The Diagnosis

In May 2021, following an extremely demanding professional activity, I experienced severe burnout at the age of 36. The fatigue and exhaustion were intense and persistent. I lost 10 kg in one month, then another 10 kg shortly afterward. My general practitioner ordered many medical tests to check if something else might be going on. And indeed, a liver condition was found, caused by my lifestyle and overly intense work rhythm.
On July 23, 2021, the CT scan results came in:

“Thorax: cystic air formations in both lower lobes, the middle lobe measuring 20 mm, and the left upper lobe measuring 38 mm. (…) Conclusion: Cystic air formations (…) to be correlated with a pulmonology consultation.”

At that moment, I was in complete uncertainty and confusion. I realized, after basic Google searches (as anyone would do in this situation), that it could be serious or very serious. But I still had no clear diagnosis. My general practitioner referred me to a pulmonologist at APHP (Assistance Publique – Hôpitaux de Paris).

The waiting time was long, and I finally got an appointment on October 8, 2021. The pulmonologist seemed reserved and quite uncomfortable with my case. He examined my forehead and neck, which had no apparent connection with the lungs. At the time, I was very skeptical and struggled to understand his approach. Then he referred me to dermatologists for additional tests, telling me he suspected Birt-Hogg-Dubé syndrome.

I then understood why he was uncomfortable with the diagnosis: it was because this condition is so rare that even he was surprised.

Genetic testing later confirmed the diagnosis. I have the syndrome’s symptoms on my face and neck, as well as the lung cysts.

I am the first person in my family to be diagnosed.

The situation is delicate because family members need to be informed and tested, but at the same time, each person is free to decide whether to do so or not.

Both my parents underwent CT scans, and it turns out that my mother also has lung cysts and an early kidney cyst. Genetic testing is ongoing.

My brothers have also been tested, but no formal confirmation has been made yet.

As for my daughters, they will legally have the right to undergo genetic testing once they turn 18.

Monitoring

I am currently monitored annually to track the progression of the condition, but it does not affect my daily life in any way.

Finding a doctor

Since I live in Paris and receive care through APHP, my follow-up has been quite thorough, including several skin biopsies and lung function tests.
But for my brother, who lives in a smaller city, it has been much more complicated to even get a CT scan. Doctors there are unfamiliar with the disease, which significantly slows down the process of care.

Advice

As of today, the main medical expert in France is Professor Stéphane Richard at Kremlin Bicêtre Hospital. He coordinates the PREDIR center, which manages all rare kidney diseases in France. In the regions, there are also reference centers where one can find specialists for skin, lungs, and kidneys who are familiar with this syndrome.

Outlook

In my case, this has also pushed me to live differently: in a healthier way, with a calmer lifestyle, and more focused on my family and children.