Some families with BHD only seem to have the skin lesions (fibrofolliculomas). It can look like a rash.

People in my family who have been diagnosed with BHD so far include my father John, my brother Alfie, & my sister Roma. My brother Johnny has the rash exactly the same as the rest but refuses to take it seriously, so won’t be diagnosed. All except Johnny see Dr. J Alderdice, a dermatologist. It was he as well as further tests who diagnosed it first in my brother Alfie. I’ll write a story about each, how they found out, etc.

My father Johnny…

has had the rash for quite a few years. It was thought at the time it was a reaction between his medication and the sun’s rays, so nothing was ever done about it until now. In hindsight, all the clues were pointing to BHD. My father has had bowel cancer and also had a pneumothorax during surgery for a heart bypass; this could also be explained by a bit of his rib cracking and puncturing his lung during the surgery.

My brother Alfie:

The vain one wouldn’t stop from the day he started to get the rash a few years ago, until now, really, to get rid of it. He has had 2 pneumothoraxes. His rash on his face is quite bad; it’s now on his neck, traveling down to his trunk. He was offered laser treatment, but the treatment was a long way away, with 2 train rides and a taxi and bus ride – only to be told that if he got the sun on his face after laser treatment it would look worse. So he kicked that idea out the window.

My sister Roma:

It seems to have hit her worse. She had the rash and Alfie told her what it was. She went straight to her GP was then referred to dermatologist and was diagnosed with BHD. Like the others , she has had all the tests she could have on her bowels, lungs, etc. She has 4 kids and feels bad for them as you know they could all have the gene, too. She has had chronic asthma since she was little, so with lung problems already, it’s hard for her. She has had several courses of steroids recently.

Then there’s me:

I was advised to go see my GP about screening – easier said than done! I was first met with the idea that I could have my mum’s genes, so would be ok – so no referral to anyone. Then I went back and said I need to be put forward for screening. I was referred to Professor Maher at the Birmingham Women’s Hospital Genetic Counseling service. I’m just waiting now for an appointment. It’s the not knowing for me that makes it hard. I have got a few small white lumps under the skin on my nose that have been there for a few months now. They neither grew much or disappeared, so I don’t know. Having said that, my siblings are 10 years or more older than me, so they’ve all started into their 4th decade. I’ve just started my 3rd. I keep looking at my kids – being so positive – but then I think of the possible problems I could have placed on them. My idea is to take it one step at a time. I have a very supportive husband who is behind me no matter what happens, and that way I wont be facing the unknown alone.