RESUMEN
Cystic Fibrosis (CF) is a rare condition among Asians and has not been reported in the Philippines as of this time. The inclusion of this disease in the Philippines' Expanded Newborn Screening Program (ENBS) has provided this Filipino family the opportunity of early detection and appropriate management of this condition that could ensure the survival of the proband and his other surviving siblings. Here we present a case of a 24-month-old male who had a positive Expanded Newborn Screening (ENBS) test for cystic fibrosis and eventually underwent further tests to confirm a homozygous deletion of exons 1 - 2 of the CFTR gene. He subsequently had recurrent pneumonia but is being managed by a team consisting of a pulmonologist, gastroenterologist, and a metabolic dietitian. The proband had an older sibling whose Newborn Screening (NBS) test was normal and who eventually expired from recurrent bouts of pneumonia. This sibling was never managed as a case of cystic fibrosis. Implications on the diagnosis and management of CF in the local setting is also discussed. The importance of an appropriate CF panel customized to the local population should be reiterated and carrier testing should be encouraged to help with proper family counseling for future pregnancies for the family involved.
RESUMEN
BACKGROUND: The phenomenon of discharge against medical advice (DAMA) among pediatric patients places pediatricians in a dilemma between respect for the parent's decision and the desire to provide complete care for the vulnerable child-patient. Little has been written about factors that affect a pediatrician's decision to allow a parent to discharge his child against medical advice. This qualitative study aims to answer the question of how pediatric residents in a tertiary government hospital perceive and decide on a DAMA request from a parent or primary caregiver. METHODS: Using a focus group discussion approach, 11 pediatric residents from a government-run tertiary hospital were recruited for the study. The session was digitally recorded and dominant themes were coded and identified. RESULTS: There were three prominent themes that arose in the discussion: variability of definitions of DAMA, factors considered before "allowing" the patient to be DAMA, and the implications of a DAMA request on their performance as pediatricians. Definitions vary from one resident to another based on the main reason for DAMA (terminal, cultural, or financial). A conflict was noted in the definition of Home per Request (HPR) versus DAMA. Factors that influence a pediatrician to sign out a case as DAMA include: their ability to do something about the reason given for the DAMA request, the condition of the patient when the DAMA request was given, their impression of the kind of care that the parents provide, and their legal liabilities. Pediatric residents generally maintain a positive attitude towards the parents who request for DAMA and in the event of readmission, accept the patient into their care again.The occurrence of a variety of definitions and subcategories for DAMA may cause confusion among the pediatricians and should be clarified. The familiarity with cultural traditions contributes to their ability to handle situations that may lead to DAMA but this should always be considered in the context of the pediatrician's legal liabilities. The attitude of being helpful in spite of readmission after DAMA is an important attribute to be encouraged among new trainees. CONCLUSION: In most reviews about the phenomenon of DAMA, patient characteristics have been identified that make them prone to request for DAMA however; physicians also experience a complex process of decision-making in DAMA situations. It is therefore vital for every training institution to include ethical, legal and moral aspects of learning into their training programs especially in dealing with cases of DAMA.