In 2010, at the age of 17, I suddenly felt a sharp, violent pain in my chest and left shoulder. I was short of breath, unable to lift my left arm or lie down. After an urgent visit to my general practitioner and several sleepless nights, I went to the emergency room, where the X-ray showed a complete spontaneous pneumothorax of my left lung. I was transferred to a larger hospital and, after a week of drainage, I underwent a pleurodesis using talc. Thirteen years later, my older brother also suffered a pneumothorax and was diagnosed with BHD. The numerous cysts in his lungs led to his diagnosis—and consequently, to mine in 2023.

When I first had my pneumothorax, I faced a lot of scepticism, even from my GP, who insinuated that I had made it all up… Another doctor prescribed antibiotics (!), and it took a lot of insistence before a chest X-ray was finally ordered. At the hospital, the staff were very puzzled to see a spontaneous pneumothorax in such a young patient. Strangely, during my entire hospital stay (12 days), no MRI was performed, and the lack of investigation into the cause of the pneumothorax delayed my diagnosis by more than 13 years.

To anyone facing difficulties during medical appointments, I recommend keeping a detailed record of test dates, results, notes from conversations, questions, and observed symptoms. This way, you can communicate openly with healthcare professionals—while ensuring that your documentation is complete and properly referenced. After all, 12 years of medical training don’t necessarily make doctors inclined to listen to or consider what a patient says, however knowledgeable they may be about their illness…

Personally, I like to be well-informed and, although this approach may not suit everyone, I recommend making use of online resources. Explore reputable articles and websites to ensure that the information is fact-based. This enables you to ask insightful questions and better understand the complex aspects of the disease. It is essential to advocate for yourself, so don’t hesitate to seek a second opinion if you are concerned about a particular result or diagnosis.

In addition, having a reliable support system is invaluable. If you are fortunate enough to have access to a genetic counsellor, make use of their expertise. A listening ear combined with a wealth of information can make all the difference. Communication is key—share your concerns and questions openly in order to strengthen the support you receive.