VIDA LAB by Rowan Albritton
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respiratory

Cystic Fibrosis

A genetic disease causing thick mucus buildup in the lungs and digestive system, leading to infections and digestive problems.

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In this report
  1. Overview
  2. Symptoms
  3. Diagnosis
  4. Treatments
  5. Medical Resources
  6. Your Care Plan

Overview

Cystic fibrosis (CF) is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe. It is caused by mutations in the CFTR gene, which produces a protein that regulates the flow of salt and fluids in and out of cells. In CF, this protein doesn't function properly, causing thick, sticky mucus to build up in the lungs, pancreas, and other organs.

The thick mucus traps bacteria, leading to frequent and increasingly severe lung infections. It also blocks digestive enzymes from reaching the intestine, causing malnutrition and poor growth. CF affects about 30,000 people in the United States and is most common in people of Northern European descent.

Historically, CF was a childhood disease with very limited life expectancy. Today, thanks to new treatments — particularly CFTR modulators that address the underlying protein defect — many people with CF are living into their 40s, 50s, and beyond. Early diagnosis (through newborn screening) and treatment at specialized CF centers has dramatically improved outcomes.

Symptoms

  • Persistent cough with thick mucus (sputum)
  • Frequent lung infections (pneumonia, bronchitis)
  • Wheezing and shortness of breath
  • Poor growth and weight gain (failure to thrive in children)
  • Greasy, bulky, foul-smelling stools
  • Difficulty absorbing nutrients (malabsorption)
  • Salty-tasting skin
  • Nasal polyps
  • Male infertility
  • Dehydration and heat intolerance

Diagnosis

  1. Newborn screening — most cases are detected through routine newborn screening blood tests
  2. Sweat chloride test — the gold standard; elevated chloride levels confirm CF
  3. Genetic testing — identifies specific CFTR mutations; important for treatment (CFTR modulators are mutation-specific)
  4. Pulmonary function tests — to assess lung function
  5. Sputum cultures — to identify infections
  6. Pancreatic function tests — to assess exocrine pancreatic insufficiency

A CF specialist at an accredited CF center makes the diagnosis.

Treatments

  • Airway clearance therapies — chest physiotherapy, vibrating vests, positive expiratory pressure devices; help clear mucus
  • Inhaled medications — bronchodilators, mucolytics (dornase alfa, hypertonic saline), inhaled antibiotics
  • CFTR modulators — ivacaftor, lumacaftor/ivacaftor, elexacaftor/tezacaftor/ivacaftor (Trikafta); address the underlying protein defect; life-changing for many patients
  • Pancreatic enzyme replacement — capsules taken with meals to aid digestion
  • Nutritional support — high-calorie, high-protein diet; vitamin supplements; feeding tube if needed
  • Antibiotics — oral, inhaled, or IV for lung infections
  • Diabetes management — CF-related diabetes is common; insulin may be needed
  • Lung transplant — for end-stage lung disease
  • Regular monitoring — lung function, nutrition, infections at a CF care center

Your Care Plan

A step-by-step guide to navigating your condition, from finding the right doctors to advocating for the care you deserve.

Step 1: Doctors to See

Start with: Your pediatrician if your child has recurrent infections or failure to thrive.

Then seek: A CF specialist at an accredited CF care center.

Build your team:

  • Pulmonologist (CF specialist) — for lung management
  • Gastroenterologist — for digestive issues
  • Endocrinologist — for CF-related diabetes
  • Respiratory therapist — for airway clearance
  • Registered dietitian — for nutrition
  • Social worker — for support and resources
  • Mental health professional — for emotional support

Step 2: Advocate for Yourself

If your child has recurrent lung infections, poor growth, or salty skin, ask about CF testing — even if no family history. If you or your child has CF, make sure you're being seen at an accredited CF care center — specialized care dramatically improves outcomes. Ask about CFTR modulators — these new medications address the underlying defect and can be life-changing, but they're mutation-specific, so genetic testing is essential. Don't skip airway clearance — it's tedious but critical for lung health.

Step 3: Your Action Plan

  1. If your child has recurrent lung infections or failure to thrive, ask about CF testing.
  2. Get a sweat chloride test for diagnosis.
  3. Get genetic testing to identify specific mutations.
  4. See a CF specialist at an accredited CF center.
  5. Start airway clearance and medications immediately.
  6. Discuss CFTR modulator therapy — it can be life-changing.
  7. Maintain high-calorie, high-protein nutrition.
  8. Establish regular follow-up at a CF center.

Important: This report is educational information, not medical advice. Always consult a qualified healthcare professional for diagnosis and treatment decisions.

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