For children with unusual lung disorders, the Rare Lung Diseases Program can improve and even transform their lives. The program is a unique service within the Division of Pulmonary Medicine. Under the direction of Christopher Towe MD, the program includes some of the nation’s most respected experts in lung disease. They combine knowledge of the latest treatments with findings from advanced research to their care of children with the most complex lung diseases. 

Conditions We Treat

We diagnose and care for children with the rarest types of lung disease – diseases that affect fewer than 200,000 individuals nationwide. These conditions include:

  • Interstitial lung disease (ILD)
  • Surfactant mutations
  • NEHI (neuroendocrine hyperplasia of infancy)
  • PIG (pulmonary interstitial glycogenosis)
  • Lung development disorders
  • Bronchiolitis obliterans
  • Primary ciliary dyskinesia (PCD)
  • Lymphatic disorders and other vascular malformations
  • Rheumatologic disorders
  • Chronic lung disease associated with immunodeficiency / immune dysfunction disorders and bone marrow transplantation  

Referrals to our Program

One of the primary reasons children are referred to our program is for diagnosis of a complex, chronic lung problem. Many of the patients we care for have interstitial or other rare lung diseases. Our diagnostic approaches may include the following specialties:

  • Chest HRCT − A specialized technique is essential, particularly in young children, for the best image quality and to minimize radiation dose.
    •  Alan Brody, MD, (Chief, Thoracic Imaging) is board certified in pediatrics and radiology. He holds a certificate of special qualification in pediatric radiology from the American Board of Radiology. Dr. Brody is a member of multiple national and international medical societies including senior membership in the Society for Thoracic Radiology, and membership in the Fleischner Society. Dr. Brody has been recognized as one of America’s top physicians since 2008.
  • Evaluation of pulmonary physiology: 
    • Infant Pulmonary Function Testing. We have a state of the art system for measuring lung function for infants. In addition, we have special expertise with infants who have interstitial lung disease (ILD).
    • Pulmonary function testing, including diffusion tests, lung volume tests (plethysmography) and spirometry
    • Research techniques not offered at other facilities
    • Exercise studies
    • Flexible bronchoscopy  
      •  Robert Wood, PhD, MD, is a pediatric pulmonary specialist, with particular interest in bronchoscopy. He has played a major role in the development of instrumentation and techniques for flexible bronchoscopy in pediatric patients. He is recognized as a teacher of endoscopic techniques, and has published many papers and book chapters on the subject. Additionally, he has extensive experience with clinical problems in pediatric pulmonary medicine, especially children with complex airway problems and cystic fibrosis.
  • Polysomnography
  • Surgical lung biopsy via VATS (Video-assisted thoracoscopic surgery). We have particular experience with VATS in diagnosing different forms of ILD.
  • Genetic testing – which includes whole exome sequencing

Other reasons for referral include:

  • Full range of of therapies available to treat these diseases including access to research and lung transplant
  • Our interdisciplinary approach to caring for diffuse lung diseases, including team case conferences to review diagnosis and management.
  • Our collaboration with a child’s referring physician.
  • Family centered care – an approach that keeps family informed and involved.
  • Opportunities to participate in research studies at Cincinnati Children’s and elsewhere.