Who are we?

The association is based in the west of France. At present Its board consists of four people: the President, Jenny Marlé-Ballangé, the Secretary General, Aliénor Ballangé, the Treasurer, Lauren Edwards and the Communication Manager, David Simoes.

In 2022-2023, thanks to the BHD Foundation, with which the association works closely, the President undertook a one-year training course at the Sorbonne-Salpétrière in Paris on “Democracy in Health” to gain a better understanding of the role of expert patients and political, medical, and governmental bodies in the healthcare system.

The Association also works with ERN GENTURIS genturis-registry.eu, the European reference network for patients with rare genetic diseases at risk, which in 2024 developed a comprehensive guide to BHD, published in the prestigious medical journal European Journal of Human Genetics.

In December 2024, the Association participated in the Journée des Dermatologues (Dermatologists’ Fair) in Paris to raise awareness among dermatologists of their crucial role in screening for the disease, given that a very large proportion of patients present with characteristic but still little-known dermatological lesions.

 The Scientific Advisory Board of BHD FRANCE includes:

• Dr. Caroline Abadie, oncogeneticist, Institut de Cancérologie de l’Ouest, Saint-Herblain (44)
• Professor Nelly Burnichon, head of the PREDIR network (Predisposition to Kidney Tumors), Georges Pompidou European Hospital, APHP, Paris
• Professor Jean-Michel Correas, national uroradiologist for the PREDIR network at Necker Hospital (Paris)
• Dr. Sophie Gad, head of the EPHE “Kidney Cancer” Group, Gustave Roussy Institute, Villejuif (94)

• Professor Stéphane Richard, founder of PREDIR.

 Advice for Newly Diagnosed BHD Patients

Consider yourself fortunate, not condemned: now that you know you have this condition, you can face it and understand exactly what you should and should not do. For example:

• Have your kidneys checked every year with an MRI (insist on MRI, as it is considered more effective than a CT scan).
• Stop smoking, if you do.
• Although doctors disagree about the risks of air travel, it is wiser to avoid long-distance flights if you have had more than one pneumothorax in the past five years.
• And of course, skydiving and scuba diving are strictly forbidden.

BHD Syndrome is very similar to COVID in that no two cases are alike: some people are only very mildly affected and show hardly any signs of the syndrome—no skin bumps, perhaps just one or two pneumothoraxes in their lifetime, and possibly never any kidney cancer. There are NO rules.

But what BHD does bring is a new perspective on how we live. Most patients make radical changes, especially in:

• Dietary habits – much less sugar and dairy, little or no meat, and far more vegetables and fruits.
• Work-life balance – adopting a slower, calmer lifestyle.
• Priorities – devoting more time to people and things that truly matter.
• Managing stress – as with many other diseases, the more energy you burn, the more you put yourself at risk.

Also understand that BHD, although incurable, is one of 7,000 rare diseases currently identified thoughout the world—but by far one of the least disabling.

Talk about it with your family, friends, other patients, the BHD France Association, and don’t hesitate to seek psychological support.

Finally, the field of genetics is gradually becoming more familiar with our faulty gene (FLCN), and you can trust its progress. If your children carry the mutation, there is a strong likelihood they will benefit from all the advances in genetic research once they reach adulthood.

To sum up: You can live your whole life with BHD without endangering it, provided you stay attentive to its three hallmarks through regular monitoring. You may sometimes feel chest pain when a lung cyst ruptures, but in such cases you can guide emergency services and explain to ER doctors and pulmonologists what is happening—we have become expert patients in our own disease.

Do not hesitate to ask a dermatologist to remove your skin bumps with liquid nitrogen (it works very well). As for kidney tumours, not all of them are cancerous, and if detected early, they are perfectly operable. The key is to remain highly vigilant.