Commentary and ReviewDelayed Diagnosis of Cystic Fibrosis and the Family Perspective
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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Respiration
(2000)
Cited by (40)
Diagnosis of Cystic Fibrosis in Nonscreened Populations
2017, Journal of PediatricsLong-term follow-up of cystic fibrosis newborn screening: Psychosocial functioning of adolescents and young adults
2014, Journal of Cystic FibrosisCitation Excerpt :These findings of depressive symptoms among care-givers concur with previous research [21]. NBS for CF and other genetic conditions clearly benefits affected infants, their families, and society by preventing mortality, morbidity and “diagnostic odysseys” [45,46]. Early diagnosis of rare conditions can also enhance our understanding of and capacity to treat individuals with these conditions.
Newborn Screening Policy and Practice Issues for Nurses
2013, JOGNN - Journal of Obstetric, Gynecologic, and Neonatal NursingFabry patients' experiences with the timing of diagnosis relevant for the discussion on newborn screening
2013, Molecular Genetics and MetabolismCitation Excerpt :Until now, the opinions of FD patients have not been taken into account in studies and commentaries about screening for FD. The importance of exploring the opinions of patients and their families about the expansion of NBS programs has been demonstrated in several studies on cystic fibrosis, Duchenne's muscular dystrophy, mucopolysaccharidoses and 22q11 deletion syndrome for example [30–34]. These studies invariably indicate that patients and their parents are highly supportive of the inclusion of a disease in NBS programs.
Cystic fibrosis newborn screening does not delay the identification of cystic fibrosis in children with negative results
2011, Journal of Cystic FibrosisCitation Excerpt :All presented with typical features of CF including failure to thrive, respiratory tract infections and/or gastrointestinal complaints. In a study of diagnostic stories of 40 families where the diagnosis of CF was delayed, Kharrazi and colleagues [22] illustrate the family perspective through a single imaginary family. From this study, the authors concluded that the age at which CF is diagnosed can have a large impact on a number of facets of their life including quality of life, longevity, compliance with medical regimens and family structure.
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).