Living in the UK with BHD

Hi, my name is Anna, I’m 31, and living in Gloucestershire, England.

Fibrofolliculomas have always been a part of my life, my Dad has always had them, and had them diagnosed as such before I was born. He also suffered 2 collapsed lungs, at the ages of 30 and 45, left side both times. When I started to develop the lumps in my early teens, we knew what it was, and thought little of it, only seeing a dermatologist to see if I could have some removed-sadly not as they are too small.

BHD was never mentioned until Dad had tests 6 months ago for something entirely different. The Dr just mentioned BHD in passing, and ever since we have been waiting for appointments and results. We are currently waiting for the results of my Dads genetics tests, if he tests positive, mine will be sent in too, though if he is positive, so am I.

Its been a battle with our GP to get the scans we need, I saw the consultant 4 months ago, and only last week did the GP agree to send for the kidney and lung scans. He also doesn’t want to send us for them annually as recommended. I realsise the reluctance before there is a firm diagnosis, but our consultant has said he will diagnose BHD for us both anyway, even without a positive genetic test, as our combined history fits it too perfectly for it not to be.

Is anyone else living in the UK with BHD? Have you hade similar problems with the NHS doctors?

I am also very worried about my future. I currently don’t have any children, and reading on the main site here, and the forums, I have seen mention of genetic councelling, and recommendations not to procreate, but it only seems to apply to the US, my consultant has even said that my future children won’t be tested til they are adults, so he seems happy for me to risk passing it on…… Has anyone here gone on to have children after a BHD diagnosis?

Many thanks.

16 thoughts on “Living in the UK with BHD

  1. Hi, I have BHD with bilateral kidney cancer, though it is now under control. I live in the US. I have two children and am no longer worried about their future. If it is caught early (or if you know to look for it) it seems to be a very manageable syndrome.
    My father was diagnosed first with fibrofolliculomas, then BHD. When I heard I had tumors in my kidneys, i knew I had BHD, which was later confirmed. My little sister now has it (after my diagnosis she started watching for it and eventually got kidney cancer…) and she has just had her first baby. Now Dad has some small tumors. But we all are watched like a hawk at the National Institute of Health in their BHD study. They remove the tumors before they spread.

    I wish you the best and will be praying for you! –Karin

  2. An aside: I got diagnosed with BHD back in 2007, after a series of collapsed lungs, skin lesions and yes, a big kidney tumor (had the entire kidney removed in 2008). Turns out my mom had BHD, as did her father. Back in the early 1990s, my wife and I went through infertility treatments and never were able to conceive a child. In hindsight, that’s a blessing! We adopted our daughter in 1995 and she’s now 17 years old. I am so thankful it turned out the way it did!

  3. My husband was diagnosed in October 2010, w/BHD. he has the Multiple cysts on Lungs, never collapsed and he has flown air. Discovered a 5 cm tumor on Kidney removed January 2011-surgery and Colon Cancer at same time, small renal cell Cancer. Took Chemotherapy for Colon Cancer that is in remission. Doing well until 2011 December. Found multiple Papillary Renal cell, Cancer in Kidney area, same Kidney as before, removed multiple tumors(metastasis)in the Kidney area. Cleaned him out well, Mayo Clinic Rochester,MN. Only seen two cases like my Husbands,one who had this suregery before my husband is still living 2 years after. There is no treatment as we know. Will be screened every 2 months. my husband is 59 years old, his sisters were screened they do not have, and we are now waiting for our childrens results.One boy and one girl in their 30’s, prayng they do not have this.

  4. Hi my name is Debbie. My family and I live in Essex in UK. My father-in-law and husband have been recently diagnosed with BHD. I have a daughter who I am now very concerned about. It appears we have been very lucky so far. Father-in-law had kidney issues years ago and is now in late 70’s. Husband is showing signs on skin but nothing else. We are having some difficulties getting any real advice and support from NHS. Happy to have found this site and speak to you all.

  5. I was diagnosed, and my father, and he moved to the US from the Ayrshire area of Scotland. Any connection to you folk in the UK? email if you want to connect. I’d love to combine family medical histories.

  6. I am originally from Scotland now living in Herefordshire. I was diagnosed in 2003. I have a long family history of BHD from father, grand-father ,great-grandfather. My GP has been great with a lot of help from DR Cole at the Birmingham Ginetics Unit, who have been very helpful and informative. Anna from Glouster if you would like any info please Email me at I have a great understanding of BHD.

  7. im lucy 38 and currently awaiting tests for bhd. my grandmother,both uncles,mother,brother and sister all have bhd. all showing the skin condition, my brother and sister both have kidney problems which i suffer with and ive had benign cysts. i live in surrey and be very nice to conect with others in the same situation.

  8. Anna again.
    Well, I got a letter from my geneticist yeaterday (Dr Donaldson from Bristol), after having asked him to chase up my results from my lung and kidney scans. I have cysts in my lungs, and on my left kidney. I had the scans back in late May, and have only heard this now!!
    I am really worried now, and not really sure what will happen next, as the letter doesn’t say. I am seeing my GP on friday to see what he thinks, but he isn’t the most helpful of GP’s, so I can see I may have to push.
    Can anyone tell me if its normal to just be told you have cysts, but not be told whet will happen?

  9. I’m Jamie, 23, from Buckinghamshire, England and was diagnosed with BHD about 2 years ago. My dad had skin lesions which were found to be caused by BHD. I have 1 full blood sister who underwent the same tests as me and my dad but she came back negative. Regarding the tests and X-rays, it’s been a nightmare here too and apparently there is a suggestion that it could also affect your bowels. So far, the specialists in Oxford know nothing about it (and hadn’t even seen a case of it) and all the info I’ve got is off the Internet. I’ve had a few chest and kidney X-rays which have been arranged annually but apparently require a colonoscopy every 5 years. Although I don’t have any signs of BHD yet, I can’t help but feel its quite restricting. I’ve planned a trip to walk up Kilimanjaro in December 2013 but would like to know from anyone as to whether this is a good idea?

  10. Hi Jamie, my sister has just been diagnosed with BHD in Oxford, and we were surprised at the efficiency so far, but the diiagnosis only came last week. Our family has suffered with spontaneous pneumothorax for years – no GP seemed interested in our case at all despite 7 out of 9 of our immediate family having regular collapsed lungs – we were just treated and sent on our way. It is only this last year when I noticed that the white lumps on my face and neck were getting more numerous that I researched what they could be and nearly fainted when I saw they were linked to our pneumothorax problem. I told my sister who’s GP was very interested and sent her for a genetic test and MRI of her kidneys straight away. The genetic results have just returned and it is confirmed BHD. My own dr sent me to a dermatologist who told me I was talking rubbish and sent me away ! I shall be going back to my Dr to get a genetic test now my sister is confirmed, as will all my cousins and other relatives.
    With regards to climbing the mountain – I personally would go for it – you can’t live your life thinking something might happen. I flew many times before getting my first pneumothorax and have flown ever since too (but not climbed a huge mountain !). The only thing I can’t do is scuba dive as it is on the medical form (pnemothorax and chest surgery)you have to sign. My Mu didn’t get her first pnemothorax until she was 43 and my gran was 63 but I was 21 – so there is no saying when or even if you will ever get one. You should be aware however of the symptoms of a collapsed lung so you can recognise it if it should happen on your climb (or at any other time for that matter)

  11. I’m also in Scotland and the side bhd looks like being from had Ayrshire connections. I had a kidney removed at 27 due to a large tumour hidden by my pregnancy and a partial lung collapse the following year, nothing since except the skin bumps. My younger brother’s lung collapsed a couple of years ago and his dermatologist made the bhd connection. We’ve all been tested now and sic reed it’s from our maternal side and all three of us siblings have it. We have 4 children between us so it is quite a concern.
    I had my second screening this year and the chest x-ray found cysts in one lung, I’m not sure of the value of the chest screen as I’m told nothing can be done about them so now after 15 years of good health I’m waiting for a collapse which could happen now or in another 10 years or never. I wouldn’t mind if the x-rays were collected for research maybe to get an idea of how many or how big they get before a collapse. My gp advised me to stop running but online all I can find is not to scuba dive or train at high altitudes so I’m thinking of just building up again gradually and trying not to push too hard. Anyone had any advice on exercise?

  12. I am in UK and happen to be a doctor. I had my first pneumothorax in 1984 at the age of 28, also started developing strange skin lesions around the same time. Few more chest drains later I was referred to a thorasic surgeon for pluradhesis, however I continued to have chest related symptoms.
    Few years later I found out my paternal uncle had a pneumothorax and later two of my sisters have had pneumothorax.
    I have seen several dermatologists, had some lumps cauterised, no one ever suggested BHD. After a bad chest infection I had a HRCT of my chest and was surprised to see the number of cysts/bullae in my lungs.
    I stopped complaining about chest pains and clicking sounds in my chest after being told I was imagining things by my A&E colleagues after a simple chest X Ray.
    I am 57 and have two grownup children, worry about the condition and am waiting to be referred to someone for confirmation.

  13. Hello, I was diagnosed with BHD about 8 years ago, although I live in south Devon now I was born in Cirencester Gloustershire, I know how very rare this condition is,so its nice to know there are others with this condition too, I would love to hear how people feel about the facial bumps, ive had laser surgery although they are returning. I am very consious of them and….does anyone else feel like this??

  14. we live in North Devon but my husband grew up in Birmingham. He has had pneumothorax and has had his lungs glued and stitched to the walls of his chest. We thought this was just one of those things until a quite recently qualified doctor saw his ‘lumpy-‘ skin and suggested he got tested for,BHD, which was conclusive. He has also had colon cancer and partial removal and also tumours on kidneys, one which has been removed and the other is now reduced to a half. Since all this both our children have been confirmed as carriers and have regular MRI’s and colonoscopies, and my husband has also been referred to a specialist in BHD at the New QE Hospital in Selly Oak Birmingham. Although we are regularly told BHD is rare, there seems to be more people diagnosed with the genetic disorder

  15. I am 23 from Yorkshire, I have had multiple collapses and a few skin bumps.. My advice for excersise is do it. I run, I lift weights I walk everywhere whilst at uni. The pros far outweighs the cons. Dont let it dictate what you do, just be aware of changes in yourself and you will be fine. many members of my family have it and have lived well in to their 80s . As for who ever told you not to procreate, that is absurd, you can have a child withBHD and raise it to have a long happy life.

  16. Hi my name is Dave I was diagnosed with bad in 2014 after suffering 5 pneumothoraxes from 2009 all on my right hand side.I had a third of my right lung removed. Since then I have had 2 on my left lung. I’m now 45years old and live in Lincoln uk

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