New Techniques to Understand BHD Kidney Cancer

Birt-Hogg-Dubé syndrome (BHD) is associated with an increased risk of kidney cancer. Currently, people with BHD should get their kidneys monitored regularly to check for tumours. If these tumours reach 3 cm, surgery is done to remove them. However, there may be some situations where surgery isn’t appropriate. Therefore, there is a need to develop new treatment strategies for kidney cancer in BHD. To do this, we need a good understanding of how kidney cancer develops in BHD. This includes knowing which type of kidney cell the cancer came from and how these cells differ in their gene expression patterns.

A study published earlier this year looked at different inherited kidney cancers at a single cell level. This means looking at the individual cells that make up the cancer. They did this by taking samples from kidney tumours that were being surgically removed. In this study, there was one chromophobe kidney cancer tumour and one hybrid oncocytic chromophobe tumour (HOCT) from people with BHD. They then split the tumour into individual cells and used a technique called RNA sequencing.  This technique tells us which genes are turned on or off in cells. Doing this at a single cell level (instead of the entire tumour) allows us to know what is happening in each cell. This is important because tumours are complex and made up of many different cell types. A “map” can be created from the RNA sequencing data, where each cell is placed based on which genes are turned on in that cell. The cell type can be identified based on which genes were found. Cells that have similar genes turned on will be close to each other on the map. On this map, the researchers found that cells from BHD kidney cancers were close to a type of kidney cell called collecting duct. This suggests that BHD kidney cancers may originate from this cell type.

Next, the researchers looked at which genes were turned on specifically in the different types of BHD kidney cancer. It is common to only know which type of kidney cancer you have after surgery to remove the tumour. However, it may be useful to know which type of kidney cancer you have before treatment as this may influence the treatment you get. For example, different types of kidney cancer grow at different rates and some are more likely to spread than others. The researchers found that different genes were turned on/off in chromophobe cancer vs HOCT. In the future, a test may be able to look for these genes to identify which type of cancer a person has. Of particular interest, the authors of the study also identified a gene called MET found at high levels in BHD kidney cancers compared with other kidney cancers. There are already MET inhibitors that are approved for treating cancer, including kidney cancer. Therefore, the use of these inhibitors should be investigated further in BHD kidney cancer.

Altogether, this study used the latest technologies to further understand inherited kidney cancers. We look forward to seeing more research to understand how kidney cancer develops and how it can be treated in the future.

Can I Fly with BHD? – Katty’s BHD Story

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.


Autumn Case Reports

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 cancer in BHD patients. 

BHD is characterised by skin bumps (fibrofolliculomas), lung cysts, collapsed lungs and kidney tumours. The kidney tumours are normally slow-growing so with regular scans they can be monitored and removed if they reach 3cm. At the BHD Foundation, we often get asked if BHD is associated with any other cancer types. This is a difficult question as 1 in 2 people will get some type of cancer in their lifetime and most of these people do not have BHD.  Therefore, how do we determine if other cancers are caused by BHD or are unrelated?  

The case reports below describe two different types of cancer in people with BHD. A case study on its own cannot prove a link between BHD and a cancer. To find a link you need lots of data. This is where the BHD syndrome international registry (BIRT) comes in. BIRT is a patient-reported database where patients can upload information about their BHD. This data will feed into research and help answer vital questions. The reason case studies are still important is they can help researchers to identify areas of potential research.  

Cancer in the adrenal gland

The first case* described a 38-year-old man with a tumour on his left adrenal gland. The adrenal glands are two small glands that sit on top of the kidneys and produce hormones. Further investigations led to a formal diagnosis of a rare type of cancer called adrenal cortical carcinoma (ACC). In other words, cancer in the outer layer of the adrenal gland. He was treated with surgery and chemotherapy.

The next step for the clinicians was to find out why he developed this cancer. ACC is a rare cancer and is linked to genetic conditions including Li-Fraumeni syndrome. Therefore, they performed genetic testing. The test revealed a mutation in the gene folliculin (FLCN). Variants in this gene cause BHD. A diagnosis of BHD was further supported by the finding of skin bumps and lung cysts.

Once the diagnosis of BHD was confirmed, the doctors speculated on whether there could be a link between adrenal gland cancers and BHD. So far 5 cases of adrenal gland cancer have been reported in BHD patients including one other case of ACC.

Follicular Dendritic Cell Sarcoma

The next case discussed a 34-year-old man with low iron and blood in his stools. He had a camera test to check the inside of his bowels and they found a mass. He had surgery to remove the mass and was then diagnosed with a rare cancer called follicular dendritic cell sarcoma (FDCS). FDCS is a cancer that develops from specialised immune cells. It normally occurs in lymph nodes but can occur anywhere in the body including the digestive tract as seen in this case.

Next, the clinicians investigated the cause of his cancer. The patient had an extensive family history of cancer which suggested there may be a genetic component.  He was tested for several cancer-causing genes and had a positive FLCN mutation. Similar to the previous case, he was then found to have skin bumps to support a diagnosis of BHD.

This is the first case of FDCS to be reported in a BHD patient. It must be noted FDCS is very rare cancer with only 32 cases of FDCS in the digestive tract reported. The authors felt that it was unclear whether BHD was the cause of the FDCS or if it was just a coincidence that the patient had the mutation.  

Key messages

These case reports describe two rare cancers in people with BHD. However, as discussed above this does not mean that they are caused by BHD. As more data accumulates in the registry we can start to build a clearer picture of whether any other cancers are associated with BHD and if any other cancer screening is needed.

These cases also highlight the need for increased awareness of BHD. Both patients had skin bumps before their cancer diagnosis. However, neither of them had been investigated for BHD. However, it is promising to see FLCN included in genetic cancer screens. By being diagnosed with BHD, even if it had nothing to do with their symptoms, both patients will receive vital monitoring of their kidneys. This means if they do develop kidney cancer in the future it will be identified and treated as early as possible.

*Please note this paper is unfortunately not freely available. Please email contact@bhdsyndrome.org if you have any questions.

BHD Community Symposium Feedback

The BHD Foundation was delighted to host the BHD Community Symposium online on October 8th, 2022. If you couldn’t attend, you can read our research report and our advocacy report. We will be making the recording available to all registered attendees very soon.

We asked attendees to complete a short survey at the end of the symposium to provide their feedback. This feedback will help to inform future events. We had 19 responses, 7 from researchers and/or clinicians and 12 from people with BHD. We were thrilled that everyone found the symposium useful and that they learned something new. We asked people to vote for their top 3 sessions. The most popular sessions were

1. Research Talks – we heard from researchers around the world discuss their work on BHD
2. Meet the Experts – we had 3 ‘rooms’ featuring a Q&A with skin, lung and kidney BHD experts
3. ‘BHD and Me’ – a patient-led panel discussion where people with BHD shared their lived experiences

Importantly, everyone thought that the research talks were clear. As this event was designed to be accessible for all members of the BHD community, this was a priority for us. However, the proportion of people who strongly agreed with the statement ‘The research talks were clear’ did differ between researchers/ clinicians and people with BHD. Over half (4/7) researchers/ clinicians strongly agreed that the research talks were clear. A quarter (3/12) people with BHD strongly agreed that the research talks were clear. Everyone else that provided feedback agreed with the statement. At future community-focused symposiums we will strive to improve this statistic.

We also asked 3 open questions:

1. What did you like about the BHD symposium?
2. How could the symposium have been improved?
3. What would you like to see at next year’s symposium?

The responses to the first question have been used to create the word cloud you can see in the poster below and we have included select responses at the end of this blog. When asked how the symposium could be improved, the overwhelming response was that you wanted more! There were requests for more research and longer research talks, more patient testimonies and more opportunities for networking. Another common response was accessing the symposium due to time differences. As a charity that supports people with BHD around the world, we understand that time differences can be challenging. We had over 200 people from 22 different countries registered for this year’s symposium. To reach as many people as possible we recorded the event. We are making the recording available to everyone who registered very soon to watch at your convenience.

When asked what you would like to see at next year’s symposium, again the response was that you wanted more! The feedback we got requested more research, sessions on the treatment of BHD and more panel discussions. There was also a request to feature more work from underrepresented countries. This year, we were delighted to have researchers from 8 different countries present their work. Next year, we hope to welcome even more researchers.

Luckily, our symposium next year will be held over 2 days on October 13th and 14th 2023. It will be taking place in London, UK but there will also be an option to join online. Although research-focused, everyone is still invited to attend. We will be announcing further details about next year’s symposium soon. To receive updates, please sign up to our newsletter.

Selected quotes from the feedback survey in response to ‘What did you like about the BHD symposium?’:

“Breakout session enabled me to “meet” other scientists I know from reading but not to talk with. Before the end of the conference I was exchanging emails with one and may well ultimately do research with (just like after and in-person conference).”

“Perfect organisation, not easy to blend a public of patients, clinicians and researcher so well!”

“The chance to speak to experts – since my diagnosis 4 years ago I have tried to get answers to questions but have been given the wrong advice or no response. So thank you so much.”

“It is hopeful to see research is happening and get answers to some of my questions as well as more information for practitioners.”

“I enjoyed the atmosphere of being taken serious and cared for, because most doctors here in Germany have never heard of this disorder. Thank you very much for letting me attend the symposium.”

“I liked hearing about kidney cancer surgery and learning something new every time, especially when presenters can present in a way we can understand as non experts.”

“Seeing how other people from various parts of the world are together with a common goal.”

BHD Community Symposium 2022 Report – Connecting the Community  

The 2022 BHD Community Symposium took place virtually on October 8th. 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.  

BHD Community Symposium 2022 Report – Research

The first BHD Community Symposium was held on October 8th, 2022. We were delighted to have over 200 people registered from 22 countries across 5 continents for this virtual event. This year’s symposium was the first deliberately designed to be accessible to all members of the community throughout the entire event. We were thrilled to welcome people with Birt-Hogg-Dubé syndrome (BHD) and their families alongside clinicians and researchers.

There were a range of sessions from the latest research to a Q&A with BHD experts. We also held a session with members of the BHD community sharing their personal BHD stories. The opening talk featured our CEO, Anna Webb, in conversation with Sue Sherman, Director and CEO of the LAM Foundation. They spoke about the shared challenges faced by communities in the rare disease space and the importance of the patient voice when tackling them.

…it’s the voices, as we know, of our communities that really are vital to the progress of both research as well as improving treatment from rare diseases.” Sue Sherman

Raising awareness, connecting the community and inspiring the next generation of scientists were topics for discussion. There are so many things we can learn from other rare communities, but it is important to remember we are not alone. We need to work with other advocacy organisations such as the LAM Foundation to build our network and drive change. This conversation was a positive and inspiring way to start the symposium and we are extremely grateful to Sue for joining us.

BHD Research Updates

There were several sessions dedicated to the latest BHD research. To kickstart this session, we heard from Julia Thierauf, BHD community member, clinician and researcher. She gave an overview of the scientific process and how research works. Following on from this, we heard from some of our 2021 grant holders as well as researchers from around the world.

Understanding BHD

Many talks were focused around better understanding BHD as a condition and how it affects people. Bryndis Yngvadottir (UK) gave us an update on their work trying to better estimate the prevalence of BHD. BHD is associated with variations in the gene folliculin (FLCN). Looking at how many people have a FLCN variant can help us work out how common BHD is. Rates from the literature vary from around 1 in 3000 people to 1 in 500,000 people. The work presented here, looking at the 100,000 genomes project suggested that the prevalence of BHD may be closer to the 1 in 3000 people estimate.

Lore van Riel (The Netherlands) presented the need to raise awareness of BHD among doctors to improve diagnosis. BHD is the most common genetic cause of a collapsed lung. In people that have a collapsed lung for no obvious reason, BHD should be considered, especially if there is a family history. We also heard from Ortrud Steinlein (Germany) about the delay between first symptom appearance and diagnosis in BHD. We recently blogged about her work and how gender might affect diagnosis.

Liu Jie discussed their work in China to improve BHD diagnosis. They found the most common symptom was a collapsed lung. Very few people had symptoms in the skin or kidney. However, another study from a rare lung clinic in China showed a higher number of people with skin symptoms. More work needs to be done to understand any difference in symptoms between different ethnicities. A talk from Fiona Bruinsma (Australia), looked at the proportion of people with each symptom of BHD. They found that by age 70, over 9 in 10 people had symptoms in the skin and/or lungs.

Together, these projects will help us better understand how people are affected by BHD and inform diagnosis and management pathways.

Understanding Folliculin

It is vital to understand the cellular biology behind BHD. There is a lot of work being done to understand the biology of FLCN and how a loss of FLCN leads to the symptoms seen in BHD.

We heard from Ryosuke Jikuya (Japan) and Ye Yang (USA) who are both using state-of-the-art methods to look at kidney cancer in BHD at the molecular level. Their work will help us understand more about how kidney cancer develops and grows. It will pave the way for future work to develop new therapies for BHD-related kidney cancer. 

Damir Khabibullin (USA) spoke about their work looking at FLCN in the lung. Their data shows that loss of FLCN in lung cells called mesenchymal cells led to the formation of lung cysts. Understanding how lung cysts form could help inform future treatments for the lung.

Rob Wolthuis (The Netherlands) presented research identifying a new BHD-like syndrome. Their work identified the gene responsible for this new syndrome and found that it was a regulator of FLCN protein. This work expands our knowledge of how FLCN works in our cells as well as identifying a new condition related to BHD.

Treatments

Research was also presented on the treatment of BHD-related kidney cancer. Currently, the standard treatment is for any tumours to be removed by surgery when they reach 3 cm. However, there are some situations where surgery may not be appropriate. Sylvain Bodard (France) presented their work using a technique called percutaneous thermal ablation for the treatment of kidney cancer. They found this to be a safe and effective treatment for BHD-related kidney cancer.

We also heard from Dustin Armstrong (USA) who spoke about a new drug that may have benefit in treating BHD-related kidney cancer. This drug has already been tested in another condition called Pompe disease and has been found to be safe. They are now interested in pursuing research and collaborations to test their drug in BHD.

Summary

It is exciting to see the breadth and depth of research happening around the world into BHD. We were thrilled to be able to bring this research to the entire BHD community.

“The research talks were fascinating, highly informative and gives us all a lot of hope that significant advances are being made towards finding a cure and towards optimal management of BHD.”  Feedback from BHD Community Symposium attendee

Connecting all parts of the community is at the heart of the BHD Foundation. There is so much we can learn from each other, and it was heart-warming to be able to share different perspectives.

“I am getting to see patient perspectives for the first time, and simultaneously saw great cutting-edge research results. This leaves me with a lot of hope that we will one day soon be able to treat all patients efficiently, successfully with minimal invasive procedures.”  Feedback from BHD Community Symposium attendee

Our blog post next week will round-up our BHD Community Symposium report, focusing on the ‘Meet the Expert’ and ‘BHD and Me’ sessions.

If you registered for the event but couldn’t attend on the day, a recording of the event will be sent as soon as it is available. You can also still take part in the BHD raffle that was launched at the symposium. To receive the latest updates about events, sign up to our newsletter.

The BHD Syndrome International Registry – 6 Month Update

What is BIRT?

The BHD Syndrome International Registry (BIRT) is a patient registry that collects information on the diagnosis, symptoms and management of Birt-Hogg-Dubé syndrome (BHD). The overall mission of BIRT is to improve the quality of life of those living with BHD. We hope to achieve this through collecting data that will allow a consensus on diagnosis and management guidelines to be produced. Diagnosing BHD early is important to ensure that the condition is managed so that any kidney cancer is caught as early as possible.

However, for BIRT to be a success, we need as many people as possible to get involved. One of the major problems that slows down research into rare conditions is the lack of data. Through BIRT, we can provide that data to researchers to help them answer so many of the unknown questions about BHD. This is a chance for the community to come together to drive forward and speed up research into BHD.

Find out how to get involved below.

Who is currently involved in the registry?

There are currently 173 people registered from 18 countries around the world. Around 2 thirds of people registered are female and one third are male. However, we know that gender doesn’t affect who gets BHD. Therefore, we encourage you to spread the word to your family members so that they can get involved. Most people are aged between 55 and 60, however this ranges from age 20 to 85. You can also sign up on behalf of someone and complete their information by proxy.


What do we know so far?

Diagnosis

On average, people are diagnosed with BHD at age 44. However, the average age of first symptom is 30 years. This represents a huge gap between symptom and diagnosis. It also shows why we need more awareness of BHD to speed up diagnosis. Participants also reported the first time they contacted health services regarding symptoms of diagnosis of BHD. The average for this was 43 years. This suggests that people aren’t contacting their healthcare providers upon the first symptom of BHD. However, there are some caveats to this data. The main one being that this information is self-reported, and individuals may not have access to accurate health records. For example, one of the most commonly reported first symptoms is a collapsed lung (see below). It is likely that most people with a collapsed lung will have sought medical attention immediately. In the future, we plan to include clinician-reported data which will help establish the causes for the delay to diagnosis.

First Symptoms Reported

1. Fibrofolliculomas or other skin bumps (around 5 in 10 people)
2. Collapsed lung (around 4 in 10 people)
3. Kidney cancer or ‘Other’ symptom (around 1 in 10 people)

Symptoms

  • Around 8 in 10 people reported skin bumps
  • Around 7 in 10 people reported lung cysts
  • Around 5 in 10 people reported having a collapsed lung
  • Around 3 in 20 people reported having kidney cancer

This data is fairly consistent with the current literature on the proportion of people with each symptom. There are slightly more people reporting a collapsed lung and fewer people reporting kidney cancer. However, the average age of onset of kidney cancer is later than the other symptoms and so this data may change as people update the registry. This is one of the benefits of a patient registry – the ability to track how a condition affects a person over time.

Management

Skin
15 out of 62 people had treatment for their fibrofolliculomas. However, 13 out of 15 people reported recurrence of their skin bumps. Currently, there are only treatments available to remove skin bumps. There is no treatment to prevent new ones from forming.

Lung
41 out of 101 people had treatment for their lungs. The most common type of treatment was a pleurodesis (31 people), followed by a chest drain (10 people). The pleurodesis was done as a preventative measure in 11 people. Of the people who received treatment, 9 reported having a collapsed lung (in the same lung) after treatment.

Kidney
On average, people received their first kidney scan after diagnosis at age 44. This means that people were having their kidneys monitored very soon after diagnosis. Just under 9 in 10 people get regular kidney scans.

Summary

There is a huge delay between onset of symptoms and diagnosis. The reasons for this are yet to be uncovered. However, it is clear that more work needs to be done to raise awareness of BHD. Given the first symptoms commonly appear on the skin or in the lung, raising awareness of these symptoms among the general public as well as skin and lung doctors could help reduce the diagnostic delay.

More work also needs to be done to find better treatments, particularly for the skin. We are funding research to better understand fibrofolliculomas so we can identify potential therapies. In the future, we could use BIRT to help identify people to take part in clinical trials to test new treatments.

How Do I Get Involved?

We partnered with Pulse Infoframe to power the registry. Their platform is easy to use, and registration is easy.

1. Visit the BIRT website and fill out the registration form.
2. Check your email inbox and create a login to activate your account.
3. Sign the consent form.

After doing these 3 steps, you can start filling out the surveys.

We understand that there is quite a lot of information required, and it may take around an hour to complete the surveys. However, the BIRT platform is very flexible, and you do not have to do everything in one go. Your progress is tracked and is automatically saved so you can complete the surveys at your own pace. We are extremely grateful for your time and help in participating in the registry.

You can also help us by telling your family and healthcare professionals about BIRT. We have a letter you can use to tell your family members, and there is a leaflet advertising the registry to doctors.

If you have any questions or would like more information, please email us.

Let’s Raise Awareness of BHD Together

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.

Fundraise for the BHD Foundation!

The BHD Foundation is thrilled to launch our new fundraising campaign. We are raising funds to develop a new BHD Foundation website to better support the BHD community.  Our current website was created some time ago and is in desperate need of updating. The new website will be optimised for use on mobile phones and tablets and will better meet the needs of patients and families. We are working with our Patient Advisory Board who will be involved in content development, design and user testing throughout.

Prize Draw

We are delighted to announce the launch of the BHD Foundation Website Prize Draw which opened to members of the BHD Community on 07 October 2022 and will remain open until 30 November 2022.

We are so grateful to have received several kind donations from various companies and individuals. Our star prize is a week’s accommodation in a luxury cottage in the Cotswolds, UK!! Other amazing prizes include artwork, home furnishings, power tools and gift vouchers.

The Prize Draw is free to enter however there is a suggested donation of £5.00 or equivalent in your country’s currency per ticket.  All donations will be gratefully received and used solely for the development of the new BHD Foundation Website. To enter the draw and view the Terms and Conditions please click here.

Fundraise on Facebook

We are also pleased to announce that the foundation has signed up to receive donations through Facebook. This means that you can now help the foundation raise funds by asking for donations to be made for your birthday, or you can run your own fundraising campaign. Click here to start your campaign.

Create your Own Fundraising Event

Are you an avid walker, lover of baking or always wondered what it would be like to trim those lovely locks off in the name of a good cause? Then we would love you to get involved with supporting the BHD Foundation. Fundraising is a great way to not only support us, but also to have some fun and push yourself out of your normal boundaries. Have a look at our fundraising ideas for more inspiration. Let us know if you plan a fundraising event and we will support and promote you in as many ways as we can.

We also have several other ways you can fundraise or donate to us. For more information and fundraising ideas visit our new Get Involved page on the BHD Foundation website.

We will also be discussing our new fundraising campaign at the BHD Community Symposium taking place on Saturday 8th October. There’s still time to sign up and get your free ticket for the event to hear the latest research, meet BHD experts and more. Want to attend but can’t make the event live? Register for your ticket now and we will send you a recording of the event to watch in your own time!

As a charity we rely solely on donations made by members of the public and organisations. We really appreciate the support from the BHD community and look forward to hearing all your fantastic fundraising ideas.

2022 BHD Community Symposium

We are looking forward to welcoming you to the 2022 BHD Community Symposium. The event takes place online on Saturday 8th 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 8th October.

Full programme