Commentary and Review
Delayed Diagnosis of Cystic Fibrosis and the Family Perspective

https://doi.org/10.1016/j.jpeds.2005.08.011Get rights and content

The impact of delayed diagnosis of cystic fibrosis (CF) on families is poorly described, especially in the United States. Studies outside the United States indicate that misdiagnosis leads to increased anxiety, guilt, anger, and mistrust of the medical profession, and late diagnosis leads to more negative feelings about the pre-diagnostic period and less confidence in the medical profession. To describe the impact of delayed diagnosis on US families, diagnostic stories were requested on the CF Research, Inc, e-mail list in September 2003. Twenty diagnostic stories were returned, and 20 additional stories were found on the Cystic-L listserv dating back to 1997. Stories were condensed into that of a single family and a qualitative description of the symptoms, medical and family responses at different life stages provided, along with health and family sequelae if the diagnosis had occurred at various ages. Responses to symptoms differed by age. Families were frustrated and stressed by diagnostic incompetence. Ineffectual care led to long-term anxiety, emotional trauma, and self-doubt. Families suffered economic losses. Relationships with one another and with doctors were seriously affected. CF parents consistently expressed that newborn screening would help others avoid the pain they suffered by not knowing the diagnosis earlier.

Section snippets

Methods

Diagnostic stories were requested and retrieved from more than 20 families with children diagnosed with CF in the United States over the last 30 years through an e-mail request to approximately 350 contributors, members and program participants of the Cystic Fibrosis Research, Inc (Mountain View, Calif) in September 2003. The e-mail request asked for a several paragraph description of how the diagnosis occurred (eg, types of medical providers seen, hospitalizations experienced, and problems

Pre-Alpert

Simi gave birth to Sally after 2 years of marriage to Bill, a storeowner. Sally was breast-fed for 6 months. For the first 2 years of her life, Sally was seen routinely by her pediatrician for immunizations and for 1-2 colds per year. Her growth was close to the 50th percentile on the normal growth curves during this time. Sally started walking at 12 months and talking in short sentences at 2 years of age at the time her brother Alpert was born. Sally was a happy child, receiving a lot of care

Discussion

In weaving together this fictitious story of Alpert Humphrey and his family from true cases, an effort was made to find a middle ground in terms of severity of symptoms reported, tests conducted, misdiagnoses made, and family responses. There were certainly cases reported to us with less and also with more severe circumstances. Although we have focused on a few symptoms in each age group, it is likely that earlier reported symptoms carried on through life and became more severe. For brevity we

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Supported by a research grant for $183,000 from the Cystic Fibrosis Foundation Therapeutics, Inc. titled, “Cystic Fibrosis Mutation Frequencies among Hispanics” (Grant no. KHARRA01A0).

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