The medical community is right to be proud of its many achievements, most recently in decisively turning the tide against the COVID-19 pandemic that has afflicted the world since the start of the decade. Advancements in the laboratory, especially genetic testing, allow newborns to be diagnosed with hereditary illnesses, increasing their chance of getting better treatment early.
There always seems to be a hive of expectations surrounding the birth of a child, especially if the child is highly likely to inherit a genetic condition. The parents are usually well-informed by their physician about the probability of their child inheriting a particular condition. This allows the parents to plan for all eventualities.
In this article, we will focus squarely on cystic fibrosis. Cystic fibrosis is a genetic disease for which there is still no cure. Patients with cystic fibrosis are unable to produce mucus, sweat, and digestive fluids normally. Hence, conditions such as lung infections, for example, are a recurring problem for them.
Before the advent of genetic testing, many genetic diseases only manifested later after childbirth. In ancient times, one of the first signs of cystic fibrosis was “excessively salty sweat.” This symptom is usually noticed by mothers or nurses when coming into close physical proximity to the child. Without the necessary medical tests to confirm the diagnosis of this disease, parents and caregivers are left with the one and only option: wait and see.
Read more about cystic fibrosis etiology
In fact, excessively salty sweat is a rather accurate predictor of cystic fibrosis. Without the multidisciplinary management of cystic fibrosis that we have today, the parents and the caregivers of the child would be advised that frequent illnesses are likely to occur, and so is early mortality.
To Know or Not to Know?
With the availability of genetic testing, patients suspected of inheriting cystic fibrosis can expect to receive a conclusive diagnosis. Cystic fibrosis has been studied for decades, so although a cure remains elusive, there are many treatment protocols in place, refined again and again through the years. Doctors generally know how to manage and monitor cystic fibrosis; if the patient has a manageable phenotype and is willing to follow medical advice, he or she can expect to live a mostly normal life.
Knowing this, should parents and patients feel a sense of relief at getting the diagnosis? When a diagnosis is confirmed, precautions can be taken, checkups will be scheduled, and the research world, confident that a cure is within touching distance, will continue to redouble its efforts to unlock new therapeutic possibilities.
In Clinical Child and Family Psychology Review, Kimball and colleagues examined the mental health effects of a cystic fibrosis diagnosis among children and their parents. Far from feeling at ease in knowing that cystic fibrosis is a commonly managed disease (in certain parts of the world), it is the unknown, the uncertainty of what other cards fate could hold, and the certainty of more hospital visits that cause children and parents to experience clinically significant anxiety and depression.
Read more about cystic fibrosis treatment
Kimball et al studied the prevalence of anxiety among children with cystic fibrosis and their parents, as well as how anxiety in one individual can impact the mental health of another. They discovered that parents and caregivers, especially mothers, are very likely to experience anxiety. In addition, they found that parent anxiety and child anxiety are closely linked.
They also discovered that there are only limited resources in terms of exploring mental health among children. They recommended, “We need to see well-conducted studies that clarify the relationships between anxiety and sensitive measures of clinical health outcomes.”
Addressing the Issue
In Current Opinion in Pulmonary Medicine, Havermans and Willem studied the best way to prevent anxiety and depression among children and parents with cystic fibrosis. They wrote, “Cystic fibrosis and anxiety and depression are interrelated, with cystic fibrosis potentially triggering symptoms of anxiety and depression and vice versa.”
And mental health issues among children with cystic fibrosis and their parents are not a rare occurrence. In recent years, the rising rate of anxiety and depression among patients with CF has been well-documented.
Havermans and Willem proposed a number of solutions to support patients with CF and their families. For example, physicians can educate the patient and his or her caregiver on how to understand cystic fibrosis and the simple steps that can be taken to help everyone cope better. Patients and their parents should be aware of the mental health services available should the need arise.
Havermans and Willem also discovered that “patients with [cystic fibrosis] may benefit from preventive interventions that promote positive mental health by enhancing coping and problem-solving skills and fostering hope and optimism.” In other words, advocating for values like resilience and hope to be pushed to the very forefront.
In addition, children with cystic fibrosis should have access to physical activity that is appropriate for their age and ability. A robust network of social services should also be present to help parents get through rough patches of the disease.
Cystic fibrosis is a lifelong disease, so everyone involved, from parent to caregiver to clinician, should be prepared for the long term: the follow-ups, the hospitalizations, the adaptation to new treatments recently made available, and so on. With a bit of kindness and tenacity, we can do our part in helping children with cystic fibrosis and their parents live lives that are as close to normal as possible.
Kimball H, Douglas T, Sanders M, Cobham VE. Anxiety in children with cystic fibrosis and their parents: a systematic review. Clin Child Fam Psychol Rev. 2021;24(2):370-390. doi:10.1007/s10567-021-00345-5
Havermans T, Willem L. Prevention of anxiety and depression in cystic fibrosis. Curr Opin Pulm Med. 2019;25(6):654-659. doi:10.1097/MCP.0000000000000617