June 2016


BHD Personal Story: Caroline is from Germany and was diagnosed with BHD in 2012.

1. When and how did you first get diagnosed?

I was diagnosed with BHD in June 2012 by undergoing genetic testing at the University of Birmingham Gene Research Unit within the Queen Elisabeth Hospital Birmingham in the UK.

2. What symptoms prompted the BHD diagnosis?

From my late twenties to early thirties, I began to notice the gradual appearance of small raised patches (lesions) on my face and lower neck. At first, the changes in my skin didn’t really affect me and I very rarely thought about it, particularly as I wear make-up every day and was able to cover the blemishes very well. However, I moved to Germany with a new job in July 2012 and a few months before I left the UK, I decided I would investigate whether there was any treatment for my skin. After an initial consultation with a dermatologist and a subsequent skin biopsy, I was diagnosed with perifollicular fibroma. I asked the consultant whether there was any underlying reason why this change to my skin had occurred. I was told that it was simply a fact of life and although laser surgery was an option, it was not really advised as the success rate in my case would probably be quite low. However, I am an inquisitive individual and after a short time researching perifollicular fibroma on the internet, I soon came across the BHD Foundation website. From the second I looked at the homepage, I was fairly certain I had discovered the root cause of my perifollicular fibroma. This was only reinforced when I discovered the other symptoms of BHD, as my mother had previously suffered from three pneumothoraces and two occurrences of kidney cancer – both resulting in surgery and in the latter case, the complete removal of her left kidney.  It didn’t take much to make the connection.

3. What impact did the diagnosis have on you?

To be honest, the diagnosis was not a huge surprise, as the symptoms of BHD correlated very strongly with my family’s medical history. It answered a lot of unexplained questions for me and in particular, put the health problems my mother has suffered over the course of several years into context. It most definitely confirmed the need for regular screening and contact with a specialist who can advise on the condition. Above all, it was quite reassuring, in the sense that we now know what we are dealing with and can react knowing the full facts.

4. Have you explained BHD to family members?

Yes, my mother’s cousin has been informed of our diagnosis.


5. Where did you go for more information on BHD syndrome?

One of the best sources of information has been the BHD Foundation website. I very much enjoy reading the personal stories and written interviews from others who have a similar diagnosis. I believe sharing experiences can be incredibly helpful, particularly if someone is struggling to come to terms with a recent diagnosis, and encouraging in the sense that you can reach out to others for support and guidance when needed. I am also fortunate to have access to a wonderful team of doctors at the local University Hospital who specialise in BHD as part of their research into human genetics. They have been an incredible support in helping me understand more about BHD and their ongoing clinical research into the condition.

6. Do you have advice for people who are looking for a diagnosis?

If someone believes they, or a close family member, have the symptoms of BHD, I would encourage them to get tested immediately. There should be no fear in being diagnosed and it is always better to know if you have the condition, so you can receive regular screening and take pro-active treatment to address any underlying illness at the earliest opportunity. If there are no recognised BHD specialists in the local area, then I would recommend speaking to a medical practitioner or health advisor. They probably won’t have heard of BHD in the first instance, so it would be necessary to prepare some information for them on the condition and lobby for them to take further action. In my experience, this happened on one occasion and as soon as I showed one of the BHD pamphlets to the medical practitioner, he could appreciate why I was asking to be screened.  I also think it is my duty to educate and inform medical professionals as much as I can, as future patients they are treating may show symptoms of BHD and they will hopefully make the connection.


7. What are your current symptoms?

At the moment, I have small raised patches (perifollicular fibroma) on my face, neck and collarbone and some small cysts on my lungs and left kidney. Thankfully, there have been no significant changes in the cysts for the past four years.

8. What treatment are you having, and have you had?

I have not had any specific treatment for my condition but undergo regular screening every year, which currently involves a CT scan on my lungs once a year, an MRI scan on my kidneys every six months (alternating with an ultrasound for the next six months) and a full body check on my skin with a dermatologist every six months. The latter also includes a visit to the photo laboratory in order to keep a visual record of the skin patterns caused by perifollicular fibroma. Last year, my doctor also recommended I undertake a colonoscopy, which I arranged as a day patient through a local hospital.

9. How did you find a doctor?

I initially found a doctor in the UK through the contact list on the BHD Foundation website but after my move to Germany, a simple research engine enquiry led me to discover that the BHD research centre for Germany is actually based in the city I live in! Therefore, through the University Hospital and its Centre for Human Genetics, I was able to identify a doctor specialising in the condition in my local area.

10. What has been your experience of the healthcare system and healthcare professionals?

Overall, my experience of the healthcare system has been very positive. In the UK, my diagnosis was a relatively straightforward process with little delay and in Germany, I could not have received better care and information from the healthcare professionals I am in contact with. I am fortunate to have such specialists on my doorstep and I know that if I have a query or concern about any aspect of my health, I can contact them and expect a reply within a day or so. This is exceptional and I feel very fortunate to be able to have access to such qualified BHD experts.

11. Has BHD had any health insurance implications for you?

No, all my current screening and appointments with my specialists are covered under my current health insurance policy. In this respect, I know I am very lucky compared to others who may struggle to get their screenings and any treatment covered by their insurance company.

12. What are your thoughts for the future?

Being diagnosed with BHD has not changed my behaviour in any way or stopped me from doing anything that I wanted to do. My outlook on life continues to be positive and in fact, my diagnosis has made me even more aware of the need to appreciate life and be thankful for the good health I currently enjoy. Of course, there are times when I think of what the future may bring, particularly as I am at the very age now when my mother had her first pneumothorax. However, I am confident that by having regular screening every year, I am doing everything I possibly can to care for my health and avoid any potential illness as I grow older.

13. What advice would you give to someone who has just been diagnosed with BHD?

I would encourage them to make sure they have regular check-ups, particularly in the case of the kidneys, and seek advice from specialists in their local area and/or region, where possible. I would also advise them to make use of the excellent BHD Foundation website and its many helpful research papers to not only inform themselves but their family members and loved ones. BHD is not something to be scared of and although it is still a relatively unknown, and undiagnosed, condition, the more information you can read to educate yourself and others, you will understand much better what you are dealing with and how to manage it.