A Personal Story of BHD – The First Case in Western Australia

Maree P had her first lung (pneumothorax) collapse as she won a cross-country running race. 50 years on she shares her experience of being diagnosed with BHD.

What were your first BHD symptoms?

At the age of 15, I had my first pneumothorax after crossing the finish line of a Cross Country running event. I won! I felt extreme pain in my chest and initially couldn’t get my breath. After a few days I commented to my mother that I had strange gurgling noises running up my back. After a visit to the Doctor, I was sent to ED where I spent a week in hospital, touching my toes so the junior doctors could hear my gurgling chest! This happened in 1972! Ten years later I had another spontaneous pneumothorax and another one around 2012 then 2016.

How did you end up diagnosing yourself with BHD?

After my third spontaneous pneumothorax I attended ED, mainly to see if I could have a needle aspiration to remove air so I could fly to Bali. I was then given a referral to the Respiratory Clinic to investigate my history of pneumothorax. After two years of CT scans, lung function tests and being tested for almost every lung disease, seeing many doctors within the clinic,  I decided to seek a second opinion from a private Respiratory Physician. He was intrigued by my case and said he was going to look at a few possible causes but not to look them up on Google. I decided to search on Dr Google anyway but just typed in Lung Cysts and skin images popped up, being fibrofolliculomas, which looked exactly like my older brother’s skin! I emailed my Physician asking could it be BHD and he said “rare as hens’ teeth but let’s not discount this possibility”. After seeing a Genetic Specialist and having blood sent from Perth to America, my results came back months later as being positive for BHD.

You were told you were the first case of BHD in Western Australia. Had your doctor ever heard of BHD, and did you have any difficulties getting Genetic Testing?

It was a few weeks before I could see a Genetic Specialist but because BHD was reasonably rare, the wait for results was almost a year, given my bloods were sent to America. However, once I was diagnosed, my siblings didn’t have to wait long as pathologists knew what they were looking for, I guess. Also, I didn’t have to pay for this service which was a bonus.

The Professor I was initially supposed to see at the Respiratory Medical Clinic was aware of BHD but I didn’t get to see him as I wasn’t deemed sick enough I think. I can completely understand this as he sees many very sick patients with chronic lung diseases and being a public hospital, they are overwhelmed with cases.

How Supportive are your doctors now?

Professor Lee and his team at Respiratory Clinic at QE 11 Hospital have been extremely supportive and thorough with scans and getting regularly screened for possible cysts on kidneys or lungs. He often sends in new or Junior doctors to have a chat with me and check my skin to see what fibrofolliculomas look like. Any other specialist doctors I see with issues relating to BHD receive updates from the clinic. Since I was diagnosed (around 2014) others have been picked up having BHD. Five out of my seven siblings have since tested positive to BHD. We call it the ‘BIRT CLUB”!! However, I remind Professor I am his “Numero Uno”!

How Important is it to talk about BHD?

Obviously, it’s important to educate medical people of BHD as some symptoms like a pneumothorax can imitate a heart attack for example and correct treatment for care and survival is crucial. Also, kidney cancer can be managed if cysts are monitored or removed, if necessary, without taking the whole kidney out! Anaesthetists for instance, also need to understand possible complications during surgery if lungs are overinflated. The BHD Foundation website is also very helpful and supportive, especially to people who are newly diagnosed as the possible symptoms and impact on life can be overwhelming at first. Also, if Doctors/Paramedics are not aware of BHD, correct care is not administered.

Do you have any words of advice or wisdom that you’d like to share with someone who thinks they may have BHD?

Most importantly, get genetically tested to confirm you have BHD or find a doctor who is familiar with BHD. Everyone with BHD experiences different symptoms in varying degrees. Stay well informed, belong to a BHD support group, if possible, share experiences with other BHD people on social media like the BHD Foundation.  BHD is not a death sentence and with regular screening of kidneys, lung function tests, correct care, living a healthy lifestyle, knowing your limitations and a positive attitude, you should be able to live your best life.

The BHD Foundation would like to thank Maree P for sharing her story. Through sharing personal stories of BHD, we can increase awareness and hopefully speed up time to diagnosis.

If you are looking for a BHD doctor visit our interactive map or email us at contact@bhdsyndrome.org

You can also find out more about genetic testing in our toolkits.

Do you want to raise awareness of BHD? Join us on June 30th on social media for World Pneumothrax Day 2023! We have a social media toolkit with example posts and customisable images.

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