Roger's Story - 84 Marathons, 1 Parotid Tumour and 50 Years of BHD

Roger had his first lung collapse in the 1970s. Now 50 years later he is sharing his story of Birt-Hogg-Dubé syndrome (BHD). In this interview, Roger discusses the challenges he has faced navigating a rare condition, the BHD symptoms he and his identical twin brother have had and his surgery for a parotid tumour.

 What were the events that led you to be diagnosed with BHD?

In the early 70s, when I was about 20 years of age and studying at university, I suffered the first of a number of spontaneous pneumothoraces (lung collapses). Over the next 3 years I had further partial or full collapses of my left lung. Ultimately it was determined that I should undergo surgery at Green Lane Hospital in Auckland to permanently adhere my left lung to my chest wall. This pleurodesis surgery was undertaken in January 1974, and I have 10% less capacity in my left lung as a result. At that time there was no mention of it being BHD. I had some family history of lung collapses, with my father having suffered one soon after World War 2, and an older brother having suffered several pneumothoraces. However, there was no mention of a genetically caused syndrome, and indeed any thought of it being genetically caused was dismissed. It was simply regarded as a spontaneous event, possibly brought on by physical or mental exertion. That position was possibly understandable at the time, as BHD was only discovered and given a name in 1977, so it was not a known syndrome in the medical profession. That position continued until the same older brother suffered a further collapse in the late 90s, and consulted a local doctor, who came from India. He had knowledge of it and identified it as BHD. My older brother then made the diagnosis known, and the reason for the occurrence of it within the family then became clear. 

I am an identical twin, and my twin brother and I have suffered almost exactly the same BHD symptoms. My twin had initial surgery to correct pneumothoraces, about 2 years after me (in 1976), and also for the left lung. Subsequent to that, I suffered a collapse of the right lung, and underwent a pleural aspiration (small needle or tube is inserted into the space between the lung and chest wall to remove air). This corrected the issue. My twin also suffered problems with his right lung and underwent a chemical pleurodesis. Some years later the adhesion broke and had to be corrected by further surgery. In 1995 I underwent surgery for the removal of a tumour on my parotid gland in my left cheek, but my twin has had no such issue. Since achieving 50-plus, we have both had renal tumours dealt with, either by surgical removal or cryogenic freezing. We both undergo annual ultrasounds or scans to monitor such tumours. 

 Parotid tumours have been reported in people with BHD. Currently, we do not know if these tumours are associated with BHD or if they are just a coincidence*. Please could you tell us about your experience being diagnosed with a parotid tumour?

 In 1995 I had a tumour removed from the parotid gland in my left cheek. Initially, this was thought by my GP to be a sebaceous cyst. He took the precaution of referring me to a cancer specialist. As soon as that specialist saw it, he told me that I was to enter hospital the very next day for him to surgically remove it. That occurred, and the subsequent laboratory analysis of the tumour confirmed that it was malignant. My neck and cheek were bandaged for approximately 2 weeks (the skin was basically rolled back down to the necklines, and no scarring occurred). The surgeon did a very good job and subsequently recommended radiation therapy as he was not sure if he had managed to "get all the tentacles" of the tumour. I ultimately elected not to have that because of the side-effects (dry mouth, poor healing in gums, difficulty in clotting during dental work, possible effect on taste). Instead, it was suggested that I have regular ultrasounds of my cheek (every 2 years or so). I have not had any further issues with it. The only sign of it is a slight indentation in my left cheek profile. 

 Have you faced any challenges having a rare condition and how have you navigated them?

 The challenges faced as a result of BHD are:

1. The obvious inconvenience of having to undergo regular medical checks and resultant procedures for lung collapses, kidney tumours and skin papillae;
2. Not being able to participate in certain activities that might place stress on the lungs e.g. skydiving, parachuting - that said. I have been a long-distance runner for over 45 years and have not suffered any incidents during marathon events (84 to date and hoping to get to 100). My twin has done over 110 marathons without incident. My twin brother and I have also been serious trampers (=hikers) for over 55 years, with no BHD incidents occurring in all that time, despite hard physical exertion. At the age of 65, we also both managed to climb in Nepal, albeit gradually, to an altitude of 5,416  metres (17,769 feet) without any ill-effects.
3. Air travel - I have had to be wary, but to date have not had any incidents while flying.  I have never been advised not to fly.
4. Discussing the issue with our children - we have 4 sons, and they all decided to be tested for BHD when such tests became available. The result was that two of them have BHD and two of them do not. Interestingly, two of our sons are fraternal twins, and one of them has BHD and the other does not have BHD.
5. Loading of insurance premiums for life insurance - Both myself and my affected sons have encountered increased life insurance premiums as a result of disclosing BHD, which is now a recognised medical condition. I have also had life insurance declined. There seems to be a good deal of general ignorance in insurance companies as to the effects of BHD, which in my experience has not been life-threatening and only minimally inhibiting. 
6. Huge ignorance of BHD within the medical profession - most doctors that I have encountered have never heard of it. There is a gene clinic at Auckland Hospital, but outside of that there seems to be a lack of knowledge of BHD within the medical fraternity. 
7. General lack of knowledge of any others within New Zealand with BHD, which might enable the sharing of experiences and mutual support. Such sharing has only been within the immediate and wider family to date.

 

What advice would you give to others with BHD? 

 My advice to others with BHD is to not let it hold you back  - get on with life, but be sensible and undergo the appropriate tests, diagnosis and procedures if problems arise. 

 I hope that these comments may be helpful to others on the BHD journey. 

 We would like to thank Roger for sharing his BHD story and raising awareness of the challenges that people with rare conditions may face. The first hurdle to overcoming these challenges is by identifying them and we are already tackling awareness of BHD among doctors by talking about it.

 *Currently the only cancer associated with BHD is kidney cancer. We know that people with BHD do get other cancers, but it is not known if they are caused by BHD or are just a coincidence. To determine which it is you need data. Last year we launched the BHD International Registry (BIRT). This is a patient registry where you can input information about your BHD symptoms and any other symptoms you’ve had. The data from this registry (which is anonymous) will be accessible to researchers to increase our understanding of BHD. Sign up to the registry.