About the Rare Lung Diseases Center

Each of the estimated 200 rare lung diseases affect only a small number of children. Collectively, however, they impact many children. The Rare Lung Diseases Center at Children’s Hospital of Philadelphia was created to help these children lead a fuller and longer life.

We have gathered world-renowned pulmonary specialists who excel in diagnosing and treating these children in one program to help families by providing a detailed diagnosis and personalized treatment plan and, which through its research, can identify or develop treatments that may not be available anywhere else.

What patients are appropriate for the Rare Lung Diseases Center?

Examples of patients seen in our center include children with abnormalities in surfactant metabolism and clearance, telomere length disorders, and pulmonary complications resulting from sequelae of systemic diseases including oncologic, rheumatologic, GI and immunologic disorders. We have expertise in rare lung diseases that include neuroendocrine cell hyperplasia of infancy (NEHI), Hermansky Pudlak syndrome, bronchiolitis obliterans and ataxia telangiectasia. We also specialize in children born preterm who continue to have significant lung disease beyond what would normally be expected for their age. 

Any child with a diagnosed or suspected rare lung disease is welcome to be evaluated by the center. We offer second opinion appointments within two weeks of contact, as long as necessary medical records are available to our team.

We partner with referring physicians from across the country to develop the most effective treatment plan for children under their care.

For any child with a possible genetic cause for their lung disease, we provide comprehensive genetic risk assessment through our genetic counseling services. We can then identify at-risk family members for risk assessment and genetic testing. 

Babies born prematurely and experiencing chronic lung disease (bronchopulmonary dysplasia) may benefit from the program if their lung improvement has stalled, which could be a sign of a rare disease. Preemies whose lungs continue to heal are seen in the division’s Post-preemie Lung Disease Clinic.