Journal articles on the topic 'Cystic fibrosis, bronchopulmonary disease, nursing diagnosis'

Abstract This article provides an overview of the major pathologic manifestations of allergic bronchopulmonary aspergillosis; patient characteristics; clinical, radiographic, and laboratory features of the disease; and current knowledge about its pathogenesis. Although allergic bronchopulmonary aspergillosis is an infrequent complication of asthma or cystic fibrosis, recognition of this disorder is important to avoid progression of bronchiectasis and lung parenchymal damage. Clinical, laboratory, and radiographic criteria allow for diagnosis of most cases, but the pathologist may encounter clinically unsuspected or atypical cases that require morphologic confirmation.

ASTHMA AS A MASK OF ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS: DIAGNOSIS AND TREATMENT O. M. Rekalova Abstract Asthma is a heterogeneous diseases with multiple phenotypes, 5–10 % of which are associated with severe course of disease, resistant to standard therapy. Allergic bronchopulmonary aspergillosis (ABPA), being a separate disease (ICD-10: B44.9 — aspergillosis unspecified), may mimic asthma. A literature review of major statements regarding ABPA, focusing on definition, pathogenesis, diagnostic criteria, association of different forms of asthma with fungal sensitization and Th2-response, stage, radiological picture, diagnostic algorithm in asthma and cystic fibrosis, characteristics of major applicable lab tests, principles and algorithm of treatment of ABPA patients, and treatment prospects. Lung radiological data using computer modeling from patient with ABPA (clinical case) has been presented as an illustration. Key words: allergic bronchopulmonary aspergillosis (ABPA), asthma, diagnosis, treatment. Ukr. P

Allergic bronchopulmonary aspergillosis has been recognized in association with cystic fibrosis in children since 1965. Since then, however, there have been a paucity of reports of pediatric cystic fibrosis complicated by allergic bronchopulmonary aspergillosis, and, in most cases, these have been diagnosed retrospectively. A cluster of five acute cases seen during a 4-month period in a single cystic fibrosis center with a systemic illness and deterioration in respiratory status are described. In all five patients, reversible bronchoconstriction and infiltrative changes on x-ray films suggested the diagnosis. This was confirmed by the presence of (1) peripheral blood eosinophilia, (2) elevated total IgE and Aspergillus fumigatus-specific IgE, and (3) circulating serum precipitins against A fumigatus in all cases. All children tested had positive type 1 immediate hypersensitivity to skin tests for A fumigatus, in sputum eosinophilia, and Aspergillus cultured from sputum. Only three of five children were previously noted to be atopic and none had severe advanced suppurative lung disease. All children had previously received bronchodilator therapy and appropriate antibiotics. Following treatment with corticosteroids, acute symptoms and radiologic changes resolved for 1 to 5 months. To date, no children have had recurrence of their allergic bronchopulmonary aspergillosis while receiving alternate-day steroid treatment for 6 months.

The review presents the pathobiochemical and molecular mechanisms of sputum formation in patients with cystic fibrosis associated with the pathophysiological features of the disease. Statistical data on the prevalence of this pathology in the world and in the Russian Federation are presented. The mechanisms of sputum formation and disorders of the mucociliary apparatus, leading to the accumulation of viscous bronchopulmonary secret in cystic fibrosis, are considered. The principles of the relationship between the rheological properties of sputum and the formation of inflammation in the lungs with the addition of a concomitant specific microflora in the bronchopulmonary system in patients with cystic fibrosis are presented. Describes the opportunities for biochemical studies of sputum of patients with this pathology: determining the activity of enzymes (myeloperoxidase), the content of proteinase inhibitors (α2-macroglobulin and α1-antitrypsin) and proinflammatory cytokines (IL-8 and TNFa), concentrations of iron and ferriferous proteins (lactoferrin and ferritin), which makes biochemical studies of sputum available, non-invasive, quick and cost-effective method of diagnosis, which can be widely used as an auxiliary laboratory method and makes it possible to use these metabolites as diagnostic markers to assess the severity of inflammation and infection of the lower respiratory tract and predict the development of respiratory complications in patients with cystic fibrosis.

Earlier diagnosis and more effective treatments have improved both morbidity and mortality associated with cystic fibrosis, making regular school attendance a reality. School nurses have a unique opportunity to assist students with cystic fibrosis successfully manage their disease. Medical treatment for cystic fibrosis can be complex, leaving students and families in need of health consultation and support. The clinic and school nurse each brings a unique perspective to cystic fibrosis care management. Working to understanding perspectives across settings and looking for ways to collaborate through mutual planning and goal setting is an ideal way to support families and promote achievement of optimal health status for students.

Children with End Stage Lung Disease (ESLD) are part of the growing population of individuals with life-limiting conditions of childhood. These patients present with a diverse set of pulmonary, cardiovascular, neuromuscular, and developmental conditions. This paper first examines five cases of children with cystic fibrosis, bronchopulmonary dysplasia, neuromuscular disease, pulmonary hypertension, and lung transplantation from Texas Children’s Hospital. We discuss the expected clinical course of each condition, then review the integration of primary and specialized palliative care into the management of each diagnosis. This paper then reviews the management of two children with end staged lung disease at Hospital Civil de Guadalajara, providing an additional perspective for approaching palliative care in low-income countries.

Cystic fibrosis (CF), the most common autosomal-recessive genetic disease in the Caucasian population, is characterized by frequent respiratory infections and progressive lung disease. Fungal species are commonly found in patients with CF, and among them, Aspergillus fumigatus is the most frequently isolated. While bacteria, particularly Pseudomonas aeruginosa, have a well-established negative effect on CF lung disease, the impact of fungal infections remains unclear. In patients with CF, inhalation of Aspergillus conidia can cause allergic bronchopulmonary aspergillosis (ABPA), a Th2-mediated lung disease that can contribute to disease progression. Clinical features, diagnostic criteria and treatment of ABPA are still a matter of debate. Given the consequences of a late ABPA diagnosis or the risk of ABPA overdiagnosis, it is imperative that the diagnostic criteria guidelines are reviewed and standardized. Along with traditional criteria, radiological features are emerging as tools for further classification as well as novel immunological tests. Corticosteroids, itraconazole and voriconazole continue to be the bedrock of ABPA therapy, but other molecules, such as posaconazole, vitamin D, recombinant INF-γ and Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) modulators, have been showing positive results. However, few studies have been conducted recruiting CF patients, and more research is needed to improve the prevention and the classification of clinical manifestations as well as to personalize treatment. Early recognition and early treatment of fungal infections may be fundamental to prevent progression of CF disease. The aim of this narrative review is to give an update on ABPA in children with CF.

Allergic bronchopulmonary aspergillosis (ABPA) is a caused by hypersensitivity to Aspergillus spp. antigens, is the lung disease, which occurs in patients with asthma or cystic fibrosis and is characterized by poor control of background disease and development of respiratory failure. According to experts opinion the number of patients with ABPA is about four million people in the world and 175 000 persons in Russian Federation. The clinical course improvement, prevention of progression and prophylaxis of bronchiectasis depend on timely and correct diagnosis of the disease. International Society of Human and Animal Mycology (ISHAM) formed a working group «ABPA in patients with asthma» for worldwide collaboration with physicians and researchers. The working group proposed new diagnostic criteria. This report presents a clinical case of ABPA in asthmatic patient. The diagnosis is established according criteria proposed by R. Agarwal et al., 2013.

Introducción: La Fibrosis Quística (FQ) es una enfermedad hereditaria recesiva que afecta a varios órganos, fundamentalmente de los aparatos respiratorio y digestivo. La Diabetes Relacionada con la Fibrosis Quística (DRFQ) es una de sus principales complicaciones.Objetivos: Estudiar las complicaciones específicas de los pacientes pediátricos que padecen DRFQ y cómo afectan a su calidad de vida. Comparar las tasas de mortalidad de los pacientes pediátricos con FQ y con DRFQ. Poner de manifiesto la importancia del personal de enfermería en el manejo de los pacientes pediátricos con DRFQ.Metodología: Se llevó a cabo una revisión bibliográfica sistemática. Se incluyeron estudios publicados, en inglés y castellano, durante los últimos 10 años, y que analizaban una muestra de población de entre 0 y 9 años con FQ y/o DRFQ.Resultados: Se utilizaron 4 bases de datos para la búsqueda sistemática. Se analizaron 10 artículos para la resolución de los objetivos.Conclusiones: Las complicaciones que provocan la DRFQ, y los cuidados que requieren afectan a la calidad de vida de los pacientes. La progresión del diagnóstico y los tratamientos ha hecho que mejore su calidad de vida y que la diferencia de mortalidad entre los pacientes con FQ y con DRFQ se reduzca. El personal enfermero que atiende a los niños con DRFQ es un recurso de información esencial para los pacientes y sus familias. Las enfermeras deben transmitir la importancia de la adhesión a los tratamientos para conseguir una mejor calidad de vida. Introduction: Cystic Fibrosis (CF) is a hereditary recessive disease that affects several organs, mainly within the respiratory and digestive systems. Cystic Fibrosis Related Diabetes (CFRD) is one of its main complications.Objectives: To study the specific complications of pediatric patients suffering from CFRD and how they affect a patient’s quality of life. To compare the mortality rates of pediatric patients with CF and with CFRD. To highlight the importance of nurses in the management of pediatric patients with CFRD.Methodology: A systematic bibliographic review was conducted. We included studies, in English and Spanish, published over the last 10 years, which analysed a population aged between 0 and 9 years old with CF and/or CFRD.Results: Four databases were used for the systematic search. We analysed 10 articles to address the objectives.Conclusions: The complications caused by CFRD and the care that patients require affect the patient’s quality of life. Progress both with diagnosis and with treatment has improved the quality of life of patients, and has contributed to reductions in the difference between the mortality rates of patients with CF and without CFRD. Nurses who care for children with CFRD are essential as an information resource for patients and their families. Nurses must convey the importance of therapeutic adherence to achieve a better quality of life.

Abstract Background: Pediatric venous thromboembolism (VTE) is a rare but serious medical condition resulting in significant morbidity, mortality and healthcare costs. In the recent decade, the rate of general pediatric VTE has dramatically increased across all age ranges, from neonates to adolescents. This increase is likely multi-factorial, including more aggressive management of critically ill patients, improved survival of children with chronic disease and the increased use of central venous catheters (CVCs). Cystic fibrosis (CF) is a chronic, inflammatory disease process often managed with courses of intravenous antibiotics administered through CVCs, both peripherally inserted central catheters (PICC) and implantable venous ports. There are limited data documenting an increased risk of VTE in CF patients with ports. However, there are no published data on PICC line-associated VTE or overall VTE incidence specifically in the pediatric CF population. Methods: A retrospective cohort study was conducted in CF patients, ages 0 to 21 years, followed at the CF Care Center at Children's Hospital Colorado between 2003 and 2016, who were enrolled in the national CF Foundation Patient Registry. VTE cases were identified by informatics, including anticoagulation administration, documentation of VTE in radiographic reports and nursing flowsheets, and use of VTE ICD-9 and ICD-10 codes. All identified cases were confirmed by manual chart review and data including personal and family history of VTE, use of prophylaxis and VTE type, diagnosis date, diagnostic modality and line-association were entered into a secured REDCap longitudinal database. Data including CF mutation, CF co-morbidities, microbiology history, pulmonary function testing, disease modifying medications, thrombophilia testing and central line specifications and duration were collected for every admission on all study participants to allow for future risk factor analysis. Results: The cohort consisted of 488 participants with a total of 2,590 admissions (mean 5.34 per participant, range 1-56). Two hundred and forty-nine individuals were male (51%) and the majority were Caucasian (463, 95.3%) with a normal BMI (average 19.7, range 14.8-25.4). A total of 1,157 CVCs were placed over the study period including 981 PICCs (84.8%), 93 ports (8%) and 83 unspecified (7.2%). Thirty-one VTEs were diagnosed in 23 participants (4.3%) on 29 admissions (1.12%). Twelve of the 23 participants with VTE were male (52%) and the average age of those with VTE was 15.3 years (range 4-21). Twenty-two of the VTEs were deep vein thromboses, including 4 pulmonary emboli, and 9 were in superficial veins. The average day of VTE diagnosis was hospital day 4.9 (range 0-14). At the time of diagnosis, 11 had ports, 15 had PICCs and 5 had no CVC. The majority of VTEs were associated with the CVC (19, 61.3%) and of those CVC-associated VTEs, the majority were seen with PICCs (14, 73.7%). On average, PICC-associated VTE occurred on line day 5.2 (range 2-14) and port-associated VTE occurred on line day 897.5 (range 37-1496). Of the 23 participants with VTE, 14 were tested for Factor V Leiden mutation and 2 were heterozygous. Similarly, for the prothrombin mutation, 13 were tested and two were heterozygous. While the majority of participants had minimal to no thrombophilia evaluation, notably, an elevated factor VIII was associated with 11 of 12 VTE diagnoses (91.7%, average 215.47, range 61-341.3). Conclusion: In this large pediatric cohort of patients with CF, there was an increased number of VTE when compared to previously published general pediatric populations. Consistent with known risk factors, the average participant with VTE was in their teenage years and had a CVC, although 16% occurred without a line in place. Gender and obesity did not appear to contribute dramatically as the male/female distribution was roughly equal and the average BMI was within normal range. If a CVC was placed, the vast majority of CF patients received PICCs. PICCs also made up the majority of CVC-associated VTE with the average thrombosis occurring on day 5 following line placement. Few participants with VTE had complete thrombophilia evaluations but of those that did, factor VIII was elevated in all but one individual. Disclosures Wang: HEMA Biologics: Membership on an entity's Board of Directors or advisory committees; CSL Behring: Membership on an entity's Board of Directors or advisory committees; Baxalta: Membership on an entity's Board of Directors or advisory committees; LFB: Membership on an entity's Board of Directors or advisory committees; Biogen: Membership on an entity's Board of Directors or advisory committees; Novo Nordisk: Membership on an entity's Board of Directors or advisory committees.

Our method was used to clarify the possibilities of diagnostic in case of cystic fibrosis and the installation of a computer tomography place in a diagnostic algorithm. Consequently we have analyzed the results of cases of 5 patients at the age from 19 to 25 years with the diagnosis of cystic fibrosis confirmed by sweat samples and genetic investigations. From September 2017 to 2018, the patients were placed in the infection epidemic department No. 2 of Oleksandrivskiy Clinical Hospital die to complications of the main disease. The patients were in the group of middle and high level of severity, respiratory failure II, III stages. These patients were dynamically examined by digital radiography of the chest cavity organs “Radrex” by Toshiba. All of the patients were united by an young age, asthenic and low nutrition body structure, short stature and prolonged anamnesis from early childhood, anamnesis of respiratory diseases, acute respiratory viral infections, bronchitis, sinusitis of the maxillary antrum. It was proved that the results obtained by radiography are typical for CF, but not specific, as well as they could be found in other diffuse lung diseases. After multispiral Computer tomography scan, we have found the main symptoms of cystic fibrosis, such as: total systemic damage of bronchopulmonary structures, two-sides character of pulmonary bronchiectasis . The presence of pronounced dilation of the bronchi of all orders, at least 200% of the original size, with a consolidation and thickening of their walls: a symptom of "ring" and the symptom of "paired strips" and filling of abruptly dilated bronchi of all calibers with a viscous secretion and as a result of this the mucous plugs are formed. Conclusion. The results of the X-ray examination are typical for CF and not specific, as well as for other diffuse pulmonary diseases. Computer tomography can be used for diagnostics of thin structurally functional particles characteristic for cystic fibrosis. It has also been established that the expression of morphological changes of cystic fibrosis are increased with the age of the patients. CT scan is the most useful for the detection morphological and functional changes for cystic fibrosis. Moreover, the CT scan is able to improve the early diagnoses for lungs pathology among the adolescent and the adults, and decrease the period of expectation of the result of the treatment.

Abstract The paper contains structure analysis of the lower respiratory tract recurrent disease in 180 children aged one to five years, residents of Odessa, who were treated in pulmonology department of Children’s Academician BJ Reznik City Clinical Hospital. The examinees are represented by two groups: 150 children with recurrent wheezing and 30 - with recurrent pneumonia. The selection criteria were: abnormality of central nervous system, abnormality, cystic fibrosis, congenital heart defects, tuberculosis, human immunodeficiency virus-infection. The analysis detected that in the survey sample with recurrent lower respiratory tract disease 3.88% of children had Orphan disease. Thus in the group of children with recurrent wheezing were diagnosed 2 cases of congenital lobar hyperexpansion (ORPHA 1928), one case of lung bronchogenic cyst (ORPHA 2357), one case of pulmonary hypoplasia in the lower lobe of the left lung (ORPHA 2257), and one case of primary ciliary dyskinesia (ORPHA 98,861). Regarding the entire structure of recurrent wheezing, most frequently was detected atopic asthma (49.33%). In 24.6% cases the cause of recurrent wheezing was associated with the otolaryngological pathology. Bronchopulmonary dysplasia was diagnosed in two children. Recurrent pneumonia cases were differentiated if the localization of process was at the same or different places. When one-sided localization of pneumonia was established, next congenital airway malformations were diagnosed - 3 cases of congenital cystic adenomatoid malformations (type I). Genetic pathology often occurred in cases with different lesions location. In all cases of uncertain diagnosis, predictors of recurrent lower respiratory tract diseases were revealed.

ObjectivesChest CT is increasingly used to monitor disease progression in children with cystic fibrosis (CF) but there is no national guideline regarding its use. Our objective was to assess the indications for undertaking chest CT and the protocols used to obtain scans.Design, Setting and participantsAn electronic questionnaire was developed to assess clinicians views on chest CT in children with CF. It included general questions on perceived benefits and specific questions about its role in five clinical scenarios. It was sent to the clinical lead in 27 UK paediatric CF centres. A separate questionnaire was developed to collect the technical details of chest CT in children with CF. It was sent to the superintendent radiographer at each of the 27 centres.ResultsResponses were obtained from 27 (100%) clinical leads and 22 (81%) superintendent radiographers. 93% clinicians reported chest CT useful in monitoring disease progression and 70% said it frequently altered management. Only 5 (19%) undertook routine scans. To aid diagnosis, 81% performed chest CT in non-tuberculous mycobacterial disease and 15% in allergic bronchopulmonary aspergillosis. There was wide variation in the perceived need for and/or timing of chest CT in children with reduced lung function with no benefit from intravenous antibiotics, new cystic changes on chest X-ray, and lobar collapse. The radiographers reported using a mixture of helical (volumetric) and axial scans depending on the clinical question, the age and the cooperation of the child. When indicated, 6 (27%) used sedation and 16 (73%) general anaesthetic. Only 1 (5%) used intravenous contrast routinely and 3 (14%) obtained expiratory images routinely.ConclusionsThere is marked variation in the use of chest CT in children with CF and in the scan protocols. The lack of a national guideline is likely to be contributing to this lack of standardisation.

<strong>Introduction:</strong> Long-term home oxygen therapy is indicated for patients with chronic hypoxemia. We intend to describe pediatric population on long-term home oxygen therapy followed-up at Pediatric Respiratory Unit of a tertiary care hospital between 2003-2012 and to compare with previous 1991-2000 review; to verify conformity with international and national recommendations and need for specific pediatric national guidelines, non-existent in Portugal.<br /><strong>Material and Methods:</strong> Retrospective, descriptive and comparative study based on clinical files review. Review the guidelines for oxygen therapy in pediatric population.<br /><strong>Results:</strong> We studied 86 patients (59.3% males). The median age at the beginning of oxygen therapy was 0.0 (0.0-216.0) months, with a median duration of 15.0 (3.0-223.0) months. The most frequent diagnosis was bronchopulmonary dysplasia (53.5%), followed by bronchiolitis obliterans (14.0%), neurologic disorders (10.5%), cystic fibrosis (8.1%), miscellaneous syndromes (5.8%), sickle-cell disease (3.5%), other neonatal lung diseases (2.3%) and interstitial lung diseases (2.3%). Are maintained on follow-up 53 (61.6%) patients, 38 on oxygen therapy; 12 (13.9%) died. The median time of follow-up was 39.5 (1.0-246.0) months, minim on other neonatal lung diseases and maximum on cystic fibrosis. Comparing with previous review, this shows a relative increase in bronchiolitis obliterans and bronchopulmonary dysplasia patients, with increased duration in the latter, and inclusion of neurologic and hematologic patients.<br /><strong>Discussion:</strong> Prescription of long-term oxygen therapy in pediatric age mainly occurs in specific diseases of infants and pre-school aged. Neurologic and hematologic patients represent new indications, similarly to international publications.<br /><strong>Conclusion:</strong> The knowledge of national reality and pediatric orientations are needed for care plans and rational prescription.<br /><strong>Keywords:</strong> Child; Long-Term Care; Respiratory Insufficiency; Oxygen Inhalation Therapy; Portugal.

According to Maslow's theory, clear air is the highest priority which hierarchical human needs for maintaining the vitality of the human. İndividuals can not maintain the respiratory function effectively any reason (such as chronic obstructive pulmonary disease (COPD), lung cancer, pneumonia, tuberculosis, asthma and cystic fibrosis disease) that cause unabling to fulfill task of these constructions. From the report of the Global Burden of the Diseases that is updated in 2010 by World Health Organization, within non-communicable (chronic) diseases; chronic respiratory diseases, cardiovascular diseases, cancers and diabetes are the biggest killer which cause estimated 35 million deaths every year. In addition to these data, the cause of deaths rank in the world, COPD is fourth. Also in this report, the cause of death in the ranking for the year 2030, COPD is expected to rise to third place (WHO, 2010). Developments in technology and health care allow early diagnosis of diseases and optimal treatment application in case of illness. Long-term oxygen therapy is the most commonly used method for espiratory diseases. So, for a high quality nursing care that provide by nurses, it is important that nurses be aware of basic concepts of oxygen therapy, methods of application and possible complications. ÖzetMaslow’ un teorisine göre, insan gereksinimleri hiyerarşik sıralamasında insanın canlılığını sürdürebilmesi için en öncelikli karşılaması gereken gereksinimi temiz havadır. Herhangi bir nedenle bu yapılar görevini yerine getiremediği durumlarda (Kronik Obstrüktif Akciğer Hastalığı (KOAH), akciğer kanseri, pnomöni, tüberküloz, astım ve kistik fibrozis gibi hastalıklar) bireyler solunum sistemi fonksiyonunu etkin bir şekilde sürdüremez. Dünya Sağlık Örgütü’nün (DSÖ), 2010 yılında güncellediği Hastalıkların Küresel Yükü başlıklı raporunda bulaşıcı olmayan (kronik) hastalıkların içinde kronik solunum yolu hastalıkları, kalp damar hastalıkları, kanserler ve diyabet ile beraber dünyanın en büyük katilleri olup, her yıl tahminen 35 milyon ölüme neden olmaktadır. Bu verilere ek olarak, dünyada ölüm nedeni sıralamasında solunum sistemi hastalıklarından, KOAH dördüncü sırada yer almaktadır. Ayrıca bu raporda, 2030 yılı için öngörülen ölüm nedeni sıralamasında, KOAH’ın üçüncü sıraya yükseleceği tahmin edilmektedir (DSÖ, 2010). Teknolojide ve sağlık alanında ki gelişmeler, hastalıklara erken tanı koymasına ve hastalık durumunda en uygun tedavi yöntemini uygulamasına olanak sağlamaktadır. KOAH’da en sık kullanılan tedavi yöntemi uuzun süreli oksijen tedavisidir. Bu nedenle hemşirelerin kaliteli bir hemşirelik bakımı vermeleri için, oksijen tedavisinin temel kavramlarını, uygulama yöntemlerini, gelişebilecek komplikasyonları bilmesi önemlidir.

OBJECTIVES: To review the epidemiology of community acquired, nursing home acquired and nosocomial pneumonia in terms of clinical. bacteriological and radiological features and to examine the spectrum of and response to antimicrobial agents used in its management.DESIGN: A retrospective review of all hospital records with pneumonia coded in the discharge diagnoses over a five-year period from April 1987 to March 1993.SETTING: University-affiliated, community-based hospital with a mixed primary to tertiary referral base.PATIENT SELECTION: Patients included in the study were all patients with a diagnosis of pneumonia as identified by computer records of diagnostic codes of all discharges: patients with a specific diagnosis of Pneumocystis carinii pneumonia were excluded. One thousand seven hundred and eighty-two patients out of 74.435 discharges over the five-year period met the inclusion criteria.RESULTS: The initial 1300 of the 1782 cases of pneumonia are included in this interim report. Mean age was 65 years (range 16 to 103) wilh 60% men and 40% women. Sixty-two percent of all cases were community acquired, 29% were hospital acquired and 9% were nursing home acquired. One thousand two hundred and sixty (97%) patients had al least one concomitant medical condition. mainly cardiac disease. alcoholism and chronic obstructive lung disease. Chest roentgenogram was abnormal in 98%. Cultures of sputum, bronchoalveolar lavage fluid, blood and/or serology revealed positive results in 785. The most common pathogens were Streptococcus pneumoniae (154). Haemophilus influenzae (147). Staphylococcus aureus (111) and Pseudomonas aeruginosa (100). In the group with community acquired pneumonia, S pneumoniae and H influenzae predominated. In the hospital acquired pneumonia group S aureus and P aeruginosa were more common. although S pneumoniae remains a significant pathogen. In the nursing home acquired pneumonia group. Gram-negative agents were the most common. The pattern of antimicrobial agents used, usually begun empirically when culture results are pending. showed that the majority of patients was treated with combination antibiotics for both Gram-positive and Gram-negative coverage. Ceftriaxone was usually prescribed with either erythromycin or clindamycin. In about half the patients. the ceftriaxone dose was 1 g per clay. Ninety-six (7%) patients developed complications of pneumonia and 207 (16%) patients required intensive care unit admission. Nine hundred and fifty-nine (73%) patients were cured or improved at time of discharge, 21 ( 1.5%) patients discharged themselves against medical advice and 320 (25%) patients died during admission to hospital, of whom 165 cases had pneumonia listed as a cause on the death certificate.CONCLUSIONS: Pneumonia remains a significant illness with high morbidity and mortality. Those affected and requiring hospitalization are elderly and ill. The most common pathogens overall continue to be S pneumoniae and H influenzae, although Gram-negative organisms and S aureus were also significant agents in nosocomial and nursing home acquired pneumonia. The high percentage of Gram-negative infections in the community acquired group has not been previously described and may represent a change in the pattern of pathogens affecting this group. Three of the 53 community acquired cases in whom P aeruginosa was implicated were detected on blood cultures and were definitely pathogens. Ten of the 53 patients had underlying bronchiectasis or cystic fibrosis and one patient had a history of hematogenous malignancy. Whether the finding of P aeruginosa represents true pathogenicity or colonization in the 53 cases is difficult to differentiate in a retrospective fashion. However. all but two received antibiotic therapy. and 10 of the 40 survivors in this subgroup received adequate coverage for pseudomonas. Although yield from routine investigations is only 60% (785 of 1300 patients in this study), cultures of blood and sputum should be sent in all patients as it may help to narrow choice of antimicrobial agents and aid in oral step-down selection . Only in select patients should serum serology and more costly and invasive procedures such as bronchoscopy and thoracocentesis be done. It appears that the current pattern of antimicrobial use is appropriate for management of pneumonia given the pattern of offending organisms seen. In the present study, pragmatic use of ceftriaxone at 1 g/24h in these sick patients appeared to result in a therapeutic outcome similar to other antibiotic combination therapy.

Currently, the diagnosis of chronic bronchitis as an independent nosological form in children is being improved. This direction provides for the differentiation of chronic bronchitis from other bronchopulmonary diseases occurring with bronchitis syndrome. It is known that chronic bronchitis is a constant companion of bronchiectasis, primary ciliary dyskinesia and its main form - Kartagener's syndrome, and is also one of the manifestations of cystic fibrosis. The viciousness of the development of the bronchopulmonary system (aplasia, hypoplasia of the lungs, Mounier-Kuhn syndrome, Williams-Campbell syndrome, polycystic lung disease, bronchial branching anomalies), as a rule, predisposes to the formation of chronic bronchitis.

Aspergillus fumigatus (Af) frequently colonizes the respiratory tract of patients with cystic fibrosis (CF). Af is associated with loss of pulmonary function and allergic bronchopulmonary aspergillosis (ABPA), a hypersensitivity fungal lung disease. Environmental factors have impact on CF patients’ lung function variation. The aim of this nationwide questionnaire survey was to investigate the amount of CF patients with frequent pet contact including pet species and to examine the potential impact of frequent pet contact on the occurrence of Af colonization and ABPA diagnosis in these patients. The survey was carried out in 31 German CF centers in 2018. A total of 1232 who completed the surveys were included, and statistical analysis was performed by chi-squared test. Within the study cohort 49.8% of subjects (n = 614; CF patients &lt; 18years: 49.4%, n = 234; ≥ 18years: 50.1%, n = 380) reported frequent contact to pets, of which 60.7% reported frequent contact to dogs, 42.3% to cats and other animals. Of those with frequent pet contact, 71.8% (n = 441) had contact to one pet or more pets from the same family. Af colonization was not significantly associated with frequent pet contact. ABPA diagnosis was documented in 16.7% (n = 206) of all included CF patients and was significantly associated with frequent pet contact (18.9%, n = 116, p = 0.042), confirming previous single center examinations. Particularly, patients with frequent contact to dogs showed an increased ABPA prevalence of 21.3%. Frequent pet contact might be a risk factor for ABPA. CF patients who are sensitized to Af should be informed about the increased risk to develop an ABPA by frequent pet contact. Patients with recurrent onset of ABPA should be evaluated in terms of frequent pet contact.

BackgroundRespiratory infection with nontuberculous mycobacteria (NTM) in children with cystic fibrosis (CF) has increased in prevalence. The condition is difficult to diagnose and treatments are complex with limited evidence to guide practice. This study describes the approaches to diagnosis, management and consequences of treatment in a multicentre cohort of children with CF in the UK.MethodsRetrospective data were collected from 11 CF specialist centres from patients less than 17 years old, treated for NTM infection between 2006 and 2017. Descriptive statistics were used to describe the clinical characteristics of children treated. Treatment regimens, adverse events and success of treatment, with respect to lung function and culture conversion, were evaluated.ResultsData from 70 patients treated for NTM pulmonary disease were collated (60 Mycobacterium abscessus complex (MABSC); 10 M. avium complex (MAC)). Older age and previous diagnosis of allergic bronchopulmonary aspergillosis were all significantly associated with NTM. There was a wide variance in drug choice and side effects were reported with all agents. NTM eradication occurred in 80% of patients with MAC and 48% with MABSC, with variable outcomes on lung function.ConclusionsDiagnosis and treatment of NTM infection in children with CF is challenging. Treatment success is not guaranteed, particularly for MABSC. Large clinical trials are urgently required to evaluate treatment regimes and their suitability and efficacy in children.

Abstract Background Allergic bronchopulmonary aspergillosis (ABPA) is a bronchopulmonary disease caused by a complex hypersensitivity to Aspergillus and is usually associated with underlying respiratory diseases such as asthma or cystic fibrosis. Mucus plugging can lead to segmental or lobar atelectasis, but complete lung atelectasis has been exceptionally reported in the literature, making it difficult to diagnose. The diagnosis of ABPA may however be suggested in patients without known predisposing respiratory disorder, even in the absence of other relevant radiographic findings. Case presentation We report five cases of total unilateral lung collapse secondary to ABPA in 70–81-year-old women. Two of them had a past history of ABPA, while total unilateral lung collapse was the first sign of the disease in the other three patients, contributing to the initial misdiagnosis. Flexible bronchoscopy was initially performed to remove mucus plugs from the obstructed airways but was inefficient in four cases. Corticosteroid and/or antifungal treatment was needed. Conclusion ABPA can cause total unilateral lung collapse even in patients without known underlying chronic respiratory disease, making the diagnosis difficult. Flexible bronchoscopy should be considered when lung collapse is associated with respiratory distress but corticosteroids are the mainstay treatment for ABPA.

Objective: Williams-Campbell syndrome (WCS) is a rare congenital disorder, which leads to bronchiectasis affecting fourth to sixth order of bronchial divisions. Symptoms include cough, sputum, wheeze and recurrent pulmonary infections, classically seen in the pediatric age group with selective bronchiectasis of the mid-order bronchioles. The literature describing diagnosis of Williams-Campbell syndrome in adult population is very sparse. Methods: This report presents a 62-year-old female with cough, fever, dyspnea and generalized body ache. She has had multiple admissions to the hospital since her childhood due to recurrent lower respiratory tract infections. Imaging findings demonstrated multiple cystic thin walled airways, compatible with bronchiectatic changes in the upper, middle and lower lobes bilaterally, bronchial wall thickening with air-fluid levels prominent in the fifth and sixth generation bronchial divisions, with normal caliber trachea and central bronchi. These radiologic findings are consistent with diagnosis of Williams-Campbell syndrome, which was diagnosed after ruling out the other common causes of bronchiectasis. Conclusion: Williams-Campbell syndrome is a rare congenital cystic lung disease, the diagnosis of which is made by exclusion of common causes of bronchiectasis such as cystic fibrosis, allergic bronchopulmonary aspergillosis, tuberculosis, dyskinetic cilia syndrome and alpha-1 antitrypsin deficiency. Whenever the clinical picture is consistent with bronchiectasis, especially involving the mid-order bronchioles and recurrent pulmonary infections, it is wise to include WCS in the list of differential diagnoses, even in the adult population.

BackgroundIn Cystic Fibrosis (CF), the airways are often colonized by opportunistic fungi. The most frequently detected mold is Aspergillus fumigatus (Af). Af diseases are associated with significant morbidity and mortality. The most common clinical picture caused by Af is allergic bronchopulmonary aspergillosis (ABPA), triggered by an immunological reaction against Af. Af bronchitis and invasive aspergillosis rarely occur in CF as a result of spore colonization and germination. Since pulmonary mycoses and exacerbations by other pathogens overlap in clinical, radiological, and immunological characteristics, diagnosis still remains a challenge. The search for reliable, widely available biomarkers for Af diseases is therefore still an important task today.ObjectivesAf-specific IgG m3 is broadly available. Sensitivity and specificity data are contradictory and differ depending on the study population. In our prospective study on pulmonary Af diseases in CF, we determined specific IgG m3 in order to test its suitability as a biomarker for acute Af diseases and as a follow-up parameter.MethodsIn this prospective single center study, 109 patients with CF were screened from 2016 to 2019 for Af-associated diseases. According to diagnostic criteria, they were divided into four groups (control, bronchitis, ABPA, pneumonia). The groups were compared with respect to the level of Af-specific IgG (ImmunoCAP Gm3). We performed a receiver operating characteristic (ROC) curve analysis to determine cut-off, sensitivity and specificity. Twenty-one patients could be enrolled for a follow-up examination.ResultsOf the 109 patients, 36 were classified as acute Af-disease (Af bronchitis, ABPA, Af pneumonia). Of these, 21 patients completed follow up-screening. The median Af-specific Gm3 was higher in the acute Af-disease groups. There was a significant difference in Af-specific IgG m3 compared to the control group without acute Af-disease. Overall, there was a large interindividual distribution of Gm3. A cut-off value of 78.05 mg/L for Gm3 was calculated to discriminate controls and patients with ABPA/pneumonia with a specificity of 75% and a sensitivity of 74.6%. The follow up examination of 21 patients showed a decrease of Gm3 in most patients without statistical significance due to the small number of follow up patients.ConclusionAf specific IgG may be a useful biomarker for acute ABPA and Af pneumonia, but not for Af bronchitis in CF. However, due to the large interindividual variability of Gm3, it should only be interpreted alongside other biomarkers. Therefore, due to its broad availability, it could be suitable as a biomarker for ABPA and Af pneumonia in CF, if the results can be supported by a larger multicenter cohort.

Background: Children with Bronchopulmonary dysplasia (BPD) have increased incidence of respiratory illness, often necessitating Pediatric ICU admission. Little is known about the outcome of these admissions. Aim: This study aimed to determine clinical and demographic data of this cohort and determine factors affecting mortality and length of ICU stay. Oxygen requirement following a year after ICU admission was determined. Methods: Retrospective case-note review was performed. Patients with congenital cardiac abnormalities or chronic respiratory conditions like cystic fibrosis were excluded. Data were presented as descriptive statistics. Predictors of death and LOS were determined using Fisher’s exact test and univariate regression analyses. Results: Small numbers of deaths prohibited strong conclusions. Inotrope use (p<0.001), blood transfusion (p<0.001), use of inhaled nitric oxide (p=0.003) and a diagnosis of sepsis (p=0.004) were related to mortality. Age at admission, gestational age at birth, weight, oxygen requirement prior to admission or length of stay did not increase the odds of mortality. Inotrope usage (p=0.027), transfusion requirements (p=0.044) and a sepsis diagnosis (p=0.005) were significantly associated with length of ICU stay >7 days. More than half the patients, who were followed up, had an oxygen requirement at 6-month and 12-month follow up. Conclusion: Patients admitted with chronic lung disease to PICU with pulmonary hypertension and sepsis has long ICU stay and more odds of dying. More than half of the children who survive to 6-month and 12-month follow up have ongoing oxygen requirement. Studies in larger populations of children with BPD will help in more accurate prognostication following PICU admission.

There are days when having a child with Down syndrome can mean losing all hope of being an ordinary mother: a mother with run of the mill concerns, a mother with run of the mill routines. I know. I’ve had such days. I’ve also found that sharing these feelings with other mothers, even those who have a child with a disability, isn’t always easy. Or straightforward. In part I believe my difficulty sharing my experience with other mothers is because the motherhood issues surrounding the birth of a child with Down syndrome are qualitatively different to those experienced by mothers who give birth to children with other disabilities. Disabilities such as autism or cerebral palsy. The mother who has a child with autism or cerebral palsy is usually viewed as a victim - as having had no choice – of life having dealt her a cruel blow. There are after all no prenatal tests that can currently pick up these defects. That she may not see herself as a victim or her child as a victim often goes unreported, instead in the eyes of the popular media to give birth to a child with a disability is seen as a personal tragedy – a story of suffering and endurance. In other words disability is to be avoided if at all possible and women are expected to take advantage of the advances in reproductive medicine – to choose a genetically correct pregnancy – thus improving their lives and the lives of their offspring. Within this context it is not surprising then that the mother of a child with Down syndrome is likely to be seen as having brought the suffering on herself – of having had choices – tests such as amniocentesis and CVS – but of having failed to take control, failed to prevent the suffering of her child. But how informative are tests such as pre-implantation diagnosis, CVS or amniocentesis? How meaningful? More importantly, how safe is it to assume lives are being improved? Could it be, for example, that some lives are now harder rather than easier? As one mother who has grappled with the issues surrounding prenatal testing and disability I would like to share with you our family’s experience and hopefully illuminate some of the more complex and troubling issues these technological advances have the capacity to create. Fraser’s Pregnancy I fell pregnant with Fraser in 1995 at the age of thirty-seven. I was already the mother of a fifteen-month old and just as I had during his pregnancy – I took the routine maternal serum alpha-fetoprotein blood screen for chromosomal abnormalities at sixteen weeks. It showed I was at high risk of having a child with Down syndrome. However as I’d had a similarly high-risk reading in my first pregnancy I wasn’t particularly worried. The risk with Fraser appeared slightly higher, but other than knowing we would have to find time to see the genetic counsellor again, I didn’t dwell on it. As it happened Christopher and I sat in the same office with the same counsellor and once again listened to the risks. A normal foetus, as you both know, has 46 chromosomes in each cell. But given your high AFP reading Fiona, there is a significant risk that instead of 46 there could be 47 chromosomes in each cell. Each cell could be carrying an extra copy of chromosome 21. And as you both know, she continued her voice deepening; Trisomy 21 is associated with mild to severe intellectual disability. It also increases the risk of childhood leukaemia; certain cardiac disorders and is associated with other genetic disorders such as Hirschsprung’s disease. We listened and just as we’d done the first time – decided to have a coffee in the hospital café. This time for some reason the tone was different, this time we could feel the high-octane spiel, feel the pressure pound through our bodies, pulsate through our veins – we should take the test, we should take the test, we should take the test. We were, were we not, intelligent, well-educated and responsible human beings? Surely we could understand the need to invade, the need to extract a sample of amniotic fluid? Surely there were no ifs and buts this time? Surely we realised we had been very lucky with our first pregnancy; surely we understood the need for certainty; for reliable and accurate information this time? We did and we didn’t. We knew for example, that even if we ruled out the possibility of Down syndrome there was no guarantee our baby would be normal. We’d done our research. We knew that of all the children born with an intellectual disability only twenty five percent have a parentally detectable chromosomal disorder such as Down syndrome. In other words, the majority of mothers who give birth to a child with an intellectual disability will have received perfectly normal, utterly reassuring amniocentesis results. They will have put themselves at risk and will have been rewarded with good results. They will have been expecting a baby they could cherish, a baby they could feel proud of – a baby they could love. Our Decision Should we relent this time? Should we accept the professional advice? We talked and we talked. We knew if we agreed to the amniocentesis it would only rule out Down syndrome – or a less common chromosomal disorder such as Trisomy 18 or Trisomy 13. But little else. Four thousand other known birth defects would still remain. Defects such as attention deficit disorder, cleft lip, cleft palate, clubfoot, congenital cardiac disorder, cystic fibrosis, epilepsy, ... would not magically disappear by agreeing to the test. Neither would the possibility of giving birth to a child with autism or cerebral palsy. Or a child with vision, hearing or speech impairment. Neurological problems, skin problems or behavioural difficulties... We were however strongly aware the drive to have a normal child was expected of us. That we were making our decision at a time when social and economic imperatives dictated that we should want the best. The best partner, the best career, the best house ... the best baby. I had already agreed to a blood test and an ultrasound, so why not an amniocentesis? Why stop now? Why not proceed with a test most women over the age of thirty-five consider essential? What was wrong with me? Put simply, the test didn’t engage me. It seemed too specific. Too focused. Plus there was also a far larger obstacle. I knew if I agreed to the test and the words chromosomal disorder were to appear – a certain set of assumptions, an as yet unspoken trajectory would swiftly emerge. And I wasn’t sure I would be able to follow its course. Beyond the Test I knew if the test results came back positive I would be expected to terminate immediately. To abort my affected foetus. The fact I could find it difficult to fall pregnant again after the termination or that any future foetus may also be affected by a birth defect would make little difference. Out the four thousand known birth defects it would be considered imperative not to proceed with this particular one. And following on from that logic it would be assumed that the how – the business of termination – would be of little importance to me given the perceived gravity of the situation. I would want to solve the problem by removing it. No matter what. Before the procedure (as it would be referred to) the staff would want to reassure me, would want to comfort me – and in soothing voices tell me that yes; yes of course this procedure is in your best interests. You and your baby shouldn’t be made to suffer, not now or ever. You’re doing the right thing, they would reassure me, you are. But what would be left as unsaid would be the unavoidable realities of termination. On the elected day, during what would be the twenty-second week of my pregnancy, I would have to consent to the induction of labour. Simultaneously, I would also be expected to consent to a foetal intra-cardiac injection of potassium chloride to ensure the delivery of a dead baby. I would be advised to give birth to a dead baby because it would be considered better if I didn’t hear the baby cry. Better if I didn’t see the tiny creature breathe. Or try to breathe. The staff would also prefer I consent, would prefer I minimised everyone else’s distress. Then after the event I would be left alone. Left alone to my own devices. Left alone with no baby. I would be promised a tiny set of foot and handprints as a memento of my once vibrant pregnancy. And expected to be grateful, to be thankful, for the successful elimination of a pending disaster. But while I knew the staff would mean well, would believe they were doing the right thing for me, I knew it wasn’t the road for me. That I just couldn’t do it. We spent considerably longer in the hospital café the second time. And even though we tried to keep things light, we were both subdued. Both tense. My risk of having a baby with Down syndrome had come back as 1:120. Yes it was slightly higher than my first pregnancy (1:150), but did it mean anything? Our conversation was full of bumps and long winding trails. My Sister’s Experience of Disability Perhaps the prospect of having a child with Down syndrome didn’t terrify me because my sister had a disability. Not that we ever really referred to it as such, it was only ever Alison’s epilepsy. And although it was uncontrollable for most of her childhood, my mother tried to make her life as normal as possible. She was allowed to ride a bike, climb trees and swim. But it wasn’t easy for my mother because even though she wanted my sister to live a normal life there were no support services. Only a somewhat pessimistic neurologist. No one made the link between my sister’s declining school performance and her epilepsy. That she would lose the thread of a conversation because of a brief petit mal, a brief moment when she wouldn’t know what was going on. Or that repeated grand mal seizures took away her capacity for abstract thought and made her more and more concrete in her thinking. But despite the lack of support my mother worked long and hard to bring up a daughter who could hold down a full time job and live independently. She refused to let her use her epilepsy as an excuse. So much so that even today I still find it difficult to say my sister had a disability. I didn’t grow up with the word and my sister herself rarely used it to describe herself. Not surprisingly she went into the field herself working at first as a residential worker in a special school for disabled children and later as a rehabilitation counsellor for the Royal Blind Society. Premature Babies I couldn’t understand why a baby with Down syndrome was something to be avoided at all costs while a baby who was born prematurely and likely to emerge from the labour-intensive incubator process with severe life-long disabilities was cherished, welcomed and saved no matter what the expense. Other than being normal to begin with – where was the difference? Perhaps it was the possibility the premature baby might emerge unscathed. That hope remained. That there was a real possibility the intense and expensive process of saving the baby might not cause any damage. Whereas with Down syndrome the damage was done. The damage was known. I don’t know. Perhaps even with Down syndrome I felt there could be hope. Hope that the child might only be mildly intellectually disabled. Might not experience any of the serious medical complications. And that new and innovative treatments would be discovered in their lifetime. I just couldn’t accept the conventional wisdom. Couldn’t accept the need to test. And after approaching the decision from this angle, that angle and every other angle we could think of we both felt there was little more to say. And returned to our genetic counsellor. The Pressure to Conform Welcome back, she smiled. I’d like to introduce you to Dr M. I nodded politely in the doctor’s direction while immediately trying to discern if Christopher felt as caught off guard as I did. You’ll be pleased to know Dr M can perform the test today, she informed us. Dr M nodded and reached out to shake my hand. It’s a bit of a squeeze, she told me, but I can fit you in at around four. And don’t worry; she reassured me, that’s what we’re here for. I was shocked the heavy artillery had been called in. The pressure to conform, the pressure to say yes had been dramatically heightened by the presence of a doctor in the room. I could also sense the two women wanted to talk to me alone. That they wanted to talk woman to woman, that they thought if they could get me on my own I would agree, I would understand. That it must be the male who was the stumbling block. The problem. But I could also tell they were unsure; Christopher was after all a doctor, a member of the medical profession, one of them. Surely, they reasoned, surely he must understand why I must take the test. I didn’t want to talk to them alone. In part, because I felt the decision was as much Christopher’s as it was mine. Perhaps a little more mine, but one I wanted to make together. And much to their dismay I declined both the talk and the amniocentesis. Well, if you change your mind we’re here the counsellor reassured me. I nodded and as I left I made a point of looking each woman in the eye while shaking her hand firmly. Thank you, but no thank you, I reassured them. I wanted the baby I’d felt kick. I wanted him or her no matter what. After that day the whole issue pretty much faded, in part because soon after I developed a heart problem, a tachycardia and was fairly restricted in what I could do. I worried about the baby but more because of the medication I had to take rather than any genetic issue to do with its well being. The Birth Despite my heart condition the birth went well. And I was able to labour naturally with little intervention. I knew however, that all was not right. My first glimmer of recognition happened as I was giving birth to Fraser. He didn't push against me, he didn't thrust apart the walls of my birth canal, didn’t cause me to feel as though I was about to splinter. He was soft and floppy. Yet while I can tell you I knew something was wrong, knew instinctively – at another level I didn't have a clue. So I waited. Waited for his Apgar score. Waited to hear what the standard assessment of newborn viability would reveal. How the individual scores for activity (muscle tone), pulse (heart rate), grimace (reflex response), appearance (colour) and respiration (breathing) would add up. I knew the purpose of the Apgar test was to determine quickly whether or not Fraser needed immediate medical care – with scores below 3 generally regarded as critically low, 4 to 6 fairly low, and over 7 generally normal. Fraser scored 8 immediately after birth and 9 five minutes later. His markers of viability were fine. However all was not fine and within minutes he received a tentative diagnosis – whispers and murmurs placing a virtual sticker on his forehead. Whispers and murmurs immediately setting him apart from the normal neonate. Whispers and murmurs of concern. He was not a baby they wanted anything to do with – an experience they wanted anything to do with. In a very matter of fact voice the midwife asked me if I had had an amniocentesis. I said no, and thankfully because I was still feeling the effects of the gas, the bluntness and insensitivity of her question didn't hit me. To tell the truth it didn't hit me until years later. At the time it registered as a negative and intrusive question – certainly not the sort you want to be answering moments after giving birth – in the midst of a time that should be about the celebration of a new life. And while I can remember how much I disliked the tenor of her voice, disliked the objectifying of my son, I too had already begun a process of defining, of recognising. I had already noted he was floppy and too red. But I guess the real moment of recognition came when he was handed to me and as a way of making conversation I suggested to Christopher our baby had downsy little eyes. At the time Christopher didn’t respond. And I remember feeling slightly miffed. But it wasn’t until years later that I realised his silence had been not because he hadn’t wanted to chat but because at that moment he’d let his dread, fear and sadness of what I was suggesting go straight over my head. Unconsciously though – even then – I knew my son had Down syndrome, but I couldn't take it in, couldn't feel my way there, I needed time. But time is rarely an option in hospital and the paediatrician (who we knew from the birth of our first son) was paged immediately. Disability and the Medical Paradigm From the perspective of the medical staff I was holding a neonate who was displaying some of the 50 signs and symptoms suggestive of Trisomy 21. Of Down syndrome. I too could see them as I remembered bits and pieces from my 1970s nursing text Whaley and Wong. Remembered a list that now seems so de-personalised, so harsh and objectifying. Flat faceSmall headFlat bridge of the noseSmaller than normal, low-set noseSmall mouth, causing the tongue to stick out and look unusually largeUpward slanting eyesExtra folds of skin at the inside corner of each eyeRounded cheeksSmall, misshapened earsSmall, wide handsA deep crease across the center of each palmA malformed fifth fingerA wide space between the big and second toesUnusual creases on the soles of the feetOverly-flexible joints (as in people who are double-jointed)Shorter than normal height Christopher and I awaited the arrival of the paediatrician without the benefits of privacy, only able to guess at what the other was thinking. We only had the briefest of moments alone when they transferred me to my room and Christopher was able to tell me that the staff thought our son had what I had blurted out. I remember being totally devastated and searching his face, trying to gauge how he felt. But there was no time for us to talk because as soon as he had uttered the words Down syndrome the paediatrician entered the room and it was immediately apparent he perceived our birth outcome a disaster. You’re both professionals he said, you both know what we are thinking. But he couldn’t bring himself to say the words, say Down syndrome, and instead went on about the need for chromosomal testing and the likelihood of a positive result. The gist, the message about our son was that while he would walk, might even talk, he would never cook, never understand danger and never live independently, never, never, never... Fraser was only an hour or so old and he’d already been judged, already been found wanting. Creating Fraser’s Cultural Identity The staff wanted me to accept his diagnosis and prognosis. I on the other hand wanted to de-medicalise the way in which his existence was being shaped. I didn’t want to know right then and there about the disability services to which I would be entitled, the possible medical complications I might face. And in a small attempt to create a different kind of space, a social space that could afford my son an identity that wasn’t focused on his genetic make-up, I requested it not be assumed by the staff that he had Down syndrome until the results of the blood tests were known – knowing full well they wouldn’t be available until after I’d left hospital. Over the next few days Fraser had to spend some time in the neonatal intensive care unit because of an unrelated medical problem. His initial redness turning out to be a symptom of polycythemia (too many red blood cells). And in many ways this helped me to become his mother – to concentrate on looking after him in the same way you would any sick baby. Yet while I was deeply confident I was also deeply ashamed. Deeply ashamed I had given birth to a baby with a flaw, a defect. And processing the emotions was made doubly difficult because I felt many people thought I should have had prenatal testing – that it was my choice to have Fraser and therefore my fault, my problem. Fortunately however these feelings of dejection were equally matched by a passionate belief he belonged in our family, and that if he could belong and be included in our lives then there was no reason why he couldn’t be included in the lives of others. How Prenatal Testing Shapes Our Lives It is now twelve years since I gave birth to Fraser yet even today talking about our lives can still mean having to talk about the test – having to explain why I didn’t agree to an amniocentesis. Usually this is fairly straightforward, and fairly painless, but not always. Women have and still do openly challenge my decision. Why didn’t I take control? Aren’t I a feminist? What sort of a message do I think I am sending to younger women? Initially, I wasn’t able to fathom how anyone could perceive the issue as being so simple – take test, no Down syndrome. And it wasn’t until I saw the film Gattaca in 1997 that I began to understand how it could seem such a straightforward issue. Gattaca explores a world in which genetic discrimination has been taken to its logical conclusion – a world in which babies are screened at birth and labeled as either valids or in-valids according to their DNA status. Valids have every opportunity open to them while in-valids can only do menial work. It is a culture in which pre-implantation screening and prenatal testing are considered givens. Essential. And to challenge such discrimination foolish – however in the film the main character Vincent does just that and despite his in-valid status and its inherent obstacles he achieves his dream of becoming an astronaut. The film is essentially a thriller – Vincent at all times at risk of his true DNA status being revealed. The fear and loathing of imperfection is palpable. For me the tone of the film was a revelation and for the first time I could see my decision through the eyes of others. Feel the shock and horror of what must appear an irrational and irresponsible decision. Understand how if I am not either religious or anti-abortion – my objection must seem all the more strange. The film made it clear to me that if you don’t question the genes as destiny paradigm, the disability as suffering paradigm then you probably won’t think to question the prenatal tests are routine and essential paradigm. That you will simply accept the conventional medical wisdom – that certain genetic configurations are not only avoidable, but best avoided. Paradoxically, this understanding has made mothering Fraser, including Fraser easier and more enjoyable. Because I understand the grounds on which he was to have been excluded and how out of tune I am with the conventional thinking surrounding pregnancy and disability – I am so much freer to mother and to feel proud of my son. I Would Like to Share with You What Fraser Can Do He canget dressed (as long as the clothes are already turned the right side out and have no buttons!) understand most of what mum and dad sayplay with his brothers on the computermake a cup of coffee for mumfasten his own seatbeltwait in the car line with his brothersswim in the surf and catch waves on his boogie boardcompete in the school swimming carnivaldraw for hours at a time (you can see his art if you click here) Heis the first child with Down syndrome to attend his schoolloves the Simpsons, Futurama and Star Wars begs mum or dad to take him to the DVD store on the weekendsloves sausages, Coke and salmon rissottoenjoys life is always in the now Having fun with Photo Booth His brothers Aidan and Harrison Brotherly Love – a photo taken by Persia (right) and exhibited in Local Eyes. It also appeared in The Fitz Files (Sun-Herald 30 Mar. 2008) What Excites Me Today as a Mother I love that there is now hope. That there is not just hope of a new test, a reliable non-invasive prenatal test, but hope regarding novel treatments – of medications that may assist children with Down syndrome with speech and memory. And an increasingly vocal minority who want to talk about how including children in mainstream schools enhances their development, how children with Down syndrome can, can, can … like Persia and Tyler for example. That perhaps in the not too distant future there will be a change in the way Down syndrome is perceived – that if Fraser can, if our family can – then perhaps mothering a child with Down syndrome will be considered culturally acceptable. That the nexus between genetics and destiny will be weakened in the sense of needing to choose one foetus over another, but strengthened by using genetic understandings to enhance and assist the lives of all individuals no matter what their genetic make-up. And perhaps one day Down syndrome will be considered a condition with which you can conceive. Can imagine. Can live. And not an experience to be avoided at all costs.