BHD 2022 Survey Results: You Said – We Did

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 1st 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:

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 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.

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.


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.  

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.

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

Monitoring and Treating Inherited Kidney Cancer

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.

Does Gender Affect When You are Diagnosed with BHD?

On average it takes 5 years for a rare disease to be diagnosed. For people with Birt-Hogg-Dubé syndrome (BHD) this means routine kidney screening often starts later than it should. The causes of delayed diagnosis have been linked to a lack of awareness of the condition. However, a recent study from Germany also suggests gender may play a role in how quickly someone is diagnosed with BHD.

Between 2005 and 2021, 158 people with BHD were recruited to this study from the Munich BHD clinic. Data was collected about their diagnostic journey and the researchers compared how this differed between men and women. To ensure that the two groups could be accurately compared there was an equal number of women and men in the study (79 of each). Additionally, the spread of ages was similar in each group and included both children and elderly people. 

Firstly, the researchers looked at what age people were diagnosed. Typically, women and men were diagnosed in their late 40’s/ early 50’s. On its own this does not tell us much as the symptoms of BHD can occur at any point. The important question is how long after the first symptom of BHD was this diagnosis made. The researchers looked at each symptom and found the following:

  • The delay between fibrofolliculomas (skin bumps) as the first symptom and diagnosis was:
    • on average 18 years for women
    • on average 16 years for men
  • The delay between a lung collapse as the first symptom and diagnosis was:
    • on average 17 years for women
    • on average 18 years for men
  • The delay between kidney cancer as the first symptom and diagnosis was:
    • on average 6 years for women
    • on average 3 years for men

Looking at this data the first thing to note is that the time between the first BHD symptom and diagnosis is large. This is particularly stark in people who had skin bumps or lung collapses. Lung collapses are often treated in hospital, so this is an opportunity to diagnose BHD. The fact that it is missed suggests that doctors may not be aware of it.

As would be expected from these results the authors also found that the first symptom of BHD was very rarely the symptom that prompted the diagnosis. 1 in 10 men were diagnosed with BHD after their first symptom. Whereas only 1 in 100 women were diagnosed with BHD after their first symptom.

 ‘The occurrence of the first typical symptoms and diagnosis of Birt-Hogg-Dubé syndrome on average is much too long, but even longer in female compared to male patients. It is therefore necessary to create more awareness both for this rare syndrome and for the possibility of gender bias.’

Professor Ortrud Steinlein, Institute of Human Genetics, LMU Munich

We spoke to the lead author Professor Ortrud Steinlein about these results and why there may be a difference between the men and women being correctly diagnosed with BHD after their first symptom.  ‘The occurrence of the first typical symptoms and diagnosis of Birt-Hogg-Dubé syndrome on average is much too long, but even longer in female compared to male patients. It is, therefore, necessary to create more awareness both for this rare syndrome and for the possibility of gender bias.’ Gender bias is seen across healthcare with women often being underdiagnosed and receiving fewer investigations than men. Professor Steinlein suggests that it may also occur in BHD.

The researchers also asked which symptom prompted a diagnosis of BHD. The answer is none of them. Instead, it was having a family history of BHD. All of the people diagnosed through family history had symptoms of BHD that had been missed. 

This study shows that many people wait years to be diagnosed with BHD and that women are less likely to be diagnosed after they develop their first symptom. This delay means people are at risk of developing more advanced kidney cancer. Most cases of BHD-associated kidney cancer are slow growing so by having regular screening it can be well monitored and treated when it reaches a certain size. This is why it’s so important to raise awareness of BHD.

Although the data paints a picture of delayed diagnosis it does cover a large time period. The researchers are hopeful things are changing. The number of people who attended the Munich BHD clinic has increased in the last 15 years from around 4 people a year to 35 people a year. Additionally, in the last five years, there has been an increasing number of people who have been diagnosed with BHD shortly after developing kidney cancer. This suggests there is an increased awareness of BHD. The authors noted that this could be due to an increased number of BHD publications in healthcare newsletters/magazines.

Although reaching a diagnosis of BHD can take years it seems that things are improving. At the BHD Foundation, we will continue to raise awareness of BHD so that people can be correctly diagnosed and receive the care they need.

Married on a Mountain with a Collapsed Lung

Joanna got married 7500ft above sea level at the top of a mountain. She didn’t realise the pain in her shoulder was her lung collapsing and that she had a rare condition called Birt-Hogg-Dubé (BHD) syndrome.

We have partnered with Rare Revolution to tell her incredible and inspirational story and raise awareness of the rare causes of pneumothorax.

You can also watch her story below:
Video Transcript

Being a doctor with BHD

Dr Bob was diagnosed with BHD after a routine scan accidentally picked up a mass on the top of his kidney. In this interview, we discuss how being a doctor affects his perspective of BHD, how we can raise awareness of BHD among doctors and the importance of being a patient advocate.

The transcript is available here.

Resources discussed in the interview.

Information resources for people with BHD

Information resources for researchers and doctors

BHD and COVID-19

Having a rare lung condition can feel scary. Having a rare lung condition during the COVID-19 pandemic adds another layer of complexity.  You may have many questions about BHD and COVID-19. In todays blog posts we summaries what the expert advises regarding BHD and COVID-19.  We also interviewed BHD patient Anna Marie Dowling about her experience getting COVID-19 with BHD.

Lung Specialist, Professor Stefan Marciniak (University of Cambridge) discussed whether COVID-19 increased the risk of lung collapses in BHD patients. He reported that in his clinic he had not seen an increase in cases and was only advising his lung collapse patients to shield if they had severe lung diseases (most of his BHD patients did not fall into this category).  He also recommended that everyone should get the COVID-19 vaccine. You can read the interview with Stefan here. He also spoke about this at a Meet the Expert event last year, which is available to watch on our webpage.

Similarly, the International Kidney Cancer Coalition provide advice on the vaccine. They are an international charity supporting people affected by kidney cancer. They advised that the benefit of the vaccine outweighs the risk and that any concerns should be discussed with a doctor. Read their statement here.

Hearing from experts is important but we also wanted the patient perspective. Anna Marie Dowling is 55 years old and lives in Ireland.  We interviewed her about her BHD diagnosis and catching and recovering from COVID-19.

What were the events that led to you seeking a genetic test for BHD?

In 2015 my then 80 year old father, who has COPD (Chronic Obstructive Pulmonary Disease), was referred for genetic testing for BHD by Professor Michael Keane, Consultant Respiratory Physician, St. Vincent’s University Hospital, Dublin as he suspected my father had the condition. My father tested positive for BHD and was provided with a letter from the Department of Clinical Genetics at Crumlin Children’s Hospital, Dublin to send to family members to inform them about the condition. On hearing of my father’s diagnosis both my sister and I immediately assumed we likely had BHD given that it is autosomal dominant and that both of us had experienced spontaneous pneumothoraces in our 40s (my sister eight times). We were keen to have this clarified and to start the monitoring process and so we sought genetic testing which confirmed what we had suspected. Thinking about our family we recalled that both my father’s lungs collapsed immediately following a quadruple (heart) bypass in his early sixties. At the time we had simply attributed this to the surgery. My father’s brother had also experienced a collapsed lung when lifting a heavy carcass when working as a butcher in his younger days. We have another sibling, my brother who chose not to be tested and so far, on the verge of 50, has had no symptoms.

What happened when you had a collapsed lung? What were your symptoms and how was it treated?

I am asthmatic and get frequent chest infections for which I am generally prescribed antibiotics and steroid tablets in addition to my regular asthma medication. In 2007 I had a bad chest infection which was not clearing. I consulted my GP several times who finally sent me to the Medical Assessment Unit at Mayo University Hospital. I had no pain but I recall walking from the hospital carpark to the hospital and coughing the whole way. At the unit I was sent for an Xray and I seemed to be waiting quite some time in the changing room after the Xray. When I was called and opened the door there was someone waiting for me with a wheelchair. I got the fright of my life. I asked if they had found something and the man said yes but said that it was something that could be rectified. My experience of having the drain inserted was a difficult one. I found it quite traumatic. The first two insertions in two different locations were unsuccessful necessitating a third attempt, this time by the surgical team, which succeeded.  I was terrified to sleep that night while I had the drain in case it fell out and had to be reinserted. Following a few days in hospital and removal of the drain I was discharged home. It took me quite some time to fully recover as I was very tired following the experience and, possibly due to poor breath control, developed problems with talking due to hoarseness. I was diagnosed with vocal chord nodules and had to undergo sessions of speech and language therapy. I was off work for two months in total.

Since you’ve been diagnosed with BHD how have you managed the condition?

Since diagnosis I have followed the monitoring guidelines. I get regular MRI kidney scans and consultations with the renal consultant. So far all my renal scans have been clear thankfully, though my sister who is 13 months youngers has some small kidney cysts. I have regular check-ups with my respiratory consultant also and as there is a family history of colon cancer (my father, his sister and his mother) I have regular colonoscopies. I don’t seem to have any skin lesions. I think I probably had a consultation with a dermatologist early on but can’t fully recall now. For the first few years after my collapsed lung I was terrified every time I got a chest infection that I would get another collapsed lung. That fear has subsided considerably now but I never delay getting treatment when I get a chest infection.

How did the COVID-19 pandemic change this?

I was advised to cocoon/shield at the start of COVID-19. I am a health care professional but fortunately, due to the nature of my work, I have been able to work from home. My Occupational Health department have recommended this and my manager and colleagues have been very supportive (*Note from the BHD Foundation: Shielding is not recommended specifically for BHD patients, however each individual case is different and your doctor will be able to advise further if you have any questions). It has been isolating as I live alone but I have felt safe because of this. COVID-19 has been frightening due to the uncertainty of how it could affect me. I was delighted to get the vaccines and am currently triple vaccinated.

“COVID-19 has been frightening due to the uncertainty of how it could affect me. I was delighted to get the vaccines and am currently triple vaccinated.”

What were your concerns about getting COVID-19 with BHD Syndrome?

My main concern about getting COVID-19 with BHD was how it would affect my chest and would it cause a collapsed lung. I understand that COVID-19 affects the same part of the lung as where the BHD cysts are usually located. (*Note from the BHD Foundation: COVID-19 can affect the whole lung. BHD cysts are normally found at the base of the lungs).  I also was fearful that if I needed ventilation that that would be problematic due to BHD as there would be an increased risk of pneumothorax with ventilation and that might affect my chances of recovery (*Note BHD Foundation: Read more about lung collapses and COVID-19 here). I thus kept my contacts to an absolute minimum and apart from my father and my partner, only met one or two people outdoors and wearing a mask.

What happened when you got COVID-19 and how was the recovery process?

Despite barely meeting anyone in two years I somehow contracted COVID-19 after Christmas this year. I had no contact with anyone who tested positive so have no idea how I caught it. I live alone so isolating was not a problem. I tested positive on an antigen test the day prior to developing symptoms. As soon as I developed symptoms I contacted the out of hours doctor and asked for a prescription for steroids as COVID-19 went straight to my lungs (*Note from the BHD Foundation: Steroids are not a standard treatment for people (including BHD patients) who develop COVID-19. It depends on severity of COVID-19 symptoms and medical history. Discuss with your doctor if you have any concerns). These definitely helped, though as they are immunosuppressive, there is caution in prescribing these with COVID-19. I have a nebuliser at home because of my asthma and I used that when I was struggling with coughing. I also monitored my pulse rate and oxygen saturation regularly. While I had a headache one or two days and gastric symptoms one day, my respiratory symptoms were the main issue. It was a little frightening not knowing how the COVID-19 would progress as I was aware that things can take a turn for the worse in the second week. The second week was certainly more difficult for me in that I was more fatigued and had muscle weakness. However, unlike when I have a regular chest infection and am awake coughing during the night, I managed to sleep well each night with COVID-19 which was a relief. I also got up, showered and dressed each day as I felt it was better to be up and moving around than lying in bed. I was back working from home after two weeks though I was tired and also developed an earache which lasted for a further week. I am fully recovered now thankfully.

“Unlike when I have a regular chest infection and am awake coughing during the night, I managed to sleep well each night with COVID-19”

What advice would you give to someone who has been newly diagnosed with BHD?

I would say not to panic. I believe knowledge is power. Everyone has something or will develop some health problem at some stage and knowing what we are susceptible to developing means that we have an advantage as we can be monitored and catch things early if they develop. I would say don’t delay seeking help if you have suspicions that you are developing a collapsed lung as the treatment can be less intrusive if the collapse is partial as opposed to complete. I would also say not to get caught up in fear about it and live your life and enjoy it. I understand BHD is not a life-limiting condition which is good to know. Also, inform people about the condition as not many people know about it. My respiratory consultant had not heard of BHD before I told him about it but I found out at a later appointment that he had subsequently diagnosed people with it. Also, it’s important to let your family members know about it in case they may have it.

How can the BHD Foundation support the BHD Community?

It is great to have an organisation in relation to our condition. I think educating the public and doctors about BHD is important as, given the inheritance mechanism, there must be many people out there who have BHD but are not aware of it. The more people know about it the greater likelihood that those with BHD will get the correct diagnosis and there will be a better chance of more research into the condition.

We greatly appreciate Anna Marie sharing her experience of having COVID-19 with BHD. 

If you have any questions about BHD and COVID-19, please contact us at contact@BHDFoundation.org