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.
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.
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.
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.