Early is Never Early Enough with Cystic Fibrosis

2009-12-09 | |
Last updated: 2009-12-09

When we get a cold and it lingers too long, a common complication that many of us will experience is some form of bacterial infection such as pneumonia or bronchitis and more often than not, this will require us to use an antibiotic for treatment. While these infections can be dangerous, for most people in good health, the antibiotics, when used correctly, will do their job and have us on the road to recovery in short order. Unfortunately, such ease of recovery is not an option for everyone.

For those born with Cystic Fibrosis (CF), frequent lung infections are an all too common complication of the disease that ultimately contributes to low life expectancy. Though CF affects the entire body in areas ranging from sweat production to secretion of digestive fluids, its main impact on the health of those with the condition is the creation of thick mucus in the lungs that contributes to frequent lung infection and the attack of lung tissue by the immune system.

The tragic result of the condition is that typical life expectancy for those with CF ranges from the mid 30s to the mid 50s. At the same time, the quality of life for those with the condition is often quite poor. Given an option, few people would inflict this sort of life on their children.

As a genetic condition, Cystic Fibrosis affects roughly 70,000 people worldwide and some 30,000 in the US alone and is considered the most common inherited condition that leads to death. It is a condition that mostly affects those of Northern European ancestry, and in that population as many as 5% of people are symptom-free carriers of the defective gene that contributes to development of the condition. Only when both parents are carriers of the genetic defect is there the 25% chance that the child will develop the disease.

In recent years, possibly as a result of screening offered to prospective parents, the rate of Cystic Fibrosis in children has decreased. In Massachusetts, the University of Massachusetts found that the number of children born with the disease in the state had decreased by 50% between 1999 and 2006. This is very good news, but has not yet been attributed to screening programs so further research is required to understand the reason.

Based on such apparent successes and a desire to prevent suffering, a study published in the Medical Journal of Australia also advocates that all couples in the country be offered screening to determine their risk and allow them to make educated choices regarding their plans for children. Given the poor quality of life that those with the condition may face, such screening seems to be a good preventative option.

However, even though screening does limit the numbers of children born with the condition, unfortunately detecting at-risk parents has not reached 100% accuracy because there are more than 1500 known mutations to the gene that can lead to development of the disease which makes detection of all possible defects very difficult. Additionally, couples with known risks will sometimes take the risk only to have their child born with the disease. As a result, prevention of births is obviously not the only effort that is required.

For those children born with CF, achieving the best quality of life requires that they be diagnosed early and given treatment. This limits problems in development that can occur without early treatment. To that end, as of mid 2009, all of the US states now have laws in place to ensure that newborns will be screened for CF by 2010. The intent of such laws is to ensure that these children have appropriate nutrition, develop well mentally and have the best possible lung functioning so that they have a better chance at life and will spend less of it in hospitals. Such news certainly indicates we are moving in the right direction for minimizing suffering.

From both of these prevention approaches, we can see the potential to reduce suffering that is currently possible with our knowledge of Cystic Fibrosis. As a condition with potentially severe effects on the quality of life and shortened life expectancy, screening does seem a worthy goal. However, being one of the first conditions for which screening will be performed across the population, we, as a society, will undoubtedly have much to learn from the exercise and will potentially face ethical decisions as a result. Here’s hoping that the ethical decisions are minimal and the benefits enormous.

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