In medical literature, an unspoken rule appears to be that patients who are in their first few years of life are almost universally referred to as “infants,” “children,” or “neonates.” However, patients from adulthood onward are typically referred to simply as “patients,” regardless of their age. 

Why does this discrepancy exist? I propose that it is because scientists innately recognize that the care of pediatric patients fall heavily on their parents/carers, therefore, it is important that pediatricians recognize that a rare disease diagnosis in the very young is often a family matter. 

At Rare Disease Advisor, we report on rare diseases and the fact that many of them affect an increasing number of children. Sometimes, it is easy to overlook how much of a life-altering event it is for the parents as well as the child. 

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An Unprecedented Challenge 

In an article in the International Journal of Environmental Research and Public Health, Boettcher and colleagues conducted a systematic review on the quality of life of parents who have children with rare diseases. 

“Although there is increasing research on rare diseases, parents of children with rare diseases have not been examined comprehensively,” they write. 

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The premise of their study is that the heterogeneity and complexity of rare diseases do not change the fact that the burden of care affects parents and families in ways that are similar. Regardless of whether a rare disease is diagnosed early or late, or whether the prognosis is good or poor, parents find themselves having to navigate a world for which they may be entirely unprepared. 

Boettcher and colleagues’ systematic review covers a vast range of disease areas, including chromosomal disorders (such as Down syndrome), congenital diseases (such as spina bifida), hematological diseases (such as hemophilia), inflammatory diseases (such as cystic fibrosis), metabolic disorders (such as galactosemia), musculoskeletal diseases (such as achondroplasia), and neuromuscular diseases (such as Duchenne muscular dystrophy). 

Their findings demonstrate that affected parents have a poorer quality of life compared with parents whose children do not have a rare disease. Factors that lower quality of life include limited social contacts and family interactions as a result of the need to care for their child. 

“The results of the quantitative studies reported here and the theoretical models make it clear that interventions should follow a family-centered approach including individual sessions with the family members,” they concluded. 

There are a few practical ways to achieve this. One is to provide parents with adequate information regarding the rare disease that their child has been diagnosed with. In addition, there should always be an offer for psychosocial support for parents who are distressed by the unexpected diagnosis of their child. 

Impact on Mental Health

In the Orphanet Journal of Rare Diseases, Kolemen and colleagues conducted a study in a similar vein, evaluating the anxiety levels of parents before and after their child receives a rare disease diagnosis. Their findings further strengthen the case for adequate psychosocial support to parents of children with rare diseases. 

Kolemen and colleagues pointed out that the diagnostic process of some rare diseases itself can be lengthy, inconclusive, and costly. This means that parents are put in an extremely uncomfortable position: having to pay for diagnostic tests that could potentially make the life of their family worse off. 

On the other hand, some diagnostic tools for rare diseases are unavailable in poorer parts of the world, meaning that physicians can suspect a rare disease but never be able to confirm it. This adds a combustible level of uncertainty into the equation, leaving parents wanting to provide care for their child but not knowing how. 

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With regard to parental anxiety levels before and after a diagnosis, the findings of this study reveal that, paradoxically, parents’ anxiety levels fall after their child receives a conclusive diagnosis. This indicates that the uncertainty of the diagnostic stage induces a considerable level of worry among parents, whereas the arrival of a diagnosis allows physicians and parents to develop a plan of action, which can be both clarifying and reassuring. 

“The importance of psychological support for the family of a chronically ill child has been underlined in studies due to the high stress, depression, and anxiety levels of parents,” Kolemen et al wrote. “For the treatment of emotional distress in chronically sick children and their parents, cognitive-behavioral and existential psychotherapy are commonly used.” 

In addition, they reported that the range of emotions experienced by parents is wider than one might expect. Aside from grief and stress, parents can experience feelings of anger, guilt, and even denial. Feelings of guilt are often expressed by parents of children diagnosed with an inherited genetic disease.

It is often said that one’s life changes drastically when one becomes a parent. It is understandably challenging for a parent to wrestle with the prospect that their child may have a short life span or struggle with lifelong disability. It is therefore incumbent upon us physicians to serve both child and parents with the utmost care and empathy. 


Boettcher J, Boettcher M, Wiegand-Grefe S, Zapf H. Being the pillar for children with rare diseases — a systematic review on parental quality of lifeInt J Environ Res Public Health. 2021;18(9):4993. doi:10.3390/ijerph18094993

Kolemen AB, Akyuz E, Toprak A, Deveci E, Yesil G. Evaluation of the parents’ anxiety levels before and after the diagnosis of their child with a rare genetic disease: the necessity of psychological support. Orphanet J Rare Dis. 2021;16(1):402. doi:10.1186/s13023-021-02046-2