A personal story of Birt-Hogg-Dubé syndrome, a genetic cause of lung collapses

Written by: Katie Nightingale, charity officer, Myrovlytis Trust with thanks to Joanna Hawley-McBride for sharing her story

Getting married 7,500 feet above sea level in the North Cascade Mountains in Washington state was a dream come true for Joanna Hawley-McBride. As someone who loves rock climbing and hiking in the mountains, she wanted to share this part of her life with her friends and family on her wedding day. Little did she know just a few days after the best day of her life she would end up in hospital on advanced life support

During her wedding day, Joanna complained of having right shoulder pain and feeling breathless but didn’t think much of it and put it down to the stress and excitement of getting married. Over the next few days, the pain didn’t go away and after a spin class she developed chest pains. Her doctor arranged for her to have a chest x-ray just to make sure everything was normal. After her x-ray she went to the bathroom and heard lots of people outside. She was met outside by a man who put her in a wheelchair and wheeled her off to the emergency department. Joanna’s right lung had almost completely collapsed, and she had to receive immediate treatment. She spent five days in hospital where a chest tube was inserted and had surgery to help reinflate the lung.

Fast forward six months and Joanna was diagnosed with a rare genetic condition called Birt-Hogg-Dubé Syndrome (BHD). BHD is characterised by fibrofolliculomas (benign skin lesions), a predisposition to kidney cancer and, importantly for Joanna, lung cysts and collapsed lungs (pneumothorax). Most people with BHD live normal lives; however, it is important to undergo regular monitoring of the kidneys to detect and treat any kidney cancer as early as possible. It is also important to know and understand the symptoms of a pneumothorax so that you can access treatment quickly. These include breathlessness, cough and chest and/or shoulder pain. Some people with BHD, including Joanna, also have a type of surgery called pleurodesis to prevent them having repeated collapsed lungs. This procedure involves sticking the outside of the lungs to the chest wall to physically prevent the lung from collapsing.

What is a pneumothorax?

A pneumothorax can either happen spontaneously or because of a direct injury that causes the lung to collapse. Generally, men are more likely than women to have a spontaneous pneumothorax and they are more common in tall, thin people. However, in around 1 in 10 collapsed lungs, there is an underlying genetic cause. There are several genetic conditions that can cause collapsed lungs, and of these, BHD is the most common diagnosis. Many of these rare diseases come with other complications, so early diagnosis is essential to get the best care possible.

We are celebrating World Pneumothorax Day on 30 June. We want to come together to raise awareness of the genetic causes of collapsed lungs and to encourage all doctors to investigate the cause of pneumothorax, especially if there is a family history.

Joanna is young, fit and healthy. She isn’t the typical “type” of person you would expect to suffer from a collapsed lung for no reason. Like many of us, Joanna had no idea what a pneumothorax was, what the symptoms were or what they felt like, until she ended up in hospital. This is one of the reasons she wanted to share her story and raise awareness of the genetic causes of collapsed lungs. 

The other reason Joanna was inspired to share her story is one that many people with different rare conditions can relate to: the feeling of loneliness.

“I know when I was first diagnosed, I didn’t know anybody who had it, and I felt pretty alone not really knowing who can I talk to about this, who can really understand what it means to have a chest tube… and just sort of navigating those feelings of the unknown. So, my hope in sharing my story is that people won’t feel as alone, especially if you don’t fit the typical look and persona of somebody who has a pneumothorax.” – Joanna

Joanna’s advice to someone with BHD

Joanna’s advice is to research your doctors and find the best care you can to help manage your condition. She feels incredibly blessed to have a great lung doctor who works with her to help manage her BHD symptoms. As well as making sure her lungs are healthy, he helps organise her yearly MRI scans for her kidneys and has referred her to a dermatologist for the bumps on her face.

Living life to the full with BHD

Joanna’s diagnosis didn’t put a stop to her active lifestyle. In fact, it spurred her on further and inspired her to live life to the fullest.

“We were very inspired after my diagnosis to sell our home in the city and buy a home—a cabin in the mountains—in the North Cascade mountains of Washington state, and really just live life in the area where we spend all of our time anyways, and just kind of, you know, the whole cliché of live life to the fullest and just kind of jump in.” – Joanna

Her hopes for the future are to spend more time in the mountains doing the things she loves – climbing, hiking and alpine lake swimming. Joanna also is excited to travel in the future, especially as she hasn’t yet been able to go on her honeymoon due to the COVID-19 pandemic! Ultimately, she wants to live her life in the same way as she did before her BHD diagnosis – positively, confidently and adventurously.

Support for BHD

Established by the Myrovlytis Trust, the BHD Foundation is the only charity supporting individuals with BHD internationally. Our website offers many creative resources to inform and empower the BHD community, such as patient interviews, information leaflets and weekly blog posts. We also run regular events for the community and can help you locate a doctor in your area or assist you in accessing genetic testing. We are happy to answer all your questions via email.

At the BHD Foundation, we were struck by Joanna’s inspirational story and her general positivity towards life. We believe that having BHD shouldn’t have to limit you, and Joanna is the perfect example of someone who has turned what could have been a negative impact on her life into something positive. Joanna is a social media content creator and blogger. You can follow her blog, jojotastic, for updates on her home renovations, mountain adventures and more!

How can I support World Pneumothorax Day?

World Pneumothorax Day is taking place on 30 June. You can get involved by:

• Sharing this article on social media.
• Using the BHD Foundation’s social media toolkit to create your own Facebook or Twitter posts.
• Following the BHD Foundation on Facebook and Twitter. We will be sharing interviews with patients and doctors throughout the day.

Please use the hashtags #WPD22 and #PneumothoraxDay so your posts can be shared by The BHD Foundation and other participating groups. 

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