Lea is 1 of 300 million people living with a rare condition. As part of our Rare Disease Day activity, we're honored to share her empowering story to help raise awareness of rare conditions and the importance of diagnosis.

Lea at finishing line

 

How many of you could swim 2.4 miles, cycle 112 miles, and run a marathon, one after the other? This is what it takes to complete an Ironman. An incredible achievement for anyone, but especially so for Lea Nadler.

 

Lea completed her first Ironman in 2021 at the age of 57. You’d never know she’d had multiple lung collapses and lung surgery and, as it turned out, a rare inherited condition.

 

Lea had always been a fit and active individual with a love for swimming. When she had her first lung collapse in 2008 for no apparent reason, it was a big surprise. Lea did some research and stumbled across a rare condition called Birt-Hogg-Dubé Syndrome (BHD), she even printed off some research papers to show her doctors. Initially, her doctors didn’t believe her and shrugged it off as they hadn’t heard of BHD. However, Lea was persistent, she switched doctors and found someone who listened to her, took her seriously, and helped her get genetic testing for BHD.

 

What is BHD? 

BHD is a rare genetic condition caused by mutations in the gene folliculin. It is characterised by the development of fibrofolliculomas (benign skin tumours), lungcysts and pneumothorax (collapsed lung), and a predisposition to kidney cancer. BHD is not normally life-threatening and with regular monitoring and an understanding of the symptoms, most people live normal lives. However, life-long monitoring and the risk of developing kidney cancer can be a significant burden to carry.

 

At the time of her BHD diagnosis, Lea was a successful businesswoman raising two young children. She was determined to not be limited by having BHD. In fact, her diagnosis made her even more focused on her health and fitness. Lea started swimming again and constantly challenged herself to see how far she could go.

 

Rare Disease Day

Lea is 1 of 300 million people living with a rare condition and her empowering story shows how important it is for rare conditions to be recognized and why on Rare Disease Day we need to come together and raise awareness. Watch Lea share her inspirational journey from lung collapse to Ironman in this video.

 

Collapsed Lung to Iron man with subtitles

 

BHD Foundation

The BHD Foundation wholeheartedly thanks Lea for taking the time to share her inspirational story and raise awareness of BHD. The BHD Foundation, managed by the Myrovlytis Trust, funds research, raises awareness and supports the BHD community.

 

If you have any questions about BHD or need support reaching a diagnosis or finding a doctor, please visit the BHD website.

 

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