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 described (1974) 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.

Birt-Hogg-Dubé syndrome (BHD) is a rare genetic condition that causes lung cysts, lung collapses, skin bumps (fibrofolliculomas) and kidney cancer. It is likely that you, your family and even your doctor had never heard of BHD before you were diagnosed. This lack of awareness often results in misdiagnosis, late diagnosis and uncertainty. This experience is shared by the 30 million people living with rare diseases.

This Rare Disease Day we are highlighting the health inequalities that people with rare diseases face in particular the challenge that has to be overcome to reach a diagnosis. The BHD community have come together to share their experience and give advice to others navigating the healthcare system. If you are currently waiting for a diagnosis they want you to know that you are not alone.

How long does it take to be diagnosed with BHD?

It takes on average 4 to 5 years for someone with a rare condition to be correctly diagnosed. Data from the BHD patient registry allows us to take a closer look at the diagnostic journey of people with BHD. The BHD registry is a centralised database that collects information from people with BHD. The more data collected the easier it is to study BHD and further our understanding of the condition (take part in the registry today).  

As of September 2022, 101 people had recorded information about when they developed symptoms and were subsequently diagnosed with BHD. People typically had their first symptoms at 30 years old. Their first contact with a healthcare service in relation to symptoms was typically at 43 followed by a diagnosis of BHD at 44 (find out more about this data in our 6 month registry review blog post). These results suggest that on average it takes 1 years to be diagnosed after contact with a healthcare service. However, we know for some people it’s a lot longer. The BHD community shared their diagnostic journey which ranged from 6 months to 50 years.

Why does it take so long for a diagnosis to be reached?

Several barriers to being diagnosed with rare diseases have been identified through research. This includes a lack of awareness among doctors, a shortage of experts and the variety of symptoms someone may present with. This means that people may be bounced between different experts as their symptoms do not fit into those of more common conditions. This is echoed by members of the BHD community who describe how their doctors had never heard of the condition. Some people have also had incidences where they have not been listened to when advocating for themselves.

How do we overcome the barriers?

Listing the reasons why rare diseases are not diagnosed can seem daunting. However, identifying the barriers is the first step to making change. Rare Disease Day is an opportunity to highlight the challenges and raise awareness of rare conditions. The more people know about them, the more likely someone will get correctly diagnosed. Additionally, at the BHD Foundation we have resources to support your diagnostic journey:

We have an interactive map of BHD doctors to make it easier for you to find someone who can support you. Or contact us directly and we can help to identify someone in your area.

We also have resources that you can share with your doctor including information on our webpage and leaflets. This can make it easier for them to learn about your condition. We understand that having BHD means you may have to be your own advocate and we are here to support you all the way.

The BHD community are here for you too. There is a patient-led Facebook group where you can ask questions and hear from other people with BHD.

For the creation of this blog members of the BHD community shared their experiences. They also have some advice for those who are in the diagnostic process or are newly diagnosed.  

Here is their advice:

‘Talk with a genetic counsellor…they were so helpful in how testing works, how to get tested and why do you think you should get tested.’

‘Get in touch with BHD Foundation to identify someone nearby to assist them in getting diagnosed.’

‘Even if it is only one organ involved, push to get tested!’

‘Push for genetic testing and move away from doctors that do not listen to you.’

‘Try to live as normal a life as you can. We are all different; some will have more challenges than other.’

‘Get tested!’

‘Don’t stress and get your kidneys checked often’.

‘Request to see a specialist.’

‘Look into genetic testing early.’

‘Get as much family history as you can beforehand. Be patient.‘

‘Get referred to a geneticist and get tested’.

‘Be proactive and persistent with your doctors.’

‘Get a DNA test!’

‘See the right kind of doctor…also get the genetic test.’

‘A positive diagnosis is not the end of the world…it’s best to know so we can get the needed surveillance tests…I would also recommend to have family members & relatives tested.’

‘Read reliable information about BHD & don’t be afraid to teach your medical team about BHD as they likely know nothing about it.’

‘Join a BHD support group. Many potential patients are going to want to learn all they can about DNA and hereditary (conditions) and how BHD fits into this.’

This Rare Disease Day we come together to shed light on the time people have to wait to be diagnosed with a rare condition. Together we are not rare, we are everywhere and it’s time we are seen.

Thank you to everyone who took part in the survey to make this blog possible.

Every few months we highlight some of the recent Birt-Hogg-Dubé syndrome (BHD) case reports. A case report is a detailed account of (normally) a single person’s diagnosis and treatment journey. Case reports are published in medical journals and are an opportunity for clinicians to learn about how different conditions may present.

In this blog we look at two cases of rare cancer in people with BHD.

A rare soft tissue tumour

The first case described a 60-year-old woman with a pink nodule on her shoulder that had been growing for 12 months. She was known to have BHD and had skin bumps on her face, in keeping with fibrofolliculomas, a history of lung collapses and suspected kidney tumours.

A sample of the pink nodule was taken and examined under a microscope. The nodule was confirmed to be a cutaneous leiomyosarcoma (cLMS). cLMS is a type of rare soft tissue tumour that occurs in the skin. The woman had a surgical procedure called a wide local excision to remove the tumour.

The team took samples of the cLMS, normal skin and blood to check for folliculin (FLCN) variants. Faults (also called variants) in the FLCN gene are associated with BHD. Everyone has 2 copies of FLCN and only one copy needs to be faulty to lead to the skin bumps and lung cysts seen in BHD. However, it is thought that for kidney cancer to develop, the second copy of FLCN also needs to develop faults (known as loss of heterozygosity, LOH). When the team tested normal skin and blood samples they found a single FLCN variant. However, in the cLMS sample they found LOH as both copies of FLCN were faulty.

This is the third report of cLMS in someone with BHD. The other two cases also had faults in the FLCN gene. The researchers suggested that folliculin variants may drive the development of cLMS. However, there are also other genes that, when faulty, can cause it. They recommend that people diagnosed with cLMS should have a clinical assessment to see if they have any features of BHD.

A tumour in the parotid gland

The next case described a 68-year-old man with a mass on his face that had been growing in size for 2-3 years. At this point he was not known to have BHD. He had a CT and MRI scan which showed that he had a growth in his right parotid gland. He had surgery to remove the whole gland.

To identify what had caused the growth a sample of the gland was examined under a microscope. This showed a type of cancer called an oncocytic carcinoma. Oncocytic carcinomas are different to parotid oncocytomas, which have previously been described in BHD. Parotid oncocytomas are benign. This means that they are not cancerous and do not spread to other parts of the body. The rarer oncocytic carcinomas are malignant. This means there is a risk that they can spread to other parts of the body. Therefore, the patient had further surgery and radiotherapy to reduce the risk of this happening.

During his treatment he had a CT scan of his chest. This revealed lung cysts. He also had skin bumps in keeping with fibrofolliculomas. His team recommended genetic testing for BHD. The test confirmed that he had BHD.

This is the first case of an oncocytic carcinoma of the parotid gland in BHD. It’s a very rare cancer, however it’s important to distinguish it from parotid oncocytomas as it requires different treatment. Any parotid mass should be fully investigated.

This case also highlights the role that radiologists can play in diagnosing BHD. The incidental findings of cysts, on a CT scan, was instrumental in diagnosing him with BHD.  

What we can learn

These cases describe two rare cancers in BHD. A case report on its own cannot prove a link between BHD and a cancer. However, we can learn from them. These cases show us:

• The importance of investigating a lump/bump that is growing.
• Doctors should investigate people with cLMS for BHD.
• Incidental findings of lung cysts on scans should lead to further investigation.
• It’s important to distinguish between different causes of parotid masses as the treatment will differ.

To increase our understanding of BHD it is crucial that we get more data. Last year we launched the BHD syndrome international registry (BIRT). BIRT is a patient-reported database where people with BHD can upload information about their condition. This data will feed into research and help answer vital questions such as whether BHD is associated with any other conditions.

Take part in the registry now. You can also email us with any questions at contact@bhdsyndrome.org.   

Rare disease day takes place on the 28th of February every year. This year the theme is health equity. People with rare diseases are more likely to experience treatment inequality, misdiagnosis and isolation compared with other more common health conditions. This needs to change.

We will be actively involved in Rare Disease Day and would love for you to join us.

There are many different ways to get involved, from being part of our BHD Blog to lighting up your house. Below we have included several ways that you can get involved.
 
Be part of our Rare Disease Day blog and raise awareness of delayed diagnosis.

This Rare Disease Day we are talking about health equity and challenging doctors to think rare. We are putting together a blog post about the challenges people have had to overcome to be diagnosed with BHD.

You can add your voice to the blog by letting us know.

• How long did it take you to be diagnosed with BHD?
• What challenges did you face when being diagnosed?
• What advice would you give to people who think they may have BHD?

The answers will be anonymously included in the blog to highlight to clinicians the challenges people with BHD face and why it’s so important to think BHD.
 
If you would like to get involved please complete this short anonymous survey.
 
Attend an event.   

Find an event in your area by visiting the Rare Disease Day website.

• Attend the NIH Rare Disease Day.
• Attend the virtual FDA Rare Disease Day public meeting.

Spread the word on social media.

Rare Disease Day have a social toolkit and downloadable resources.

Don’t forget to tag us on Twitter @BHD_Foundation or Facebook @birthoggdube so we can share your posts.

Fundraise for BHD

You can also fundraise for the BHD Foundation. We greatly appreciate any donations. All the money raised on Rare Disease Day will go towards the new BHD website that will launch later this year. The aim of the new website is to better support the BHD community. Visit our Fundraising page to find out more. 

Share your colours

• Take part in Global Chain of Lights.   

You can also let us know if you have any ideas for rare disease day and we can help make it happen!

Together we will show our colours on Rare Disease Day and challenge doctors to think BHD.

At the end of 2022, we sent out a survey to the BHD community about our work at the BHD Foundation. We wanted to make sure you had a say in the projects that we prioritise in 2023.  In this blog, we summarise some of the common themes and ideas highlighted by the survey and how we are addressing them.

Connecting with Others

You said:

• You would be interested in meeting other people with BHD.
• You would be interested in face-to-face conferences.
• You enjoy the Meet the Expert sessions and are most interested in hearing from lung and kidney experts and BHD researchers.
• You would like a list of BHD specialists in different countries.

We did:

• We direct all new BHD patients to the BHD patient led Facebook group where they can share experiences, ask for advice and connect with others.
• We have confirmed a date for the 2023 BHD Research Symposium. This year’s event will be aimed at clinicians and researchers. We also encourage patients to attend as an opportunity to learn more about the latest research. The symposium will be hosted both in person and online. More details about this will be announced soon.
• We have confirmed a date for the first Meet the Expert Session of 2023. On Wednesday 1^st February we will be joined by Lisa Henske. She will be talking about her research into BHD and lung cysts. Register now.
• We have an interactive map where you can search for BHD experts. We have also added an option to download a list of BHD experts in different countries.

We are planning:

• To explore creating a ‘virtual coffee’ morning. These virtual meetings will be a platform where people with BHD can meet and share their experiences. If you are interested in helping with these sessions get in touch with us at contact@bhdsyndrome.org.
• To host a dedicated patient conference every other year following the success of the BHD Community Symposium in 2022. This will include opportunities to connect with researchers, clinicians and other people with BHD.

Medical Records and Research

You said:

• You would like to hear more about current research.
• You would like to be involved with research.
• You would like to see more research in the following areas:
  • non-kidney cancers
  • genetics
  • skin
• You said that research reports are not always accessible to people who do not have research backgrounds. 
• You would like information on the difference between cysts and tumours.
• You would like all your medical records to be in one place.

We did:

• We have a weekly blog post. We blog about the majority of new BHD research that is published.
• We launched the BHD Syndrome International Registry (BIRT) which will help to advance research into BHD. Anyone with a BHD diagnosis can take part and contribute to research. 
• We established the first BHD patient advisory board. This year they will be involved in reviewing grant applications to ensure the research we fund is relevant and impactful for people with BHD.
• We are currently funding several research projects into different aspects of BHD. This includes a project looking at BHD genetics and a project looking at the skin. We are in regular contact with our grant holders and will keep you up to date with these research projects.
• We are PIF TICK accredited and complete a yearly assessment. This means that we have processes in place to ensure that any new resources we make are accessible to people with non-research backgrounds. This includes involving members of the BHD community (patients and experts) throughout the development and testing of new resources.  

We are planning:

• To announce our 2022 grant holders very soon so you can find out more about our newly funded research.
• To explore how best to support people to get involved with research.
• To soon announce our 2023 research funding call.
• To redesign the BHD website and include information on a range of topics based on your feedback.  For example, the difference between tumours and cysts. If you have anything you’d like to see on the new website let us know at contact@bhdsyndrome.org.   
• To explore different platforms where you can upload medical records.

BHD Syndrome International Registry (BIRT)

You said:

• You would like to know where you can find information about BIRT.
• You would like to share the link to the BHD registry.
• You have concerns about sharing personal information in the BHD registry.
• You would like the registry to be available in multiple languages.
• You would like more information on how to navigate BIRT and how the data is used for research.   

We did:

• Information about the BHD registry can be found on the BHD Foundation website. We will be updating the BHD Foundation website this year and will ensure that the registry is clearly signposted.
  • Link to information about the registry: https://bhdsyndrome.org/for-families/bhd-syndrome-international-registry/
• We are very happy for you to share links to the registry.
  • Link to the registry: https://birt.healthie.net/register
• The Pulse Infoframe platform follows rigorous, international regulatory data standards and ensures the highest data security and privacy.
• The registry will soon be available in French, German and Spanish.

We are planning:

• To write a FAQ on BIRT that will address all your questions. The blog will be published in February. Until then please contact us at contact@bhdsyndrome.org with any questions.

Awareness

You said:

• It can be challenging to talk to family members about BHD.
• We need to raise awareness of BHD among doctors.  

We did:

• We have a letter that you can give to family members that explains what BHD is and information about genetic testing.
• We created a BHD symptom leaflet for doctors.
• We are preparing for Rare Disease Day 2023 and World Pneumothorax Day 2023. These days will help to raise awareness of BHD.

We are planning:

• To present and exhibit at conferences to raise awareness of BHD among doctors.

We will continue to review the feedback as the year progresses and update you on our progress. Thank you to everyone who took part in the survey. We wish you all a wonderful start to the new year.

Katty was diagnosed with Birt-Hogg-Dubé syndrome (BHD) in 2019 and was advised not to fly by her doctors. Having been a travel artist and looking forward to exploring the world with her sons, this news was very difficult.

In 2022, Katty wrote to the BHD Foundation in search of more information about BHD. Based on discussions with BHD experts and results from published research we explained that we do not advise against flying and it’s an individual’s choice. Current research suggests that if 1000 people with BHD flew on a plane, 1 or 2 of them would have a lung collapse. Pleurodesis may reduce this risk.

Although you can fly with BHD, you should not fly if you have a collapsed lung. This is because it will likely make it worse. If you have any symptoms of a collapsed lung you should see a doctor immediately.  

We spoke to Katty about her experiences being diagnosed with BHD and the challenges she faced when trying to find information about flying.

Watch the full interview below or read the transcript.

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The 2022 BHD Community Symposium took place virtually on October 8^th. We were delighted to have over 200 people registered from across the world. The symposium was designed to connect people with shared experiences of Birt-Hogg-Dubé syndrome (BHD) and break down the barriers between patients, researchers and clinicians. It was an opportunity to learn from one another and drive forward BHD research.

Connecting with the Experts

Our Meet the Experts session facilitated discussion around the symptoms of BHD. We had three ‘rooms’ dedicated to lung, skin and kidney symptoms. Each room had at least two BHD experts. They provided a platform where patients, researchers and doctors could talk about treating and monitoring the symptoms of BHD.  

Kidney

In the kidney session, we were joined by Consultant Urological Surgeon Mr Rupesh Bhatt (UK) and research scientist Dr Laura Schmidt (USA). Much of the discussion focused on kidney screening in BHD, which currently has no formal guidelines. Both experts agreed that kidney screening should start in early adulthood. They advised against only having CT scans. This is because CT scans use radiation. Instead, the experts recommended MRI scans or ultrasound scans. The frequency of the scans depends on the type of scan being used and whether a person has a tumour. They also explained that as BHD tumours are usually slow growing any kidney tumour detected should be monitored and removed if it reaches 3cm.

Lung

In the lung session, we were joined by Professor Lisa Henske (USA), Professor Nishant Gupta (USA) and Professor Stefan Marciniak (UK). A range of topics were discussed covering many aspects of lung cysts and collapsed lungs. It was queried if lung cysts change over time in BHD. The experts thought there wasn’t much change in BHD, but that this data comes from small numbers of people over relatively short time frames. More work needs to be done to confidently answer this question.

One common question that comes up often is concerning certain activities such as flying or diving with BHD. The risk of having a collapsed lung in BHD is thought to be less than 1 per 100 flights. The risk is thought to be the same for diving, however there is less confidence in this number due to the low numbers reported. The presence of lung cysts is not a reason to avoid flying or diving. However, if you have the symptoms of a collapsed lung, you should not fly or dive.

Skin

We were joined by Professor Joyce Teng (USA) and Dr Ed Cowen (USA) for a fascinating session on the skin.

The session started with a discussion surrounding the incidence of skin bumps (fibrofolliculomas) in the BHD population. This can be age-related, and may explain a lot of the delayed diagnoses seen. However, fibrofolliculomas are thought to only occur in BHD. Therefore, if a biopsy is taken this should be a clear indication of BHD.

The impact of skin bumps on well-being was discussed, with various treatment options outlined. None of the current treatments provide a permanent solution as the skin bumps will return after treatment. However, people have had relative success with various treatments. Due to BHD being a rare condition, with little evidence on these treatments, there are no official guidelines as of yet regarding the most effective treatment.

Connecting with the community

As BHD is a rare condition it is unlikely that your family, friends or even your doctor have heard of it. We know that this can feel lonely. The BHD Foundation is trying to change this by raising awareness and bringing people together through events such as the symposium.

“…there was comfort in participating with a community of individuals facing similar issues as myself. It definitely provided a level of ‘assurance’ that we are not alone in this!” Feedback from BHD community symposium attendee.

In our final session, Bob, Julia and Barnaby shared their personal BHD stories. Although each had different symptoms, there were many similarities between them. This included the challenge of reaching a correct diagnosis. Two of the panel members were doctors and they described how they had never heard of BHD before their diagnosis.  They suggested that although doctors cannot know all 7000+ rare diseases, there should be a ‘collaborative effort between patient and physician to educate each other’.

“I liked that there were specialists in all aspects of BHD, especially that there were physicians who were also BHD patients like the rest of us.” – Feedback from BHD community symposium attendee

Another common theme of this session was how to discuss BHD with family members and things to consider around genetic testing. This included the effects on mental health, access to insurance and changes to lifestyle. As having BHD leads to a change in medical care (regular kidney scans) it was felt that informing family members is important. However, whether to get tested is an individual’s choice.

It was wonderful to see the community coming together with a common goal of raising awareness and advancing research into BHD. Through sharing stories and experiences, we can learn from one another and identify the areas of research that are needed to advance our understanding of BHD and ultimately find a cure.

We look forward to seeing you at next year’s research-focused conference. We are delighted to announce that it will be a hybrid event, so everyone can take part. It will be held both online and in London, UK.

Read part 1 of the BHD Community symposium report to find out about the current research into BHD.  

Early diagnosis of Birt-Hogg-Dubé syndrome (BHD) is vital so people can be monitored for kidney cancer. However, many doctors have never heard of the condition, so it often takes people years to be correctly diagnosed. At the BHD Foundation we work alongside the community to raise awareness of this rare and important condition. 

Social Media

Social media is an effective way to increase visibility of BHD, often reaching new and varied audiences. This year we have taken part in several awareness days and social media takeovers. In January we took over the Medics 4 Rare Disease (M4RD) Instagram page. M4RD is a charity which educates future doctors about rare diseases. 166 people viewed the BHD content. Only 1 in 8 of those who completed the poll following viewing had previously heard of BHD. This shows the potential to raise awareness among medical professionals.

This was followed by Rare Disease Day in February. On Rare Disease Day we published Lea’s BHD story ‘From Collapsed Lung to Ironman’ with digital health company Congenica. Her empowering story shows how important it is for rare conditions to be recognised and why on Rare Disease Day we need to come together and raise awareness.

Our most successful awareness day so far was World Pneumothorax Day on June 30th. This is a day that we spearheaded in 2021 to mark the launch of the NHS Familial Pneumothorax Rare Disease Collaborative Network. World Pneumothorax Day is now a worldwide event. This year several major charities got involved on social media including the European Lung Foundation and Lung and Asthma UK. Additionally, a member of the community Joanna shared her BHD story ‘Married on a mountain with a collapsed lung’ with us, which was published in Rare Revolution Magazine. It was one of their top blogs with 375 reads on the week it was published. That is 375 more people who will have heard of BHD. 

Leaflets and Conferences

We develop educational resources about BHD for doctors. This year we created a BHD awareness leaflet (a printable version is also available). This leaflet is designed for doctors who have never heard of BHD. It gives an overview of the symptoms and recommendations on what to do if BHD is suspected. This leaflet was shared on a virtual platform at the European Respiratory Society Congress and WONCA, the general practitioner conference. We hope to take it to many more events in the future including in-person conferences. Our focus will be lung, kidney and skin conferences.  However, we will also target other doctors who may see the symptoms of BHD. This includes radiologists, emergency medicine doctors and general practitioners.  

We also have patient leaflets. They provide information on the symptoms of BHD and how to treat them. Although they are aimed at patients, they can also be a useful introduction to BHD for doctors.  You are welcome to print them out and take them to your doctor appointments.

Podcasts

Earlier this year we were interviewed for a Rare Disease Podcast called ‘Wait How to Do You Spell that?’ with Patient Worthy. In the podcast we discussed BIRT, the new BHD patient registry, and the work of the BHD Foundation.

Talking about BHD on different platforms allows us to reach a wider audience and further educate people about BHD.

How can you get involved in raising awareness?

We publish personal stories about BHD on our website. It can be a really impactful way to raise awareness. We’ve also had feedback from the community about the importance of hearing from others about their lived experiences of BHD. 

If you would like to share your BHD story please email us or message us on FB. This can be in the form of a written or video interview or a short film.

You can also raise awareness by:

• Directing your doctors to our webpage or giving them one of our leaflets. 
• Taking part in awareness days.
• Sharing our social media posts.
• Fundraising for BHD. Visit our ‘Get Involved’ page to find out more about our new fundraising campaign.

Thank you to everyone who has helped us to raise awareness of BHD. By raising awareness more people will be diagnosed, more funding will be available for research and we will move closer to new therapies and eventually a cure. Let’s work towards a future with increased awareness of BHD together.

If you have any ideas on how to raise awareness we’d love to hear from you. Email us at contact@bhdsyndrome.org.

We are looking forward to welcoming you to the 2022 BHD Community Symposium. The event takes place online on Saturday 8^th October. Everyone is welcome including people with BHD, friends, family members, doctors and researchers.

We have a very exciting lineup this year with experts from across the world sharing their research.  We have been working with speakers to ensure the talks are pitched at a level which is accessible to everyone. There will also be plenty of opportunities to ask questions and we want you to get involved!

Join us at our research sessions and:

• Discover more about the genetics of BHD and what we can learn from registries.  
• Explore why certain people get certain BHD features and others do not.
• Hear about why lung cysts may develop and how lung collapses may occur.
• Learn about what happens in BHD kidney cancer and new treatments that are being investigated.
• See how together we can make our voices heard and raise vital awareness of BHD.

We will also be hosting Meet the Expert sessions where you talk with BHD experts about BHD. Send your questions in advance or ask them on the day.

View our full programme to find out more about the day.

Tickets are available at: https://www.eventbrite.co.uk/e/bhd-community-symposium-tickets-327400422477

A recording will be available to all registered attendees after the event. Therefore, if you are unable to make it but are interested in any of the sessions we recommend registering.

Please contact with any questions at contact@bhdsyndrome.org

We look forward to seeing you on Saturday 8^th October.

Full programme

Recently several papers have been published about kidney cancer that are relevant to Birt-Hogg-Dubé syndrome (BHD). In this blog, we summarise the papers and share what we can learn from them.

Is surgery or active surveillance better?

There are many different types of kidney cancer. The most common types seen in BHD are chromophobe, oncocytoma or a mixture of the two. These cancers are often slow growing, and they rarely spread. A recent paper described a case of oncocytoma and discussed whether it should be managed with active surveillance (regular scans to monitor tumour growth) or surgery.

The case described a 66-year-old man who was admitted to hospital with back pain. A CT scan showed he had tumours on both kidneys. The biggest was 3.3 cm. Due to its large size, they were concerned it may spread to other parts of the body. This is because larger tumours are more at risk of spreading.  Therefore, he had a partial nephrectomy (a type of kidney surgery) to have it removed. Samples of the tumour were then analysed, which revealed a slow-growing oncocytoma. At this point, as the cancer was shown to be an oncocytoma, the patient was given options for the smaller tumours. Either he could have them removed or have active surveillance. He opted for the surgery.

The researchers reviewing this case agreed that surgery was the best treatment option for the large tumour. However, they suggest that active surveillance may be the best option for smaller oncocytomas. This is because tumours under 3 cm are very unlikely to spread so the benefit of surgically removing them does not outweigh potential complications caused by surgery.  

Although this paper is not about BHD it does comment on a type of kidney cancer seen in BHD. It explains that oncocytomas are very unlikely to spread and that active monitoring is often the best option. This is in line with current BHD recommendations that suggest active kidney surveillance until tumours research 3 cm and then surgery.

Is active surveillance cost-effective?

The next study explored whether active surveillance of the kidneys, in conditions that predispose to kidney cancer, is cost-effective. They focused on a condition called HLRCC. Like BHD, HLRCC can cause kidney cancer. However, in HLRCC the tumours tend to grow more quickly and appear in younger people. The team assessed the cost-effectiveness of doing a yearly MRI scan in HLRCC compared with doing no MRI scans. They looked at a range of different age groups from 11 to 60. To determine if the scans were cost-effective, they assessed the effect of the scans on quality and length of life in addition to the monetary cost. They found that active surveillance was cost-effective across all age groups. Although this paper did not look at BHD, BHD does share similarities to HLRCC. Therefore, it suggests that active surveillance in people with BHD may not only positively impact their lives but be cost-effective. Before a study can be done looking at the cost-effectiveness of active surveillance in BHD, further research is needed to determine how often people with BHD should be screened.

Are there alternatives to surgery?

Lastly, we looked at a review of another type of kidney cancer called renal angiomyolipoma (rAML). rAML is a rare type of kidney cancer that is sometimes seen in BHD. Similar to the other types of cancer seen in BHD it is normally slow growing and active surveillance is recommended. Once it reaches a certain size it is then often removed by surgery.

rAML is also seen in tuberous sclerosis complex (TSC). TSC is a rare genetic condition that shares many similarities to BHD (read our recent blog post where we discuss what TSC can teach us about BHD). In addition to active surveillance, people with TSC-associated rAML can be offered a drug called an mTOR inhibitor. mTOR signalling is involved in cell growth and survival and is often overactive in cancer. mTOR inhibitors block this activity and are used to treat cancers. They are used in TSC-associated rAML to reduce the size of tumours and delay the need for surgery. Research into mTOR signalling and BHD is still ongoing so the benefit of mTOR inhibitors in BHD is unknown. However, this paper demonstrates that treatments are being developed for rare cancer types and that further research into BHD may one day find an alternative treatment to surgery.

The one stark similarity between all these papers is how there are no clear guidelines on when slow-growing kidney cancers, such as those seen in BHD, should be removed. Current research into BHD suggests it should be when they reach 3 cm. At the BHD Foundation, we want a clear answer to this question. We have launched the BHD syndrome International Registry (BIRT) to help us collect as much information about BHD as possible and drive forward research. Take part in the registry now.