When I was a medical student, I remember sitting in during a doctor’s consultation with a patient with amyotrophic lateral sclerosis (ALS). This patient knew very well that the disease would lead to his body slowly being paralyzed until he is no longer able to breathe. Yet, in the midst of such misfortune, the patient and his family put on a brave face, were cordial with the doctor, and seemed to possess an optimistic disposition. 

Many rare diseases are incurable. This means patients have to learn to live with their disease for the rest of their lives, often with the knowledge that the prognosis is poor. 

It would be a dereliction of duty to ignore the mental and emotional toll that incurable, chronic diseases have on patients. The disease is always present, either quietly in the background, or manifesting as some form of relapse or acute exacerbation. The knowledge that a diagnosis is permanent is indeed a heavy burden to shoulder. 

To make matters worse, most genetic diseases manifest when patients are still children. Frequent illnesses and visits to healthcare facilities send them an ominous message that this routine may very well represent how things will be for the rest of their lives. 

In an editorial published in the Journal of the American Academy of Child and Adolescent Psychiatry, Sally E. Tarbell, PhD, examined the mental health toll among pediatric patients with chronic diseases. 

“Anxiety in youths with a chronic illness is associated with greater functional impairment than would be expected by either the anxiety disorder or the medical illness alone,” Dr. Tarbell wrote. “Left untreated, the significant functional impairment associated with anxiety in childhood can persist into adulthood and may compromise medical outcomes across the life span.” 

Mental Health Poorer Among Cystic Fibrosis Patients 

Kimball and colleagues conducted a systematic review of the anxiety experienced by children who have been diagnosed with cystic fibrosis. Mental health issues among patients with cystic fibrosis have gained greater attention in recent years as researchers begin to investigate in earnest the mental/emotional impact of incurable illnesses on patients’ well-being. 

Research shows that patients with cystic fibrosis have a higher prevalence of clinical anxiety and depression compared to the general population, and that poorer mental health is associated with poorer health outcomes, regardless of age. If clinical anxiety is diagnosed in young children with cystic fibrosis, they are more likely to continue to experience mental health issues into their adult years, which may lead to substance abuse or suicidal ideation. 

Read more about cystic fibrosis etiology 

It is entirely possible that the association between chronic illness and poor mental health has existed for far longer than the recent interest it has generated. Because children with cystic fibrosis are a particularly vulnerable group of patients, researchers are increasingly recommending early mental health intervention to ensure that their quality of life is preserved as much as possible. 

In their study, published in Clinical Child and Family Psychology Review, Kimball and colleagues looked at 14 studies pertaining to child and parent anxiety. They found that children with cystic fibrosis who were aged between 7 and 10 years reported higher anxiety symptoms compared to the general population. In addition, depression was also positively correlated with anxiety, meaning that if a child is diagnosed with anxiety, he or she is likely to also be diagnosed with depression.

Mental Health Effects Extend to Caregivers

Parents of children with cystic fibrosis reported feelings of anxiety as well. Two studies reported that the average anxiety among parents of children with cystic fibrosis was higher compared to the general population. Among the risk factors for parental anxiety included being a single parent, disease severity, depressive symptoms in the child, and having a partner with mental health issues.

Cystic fibrosis is itself a challenging disease to manage, let alone the mental health impact that is associated with it. So what can we do about it? Kimball et al wrote, “Screening and intervention for [cystic fibrosis]-related complications needs to begin in early childhood to make significant impacts on health outcomes, and this includes mental as well as physical health.” 

Read more about cystic fibrosis patient education

Dr. Tarbell suggested that mental health providers should be more involved in drafting guidelines for the optimal care of children with cystic fibrosis and other chronic illnesses. She recommended that pediatric psychiatrists and psychologists be given seats on committees that are tasked with developing better management guidelines for pediatric patients with chronic illnesses. 

“We can no longer allow medical care to ignore the elephant in the exam room,” Dr. Tarbell wrote. “To serve the mental health needs of children with chronic illnesses, we need to get out of our silos, both within our institutions and our disciplines, to create opportunities to address anxiety in pediatric chronic medical illnesses.” 


Tarbell SE. Editorial: anxiety in pediatric chronic illness: the elephant in the exam roomJ Am Acad Child Adolesc Psychiatry. 2020;59(5):586-587. doi:10.1016/j.jaac.2020.01.007

Kimball H, Douglas T, Sanders M, Cobham VE. Anxiety in children with cystic fibrosis and their parents: a systematic reviewClin Child Fam Psychol Rev. 2021;24(2):370-390. doi:10.1007/s10567-021-00345-5