A firm diagnosis can direct patients to appropriate experimental therapies or clinical trials.

Many genetic lung diseases have associated complications involving other organs that, if detected early, can be treated effectively.

Early diagnosis is important for preserving lung function. Once a diagnosis of any type of rare lung disease is confirmed, patients will be closely monitored for the development of complications, including lung infection, pneumothorax (collapsed lung), or end-stage lung disease. Earlier diagnosis, leading to earlier initiation of preventative therapies, can improve long-term lung health.

Having your relatives tested is important, even if they don’t show any signs of the disease. By discovering the same genetic mutation in a family member, we can offer treatment before their disease becomes more severe.

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