently in Ontario, cystic fibrosis is one of the diseases newborns are screened for at birth. This allows for early detection of the disease and the initiation of treatment before symptoms start, thus sparing a child from damage that would occur before detection. Prior to newborn screening implementation, cystic fibrosis was diagnosed by a sweat test that may be indicated due to the presence of a number of symptoms. These symptoms could include: persistent violent cough with sputum production, frequent pneumonia, inability to gain weight, wheezing/shortness of breath, bowel disturbances.
Managing cystic fibrosis on a daily basis is in itself a full-time job. On any given day, cystic fibrosis patients may take anywhere from 30-50 pills, largely to combat digestive and nutrition insufficiencies. Additionally, they will spend between 1-2 hours on inhaled medications and chest physiotherapy. The conditions of patients may vary and a large number of cystic fibrosis patients will undergo more vigorous treatment routines on a daily basis than others.
Cystic fibrosis patients are subjected to different treatments based on their physician’s approach to combatting symptoms. For Aaron, this included having a G-tube inserted at 15 where he is able to run approximately 1500 calories worth of nutritional supplement during his sleep. Outside of medication and treatments, the day of a cystic fibrosis patient closely mirrors what society is practicing with COVID-19 prior to the quarantine measures. Cystic fibrosis patients must remain hyper-vigilant of their environment constantly washing their hands and avoiding areas of contamination — this is in addition to closely monitoring blood sugars as a result of cystic fibrosis-related diabetes and ensuring the body is adequately fuelled nutritionally. During times of exacerbation, patients are moreover subjected to lengthy hospitalizations, measured in weeks or months, that result in lengthy absences from their everyday lives. With all of the negative impacts that cystic fibrosis may have on the lives of patients, breakthroughs in cystic fibrosis treatment and research have granted this community the opportunity to live better lives.
For more information on cystic fibrosis in Canada, please consult the Cystic Fibrosis Canada page.