The History of Cystic Fibrosis by Dr James Littlewood OBE

Edited and produced by Daniel Peckham

 

1966 Lawler RH, Nakielny W, Wright NA. Psychologic implications of cystic fibrosis. Canad M A J 1966; 94:1043-1046. [PubMed]
A detailed evaluation of 11 patients aged five to 17 years. Not unexpectedly extremely marked intrapsychic and interpersonal conflicts occurred in all cases. The authors considered that both children and parents required psychological treatment also the doctor-family relationships required further study.
The editor of the Year Book of Pediatrics, Sydney Gellis, felt the almost unbearable psychologic problems should be treated actively. He questioned “the support conferred by the CF Foundation which undoubtedly makes the family more knowledgeable about the condition and more capable of coping with the problems involved, but also makes parents more aware of the prognosis”. He suspected that a minister or priest would prove more helpful than a psychiatrist in assisting parents.


It was just this approach, exemplified by Gellis, that made the situation even more unbearable for the parents who usually appreciated an aggressive therapeutic approach, as adopted by paediatricians such as Shwachman, di Sant’Agnese and Leroy Matthews even if they realised that the end was inevitable. It was at the CF centres of such paediatricians that this approach resulted in a steady improvement in prognosis over the years so that median survival had increased to over 35 years by 2009 without any specific treatment to correct the basic defect being available.
So obviously Gellis (1914-2002) disliked psychiatrists as well as paediatricians who treated children with cystic fibrosis!! It is perhaps not surprising that not one of his 206 publications listed on Medline concerned cystic fibrosis. He was described as "the quintessential pediatric generalist who was not deterred by the growing army of "-ologists"!

 

1973 McCrae WM, Cull AM, Burton L, Dodge J. Cystic fibrosis. Parent’s response to the genetic basis of the disease. Lancet 1973; I: 141-143. [PubMed]
One of the early psychosocial studies by paediatricians responsible for children with CF in Edinburgh (Morris McCrae) and in Cardiff (John Dodge). Parents at the time had a poor understanding of the genetics of CF – and particularly poor instruction from the diagnosing paediatrician was common. There was no means of antenatal diagnosis at the time and 70% of families wanted no further children.


No paediatrician is exempt from occasional lapses in communication skills – the first question to Morrice McCrae after a lecture he gave to parents of CF children in Leeds was “What is a sibling?” - a term he had used frequently during the lecture! Morrice McCrae was one of the few paediatricians with a significant involvement with CF at this time and was responsible for developing the Edinburgh Paediatric CF clinic.

 

1977 Gayton WF, Friedman SB, Tavormina JF, Tucker F. Children with cystic fibrosis: I. Psychological test findings of patients, siblings, and parents. Pediatrics 1977; 59:888-894. [PubMed]
One of the early papers on the psychological aspects of cystic fibrosis. Not surprisingly, in 43 families both fathers (32%) and mothers (22%) had scores in the range suggestive of emotional disturbance - in terms of decreased family satisfaction and family adjustment. The results did not support previous estimates of an increased incidence of emotional disturbance in children with cystic fibrosis nor in siblings of affected children.

 

1981 Norman AP. Cystic Fibrosis and normality. In: Warwick WJ. 1000 Years of Cystic Fibrosis. Minnesota 1981:84-89.
A paper by Archie Norman given at a meeting of leaders of CF research and care who were invited to attended this meeting in Minnesota in 1981 organised by Dr. Warren Warwick. Dr. Archie Norman pleads for a change in attitude. “It was time we stopped talking in terms of the most lethal genetically determined disease” and always discussing topics such as the “problems of individuals expected to die in early childhood”.

 

1986 Orenstein DM, Wasserman AL. Munchausen syndrome by proxy simulating cystic fibrosis. Pediatrics 1986; 78:621-624. [PubMed]
Professor Sir Roy Meadow described Munchausen by proxy in 1977 (Meadow R. Munchausen syndrome by proxy. The hinterland of child abuse. Lancet 1977; ii: 343-345. & Meadow R. Munchausen syndrome by proxy. Arch Dis Child 1982; 57:92-98). This is the first report where CF was the falsified disorder. The mother falsified the history of her child, cunningly altered sweat tests and stool fat analyses and stole sputum from patients with CF to make her child appear to have cystic fibrosis. Previous reports of the syndrome had concerned single signs or symptoms but the present case involved the complex features of a multisystem genetic disorder.


Subsequently 11 further reports of Munchausen or Munchausen by proxy with CF of the falsified disorder appeared in the literature up to 2012.

 

1993 Walters S, Britton J, Hodson ME. Demographic and social characteristics of adults with cystic fibrosis in the United Kingdom. BMJ 1993; 306:549-552. [PubMed]
A survey of adults with CF in the UK by Dr Sarah Walters, a Birmingham doctor who herself has CF, which gave a picture of the relatively new and expanding population of adults with cystic fibrosis in the UK. 1052 adults were members of the Association of Cystic Fibrosis Adults UK, accounting for the majority of adults. Most were living fulfilling lives. 26% of men and 44% of women were married or cohabiting. 55% were working, fewer than 56% had less than two weeks' sick leave a year. Half of those not employed gave ill health as the reason. Unfortunately, revealing that they had CF at job interviews reduced the likelihood of being employed for those with mild to moderate disease. People with CF had been less successful than the general population in achieving O level or equivalent qualifications, but more successful in achieving A level or higher qualifications.
So contrary to an image of chronic ill health and disability, a high proportion of adults with CF were living full and productive lives - marked contrast to some of the earlier reports of adults with CF.


A further survey by Sarah Walters in 2000 showed considerable further improvement in many aspects of the condition and also the hospital care of the adults with CF in the UK.

 

2000 Gee L, Abbott J, Conway SP, Etherington C, Webb AK. Development of a disease specific health related quality of life measure for adults and adolescents with cystic fibrosis. Thorax 2000; 55:946-954. [PubMed]
Health related quality of life (QOL) measurement is regarded as important in determining the impact of disease on daily functioning and subsequently informing interventions. The questionnaire described here is a fully validated disease specific measure consisting of 52 items across nine domains of functioning which have been identified by, and are of importance to, adolescents and adults with cystic fibrosis.


This is a useful measure for clinical trials and longitudinal studies and QOL measurements are required by many journals where patient outcomes are featured (also Quittner AL et al. Translation and linguistic validation of a disease-specific quality of life measure for cystic fibrosis. J Pediatr Psychol 2000; 25:403-414. ).[PubMed]

 

2005 Quittner AL, Buu A, Messer MA, Modi AC, Watrous M. Development and validation of The Cystic Fibrosis Questionnaire in the United States: a health-related quality-of-life measure for cystic fibrosis. Chest 2005; 128:2347-2354. [PubMed].

The Cystic Fibrosis Questionnaire (CFQ) is a disease-specific instrument that measures health-related quality of life (HRQOL) for adolescents and adults with cystic fibrosis (CF) > or = 14 years, consisting of 44 items on 12 generic and disease-specific scales. Versions of the CFQ are also available for children with CF and their parents. This study evaluated the psychometric properties of the CFQ in a national study at 18 CF centers in the United States. The results demonstrated that the CFQ-teen/adult is a reliable and valid measure of HRQOL for individuals with CF. It may be utilized in clinical trials to assess the effects of new therapies, to document the progression of disease, and to inform clinical practice.

 

2008 Bryon M, Shearer J, Davies, H. Eating disorders and disturbance in children and adolescents with cystic fibrosis. Children's Health Care 2008; 37:67-78.
Also - Shearer JE. Bryon M. The nature and prevalence of eating disorders and eating disturbance in adolescents with cystic fibrosis. J R Soc Med 2004; 97 Suppl 44:36-42. [PubMed]

Dr Mandy Bryon is Consultant Clinical Psychologist and Joint Head of Paediatric Psychology at Great Ormond Street Hospital in London. She is a leading authority on psychological issues in children with CF and a member of the CF team at Great Ormond Street.

 

2012 Abbott J, Hurley MA, Morton AM, Conway SP. Longitudinal association between lung function and health-related quality of life in cystic fibrosis. Thorax 2012 Nov 9. [Epub ahead of print][PubMed]

The relationship between lung function and HRQoL over time is unknown. This work assesses the natural progression of HRQoL reporting over many years and compares assessments across a whole decade and evaluates the relationship between lung function and HRQoL longitudinally.

Demographic (age, gender), clinical (FEV(1)% predicted, body mass index, diabetes, Burkholderia cepacia complex, intravenous access device and nutritional status) and HRQoL (Cystic Fibrosis Quality of Life Questionnaire) variables were obtained every 2 years over a 12-year period (seven time points from 1998 to 2010). HRQoL and lung function declined slowly over time and significant decade changes were observed for FEV(1)% predicted and the nine domains of the Cystic Fibrosis Quality of Life Questionnaire. The results of random coefficient modelling indicated that, at the population level, decreasing FEV(1)% predicted was associated with decreasing HRQoL after adjusting for confounding variables. However, the percentage of patients for whom a decrease in lung function was associated with a decrease in HRQoL differed according to the quality of life domain.

HRQoL and FEV(1)% predicted decline slowly; nevertheless, a decrease in lung function predicted a decrease in HRQoL over time.