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.
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.
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.