Cystic Fibrosis

According to the Cystic Fibrosis Foundation, a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene prevents the CFTR protein from working correctly. The protein can't move chloride, a part of salt, to the surface of your cells. Without chloride, water doesn’t reach the cell surface. The mucus in organs like your lungs and digestive system becomes thick and sticky.

• Lungs: The mucus can clog the airways in your lungs, trapping in bad bacteria. This can lead to infections, inflammation, and other issues.
• Pancreas: The mucus buildup can prevent digestive enzymes in your stomach from digesting food properly. This can lead to malnutrition and growth problems.
• Liver: The mucus can block the bile duct, leading to liver disease.

Cystic fibrosis symptoms vary widely and may affect the lungs, digestive system, or other organs.

Respiratory Issues

• Frequent lung infections
• Prolonged cough with mucus
• Wheezing
• Shortness of breath
• Chronic sinus infections
• Nasal polyps

Digestive issues

• Constipation
• Greasy stool
• Poor growth or weight gain
• Rectal prolapse

Patients with cystic fibrosis may also experience salty skin and enlargement of the fingertips and toes. Cystic fibrosis may also lead to male infertility.

If you’re experiencing these symmptons or have a family history of cystic fibrosis, talk to your provider to discuss whether CF testing may be appropriate for you.

CF is a genetic condition, so family health history is a risk factor. CF is autosomal recessive, which means a person inherits one mutated gene from each parent. Both parents are carriers, having one mutated gene and one normal gene, but don't show CF symptoms themselves.

Because CF is inherited, it is not caused by lifestyle or environmental factors.

 As part of the diagnosis process, adult patients need a:

• Sweat test: Measures the amount of chloride in your sweat, which is typically elevated in people with CF
• Genetic or carrier test: Detects CF gene mutations
• Clinical evaluation at our Baystate Cystic Fibrosis Clinic 

Getting tested for CF early on can help you get care faster and improve your quality of life.

Newborn screening is typically done at the hospital within a few days of birth, using a heel prick. A positive screening doesn't necessarily mean the child has CF. Further testing, like the sweat test, is done to confirm a diagnosis.

Patients receive lifelong care from a team that’s specially trained in cystic fibrosis and truly committed to supporting them at every stage. Our adult cystic fibrosis clinic is located within the same building as the pediatric Cystic Fibrosis Clinic at the Baystate Children’s Specialty Center, making the transition to adult care smoother and more familiar.

We treat CF-related conditions such as:

• Cystic Fibrosis Related Diabetes
• Cystic Fibrosis Bone Disease (causes low bone density and increased fracture risk due to chronic inflammation and nutritional deficiencies)
• Malnutrition and Vitamin deficiencies
• Digestive disorders
• Depression and Anxiety
• Pulmonary Complications

As part of our comprehensive care, we offer services such as:

• CF diagnostic testing
• Comprehensive pulmonary screening and treatment
• Nutrition management, vitamin level monitoring and supplementation
• Mental health screening
• Pharmacy Coordination
• Adolescence to adulthood transitional support

Every three months, you'll meet with your care team for about an hour and a half. During your visit, we’ll check in on how you’re doing and offer personalized recommendations and treatments plans that fit your needs.

Your Baystate Health care team will include a:

• Pulmonologist: Leads your CF care, monitors lung health, and manages medications.
• Respiratory Therapist: Supports breathing treatments, airway clearance, and lung function testing.
• Dietitian: Helps with nutrition, enzyme use, and vitamin monitoring.
• Social Worker: Provides emotional support and helps with resources, insurance, and life planning.
• Nurse Coordinator: Your main point of contact for questions, scheduling, and symptom updates.
• Endocrinologist: Manages CF-related diabetes and bone health.

During business hours, patients can text our nurse coordinator through our dedicated CF phone line whenever they need updates or have questions. We also have a dedicated pharmacy liaison who’s here to help make sure you get your medications on time, when you need it.

Our team is also here to support you through life transitions, such as:

• Graduation
• Marriage
• Pregnancy and childbirth