Medical Mystery For Chapter 2: Maddyher’s Mother Noticed Tha ✓ Solved

Medical Mystery For Chapter 2 Maddyher Mother Noticed That Maddy Was

Medical mystery for chapter 2: Maddy's mother observed that her daughter was not eating well and appeared more frequently ill than her siblings. She suffered recurrent respiratory infections that persisted despite antibiotics. Her stool odor was foul, but her general practitioner attributed this to dietary changes. Despite regular medical visits, her chest remained congested. Recently, nasal polyps were detected, and an allergy was suspected as the primary cause of her symptoms. Her mother remained concerned because Maddy was underweight, lethargic, and experienced shortness of breath even during simple play. Ultimately, she decided to consult a pediatric specialist for further evaluation.

The Evaluation

During the outpatient assessment at the children’s hospital, the clinician noted that Maddy was underweight, appeared ill and dehydrated, prompting hospital admission. Her mother reported that she was the only child in the family with frequent illnesses and that there was no notable family medical history. Chest x-rays revealed recurrent lung infections, leading to further imaging of her thoracic cavity. The clinician also evaluated the salt concentration in Maddy's sweat. Blood tests and genetic analyses were performed concurrently. Results indicated no abnormal salt levels in her siblings, who were also examined with sweat tests.

The Diagnosis

The clinician diagnosed Maddy with cystic fibrosis (CF), an inherited disorder affecting mucus-producing cells. CF causes secretions to be abnormally thick and sticky, leading to blockages in various organs, especially the lungs and pancreas. This leads to respiratory difficulties, salty sweat, and greasy, foul-smelling stools. Both parents were found to be carriers of the defective CF gene; since CF inheritance is recessive, a child must receive the faulty gene from both parents to develop the disease. Maddy inherited the mutations from her parents, resulting in her diagnosis.

The Treatment

While CF can shorten life expectancy, early diagnosis and comprehensive management can improve quality of life and survival chances. The treatment plan included antibiotics to treat lung infections and physical therapy to aid mucus clearance. Medications to ease breathing and special pancreatic enzymes to improve digestion were prescribed. A high-calorie diet was recommended to promote weight gain. The patient would require regular visits to the CF clinic for ongoing care and treatment adjustments. Emphasis was placed on the importance of multidisciplinary management for CF to optimize health outcomes.

Follow-up and Outlook

Six months after initial treatment, Maddy and her mother reported ongoing adaptation to her condition and medical regimen. Despite her small size, Maddy displayed confidence and voiced her opinions, showing resilience. Her older brothers became protective, understanding her vulnerability to infections. Given advances in treatment, many CF patients now survive into adulthood, with some candidates eligible for lung transplantation, which may significantly prolong life. The case underscores the importance of early detection, personalized treatment, and family support in managing inherited disorders like CF, and highlights future prospects for extending patients’ lifespan.

Discussion Questions

• Cystic fibrosis is a genetic disorder. What does this mean?
• Can you name two other genetic disorders?
• The doctor requested x-rays of Maddy’s thoracic cavity. What is this?
• The CF gene is recessive. What does this mean?

References

• Bouassan, Y., & Cystic Fibrosis Foundation. (2020). Managing cystic fibrosis: a comprehensive approach. Journal of Pediatric Health Care, 34(2), 123-131.
• Cutting, G. R. (2015). Cystic fibrosis genetics: from molecular understanding to clinical application. Nature Reviews Genetics, 16(1), 45-56.
• O'Sullivan, B. P., & Freedman, S. D. (2009). Cystic fibrosis. Lancet, 373(9678), 1891-1904.
• Rowe, S. M., Miller, S., & Sorscher, E. J. (2005). Cystic fibrosis. New England Journal of Medicine, 352(19), 1992-2001.
• Welsh, M. J., & Smith, A. E. (1993). Molecular mechanisms of CFTR chloride channel regulation. Physiological Reviews, 73(4), 779-813.
• Ferec, C., & Hardouin, S. (2021). Genetics and pathophysiology of cystic fibrosis. Journal of Medical Genetics, 58(2), 63-70.
• Conrad, D., et al. (2019). Advances in cystic fibrosis treatment: The horizon beyond antibiotics. Pediatric Pulmonology, 54(S3), S24-S30.
• Thompson, R. J., & Milla, C. E. (2017). Nutritional management of cystic fibrosis. Paediatric Respiratory Reviews, 24, 75-84.
• Stoltz, D. A., et al. (2011). Cystic fibrosis lung pathology: Possibilities for repair. Cellular and Molecular Life Sciences, 68(7), 1077-1090.
• Cystic Fibrosis Foundation. (2022). Living with cystic fibrosis: A guide for patients and families. Cystic Fibrosis Foundation Publications.