We are always interested in hearing from people with BHD syndrome. If you would like to write your own personal story or take part in an interview please get in touch at email@example.com.
Anna Marie, Ireland
Anna Marie was diagnosed with BHD after a history of spontaneous pneumothoraces. She shared her experiences of having a collapsed lung and recovering from COVID-19 with us.
CF discovered they had BHD after a lung CT scan following a diagnosis of a rare type of sarcoma called epithelioid PEComa (perivascular epithelioid cell tumour).
Dieke, The Netherlands
Dieke was recently diagnosed with BHD, after initially being diagnosed with LAM. She shared her diagnostic journey with us.
J was diagnosed with Birt-Hogg-Dubé syndrome (BHD) 10 years after noticing the first white bump on her skin. She shared with us her BHD story from diagnosis to surgery and we discussed the importance of raising awareness
Dennis was diagnosed with BHD after his brother developed kidney cancer. He discusses the effect it had on his family and how it brought them closer together.
Claudia was diagnosed with BHD after having 2 partial nephrectomies to remove tumours in her kidney. Find out how this impacted her and the advice she gives to others.
Filippo was diagnosed with BHD after developing a collapsed lung. which occurred after surgery for kidney cancer (7 tumours were removed).
Written Interviews with researchers, clinicians and members of the BHD community
Dr Masaya Baba’s research investigating kidney cancer and Sabina’s story
Dr Mehdi Mollapour’s research investigating the role of folliculin in kidney cancer and Wendy’s Story
Caroline’s story: Living with BHD
Dr Yu Jiang’s research investigating signaling mechanism of folliculin and Tracy’s story
Nishant Gupta’s research raising awareness of BHD and Maria’s story
Long Yi’s research investigating the role of folliculin mutations in pneumothoraces and Jan’s story
Dr Mitsuko Furuya’s research investigating renal and pulmonary pathologies in BHD and Anna’s story
Dr Brian Iritani’s research into immune cells and tumour development and Geneva’s story
Ming Yan’s research investigating the role of folliculin signaling in cancer growth and Mary’s story
Davide Bondavalli’s research investigating the risk of developing BHD associated lesions and Tim’s story
Dr Shawn Ferguson’s research into BHD and Janet’s story
Lindsay Middelton’s experience counseling on BHD and Doris’s story
Dr Angela Pacitto’s research investigating folliculin and Anna’s story
Dr Paul Johannesma and Professor Pieter Postmus discussing the pulmonary symptoms of BHD, and Paula’s story
Dr Elaine Dunlop’s research into folliculin and mTOR signaling and Gigi’s story
Dr Stephen Land’s research investigating pulmonary cyst formation in BHD and Gloria’s story
Dr Laura Pradella’s research investigating the role of folliculin in the development of cancers and Brenda’s story
Professor Stéphane Richard’s research into inherited predisposition of kidney cancer and Sophie’s story
Dr Doug Medvetz’s research into the interactions of folliculin with other proteins and Drew’s story
Dr Suet-Ping Wong’s research investigating non-viral gene therapy and Michelle’s story
Prof Andy Tee’s research into BHD and Helma’s story
Dr Laura Denby’s research investigating BHD and Anita’s Story
Professor Arnim Pause’s research into folliculin and Jocelyn’s story
Dr Justin Roth’s research into gene delivery vehicles and Mary’s story
Dr Vera Krymskaya’s research into folliculins role as a tumour suppressor and Desteny’s story
Dr Tim Cash’s research investigating the effects of BHD on chromatin and Ruth’s story
Professor Eamonn R. Maher’s research investigating the relationship between the genetics and clinical complications of BHD and Wendy’s story
Prof. Dr. Maurice van Steensel work in BHD and Karen’s story
Dr Laura S. Schmidt research in to the genetics of kidney cancer and Mark’s story