Hi there, my name is Wendy and I am 50 years old. My sister and I have BHD and have both had bilateral renal cancer and fibrofolliculomas. My sister had a spontaneous phneumothorax in her teens and I have had bowel polyps. I also have a condition called “sponge kidney” now, one large cyst and lots of little ones. These are monitored carefully during routine ultrasounds and CT scans.
Our renal cancer (multi-focal) was discovered accidently (four years apart) during pelvic ultrasounds. This was back in the mid nineties. My sister has had a radical right nephrectomy and partial left nephrectomy. I have had a radical left nephrectomy and a partial right nephrectomy. We were both tested for VHL but the results were negative.
No mention was ever made of BHD, however undeterred, I set out to “find” the cause of two sisters developing renal cancer in their thirties. Around the same time I had noticed several whitish lumps on my face and neck. During the course of my research I stumbled across a web page which described BHD and the associated symptoms. I approached our urologist, who quite frankly dismissed my research as he had never heard of BHD. It took a while before I decided to carry on with my research, so I arranged to have one of my “bumps” biopsied. The dermatologist wasn’t at all dismissive and was quite excited when the pathology results proved that I did indeed have fibrofolliculomas. The next step involved taking my research to our Genetic Services. I provided them with the names of researchers specialising in BHD in the United States. The Genetics team contacted the researchers who kindly provided the testing protocol and my sister and I were called in for blood tests. The first round of tests proved that we do indeed have the BHD gene.
We are not certain, but fairly confident that we have inherited the gene from our mother. Her father passed away in his early forties, from “cancer”. Our mother has not had renal cancer, but did have a collapsed lung as a young girl, she has had breast cancer (now metastatic) and uterine cancer. She has advanced Alzheimers disease so isn’t a candidate for genetic counselling or testing. So, we will never really know for sure.
Our children are aware of the need for genetic testing, but have not yet taken the step to be tested
I’m not aware of any other families in Australia with BHD, and I am yet to come across a doctor here in Western Australia who has actually heard of BHD.
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Hi Wendy,
My family is in Western Australia and a number of them have been diagnosed with BHD, they are working through the King Edward (?) hospital in Perth Dr Jack Holbrock (not sure of the spelling). I live in Victoria and have just been in contact with the Genetic clinic at the Royal Melbourne Hospital and starting my journey with them. We all have the facial lumps.
Hi Joy,
Jack Goldblatt is the the professor at our Genetic Services here in Perth, located in the King Edward Hospital complex. I took my research to him several years ago and I believe he is now responsible for all testing for BHD in Australia. Sad as it sounds, I am almost pleased to hear of another family in our state with BHD.
I believe our “heritage” of BHD is on our Welsh side of the family. I would love to hear of your progress, keep your chin up, it’s a challenge but not a death sentence if you are vigilant with regular ct/ultrasounds.
HI Wendy
My Dads side of the family all live in WA. We traced it back to my grandfathers mother, we are of Macedonian heritage. My cousins in WA and there are a lot of them, I think so far six have been diagnosed one of my cousins has just had lesions taken off her kidney. She is the one who is seeing Jack Goldblatt.
I have the lumps on my face and on my collar bone area. I have had some laser work on my face (only three lumps) and there is no scarring, but I don’t know if I can go through the pain and the after care. What have you done?
I was advised by the Royal Melbourne Hospital not to have CT scans because of he high radiation and to only have MRI’s and ultrasounds.
On the bright side my grandfather face was covered in HUGE lumps and bumps and he lived to the ripe old age of 93.
Have a great christmas and all the best for the new year.
Hi Wendy
My cousin in WA aged 58 has just been told she has another lesions on her kidney. She had one lesion removed last year. I told her that there was someone else in WA who had BDH and she said that she would love to have a chat to you about it. Let me know if you are interested in doing this and I will forward contact details.
Hello Wendy,
Over the past 15 years I have spent thousands of dollars on the little lumps on my face. I’m amlost 48 years old now. I saw beauty therapists, laser therapists, natural therapists and I have only ever used organic products on my skin. Thought they were milia/blocked pores!
The lumps have spread from across my cheeks, to my neck and chest in the past 5 years but they are relatively minor compared to some of the pictures I’ve seen. I have some scaring at the base of my right lung and put that down to a nasty bout of bronchitis I contracted in my late twenties. Time will tell if my lungs are ok but so far, so good.
Initially, my face lumps were diagnosed by a GP as a high cholestrol issue because they were mainly near my eyes/nose. Not true.
Long story short, my GP ended up referring me to a very knowledgable and caring dermatologist Dr Linda Pepall (in Mt Lawley). She knew straight away what the lumps were and told me all about what she knew of BHD. She decided to take a biopsy there and then and knew before I knew it, the biposy tested positive for fibrofolliculomas. Dr Pepall referred me to KEMH Familial Cancer Clinic in February this year and have seen a genetic counsellor (Dr Sharron Townshend). They sent me for a blood test on the same day and sure enough – tested positive for BHD. I’ve just has a another blood test this week. The genetic clinic want me to have kidney scans as there was a small cyst found in my right kidney earlier this year when I had a pelvic scan (that scan was not related to BHD at the time). I will be having kidney scans again soon and I am keeping positive for the all clear. Early days I guess.
It’s going to be difficult to trace my genes because my mother gave me up at birth and I was raised by my great aunt and uncle and don’t have a good family history. Both my biological parents are still alive – and are living in Perth WA. I’m hoping the genteticists will get hold of them for testing because my mother has had 5 or 6 children – all different fathers so there may be many of us out there with BHD. I don’t like that thought at all and have told the geneticists all I can about my family history. I owe it to my half siblings and their children.
My reasons for commenting on this site is because I will probably need to be under the care of a kidney specialist. Do you know anyone in Perth who specialises in cases like ours/BHD?
I’m taking good care of myself, healthy diet and lifestyle, lots of filtered water to drink, no alcohol and have never smoked cigarettes in my life. I am a little nervous about the next round of scans but what will be will be I guess. Life is full of surprises both good and bad.
I wish you and all those who post and read here the very best in health and treatment. Let’s hope a cure for BHD is in sight one day soon. I will certainly be putting my hand up for any clinical trials in Perth……
All the best.
Hello Deborah,
My urologist is Paul McRae at Mercy Hospital. Although he doesn’t specialise in BHD, he has operated on me and my sister for Renal tumours. He refers me to Dr Anil Patel (radiologist) for all my renal ultrasounds, he’s based at Perth Radiology at Bentley Hospital. My GP has suggested that we make an appointment with a specialist physician (I can’t remember his name at the moment) who deals with rare and unusual syndromes/diseases. I will repost when I have his details.
Since my last posting, my daughter, my eldest sister and one niece have all been tested positive for BHD. They are all sympton free at the moment. My son, my brother. another neice and 2 nephews have been tested negative.
I will be right next to you in line if there are any clinic trials here :) Hopefully there will be a BHD conference on this side of the globe one day.