Sophie, who was recently diagnosed with BHD and lives in France, is looking to meet other families affected by BHD.

If you would like to get in touch with Sophie, or you have suggestions for contacts, please email contact@bhdsyndrome.org or respond to this post.

Thanks very much.

Asked by Terri Mahon Klingler on the BHD Syndrome Facebook page:

Is anyone familiar with or had pleuradesis lung surgery with talc to repair blebs and to prevent further lung collapses? What is your experience with this procedure?

‘Insurancewith…’ is an insurance company focuses on providing insurance for those who have had cancer and has previously been mentioned in ‘The Telegraph’ online article ‘Too sick to insure?‘.

www.bhdsyndrome.org is not responsible for the content of external websites.

In a recent article from the Naperville Sun entitled ‘When Illness Strikes’, Susan Carlman writes about the implications a genetic syndrome can have on your health insurance, within the context of health care reform in the United States. In the article, Scott McKibbin talks about his experience with BHD Syndrome.

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.

My name is Karin Guthrie. I am a BHD cancer patient and a 40-year-old mother of two little boys. My Birt-Hogg-Dubé inheritance came from my father. He was in the original BHD study through the National Cancer Institute at the National Institutes of Health in Bethesda, Maryland, along with his sister and two brothers. Dad was referred to the study while visiting a dermatologist who noticed his fibrofollicullomas, the tell-tale spots of BHD, on his face. All 4 tested positive for the genetic disorder, and one of my uncles had previously had a malignant tumor removed from his kidney.

My cousins and siblings were advised at the time to get tested, but I ignored the warning. In my early 30’s I noticed a couple of the spots on my face, just like Dad. I figured I probably had BHD, but didn’t concern myself with testing as I was afraid there would be future insurance problems if it had been confirmed. In September, 2007, I went in for an abdominal ultrasound from some pain I’d had for about 48 hours, which turned into two CT scans and phone call that I had a mass on each kidney. I just knew in my heart what I had and that BHD was involved. Later it was confirmed that I had bilateral clear cell renal cell carcinoma, grade 4. Of the clear cell varieties, that is the most aggressive. Surprisingly, the pain I had turned out to be my irritable bowel syndrome, so my finding was incidental.

I was immediately accepted into the BHD study at NCI in Bethesda because of my diagnosis and family history. In November I had a left-side partial nephrectomy and have healed well. I never had any cancer symptoms, as I’ve heard is the case with most kidney cancer patients. Of course I have run through a hundred thoughts and emotions, as well as dozens more you wouldn’t know about unless you actually get cancer. It is especially tough if your kids are so small.

Fortunately, I have great medical care, get frequent scans and tests, and have the support I need through God, my family and amazing friends. Cancer is definitely not the end, and I look forward to every day with the people who mean the most to me.

The diagnosis of a genetic disease such as Birt-Hogg-Dubé Syndrome can be a difficult time. From the initial doctors visit, to confirmed diagnosis and beyond. Depending on where you live the level of health care from various members of the medical community may differ considerably.

The ‘Families’ section of this website contains helpful information on diagnosis and treatment, the gene test and genetic counselling. However, because of the differences in healthcare it might be useful to post your experiences of this time. Others may be able to offer you advice, or your story may prove useful for the newly diagnosed individuals.

There is a lot of relevant information surrounding the issues of health insurance (both personal and in the workplace) and the subject of genetic discrimination in the ‘Families’ section of our website, which we hope our members find useful.

We anticipate that this will mostly apply to individuals in the USA but would like to know if you’ve found this useful? Is the breadth and depth of the subject information adequate to your needs? Is there anything you feel we could improve on in this section? We’d really appreciate your feedback and even any experiences you’ve had in this area that may prove useful to someone else in the same situation….

Telling Stories is a UK based project centered on providing NHS (National Health Service, UK) health care professionals a broader education in genetics since it can be difficult for them to make the link between what they are taught and how this relates to the people they may be looking after. We know that hearing real stories about people’s experiences can make a difference in helping them to understand genetics. This project gathers real life stories from the public and professionals to show the impact genetic conditions have on real life. The stories are set in an education framework on a dedicated website. Many health professionals from across the world are visiting the site and find it very helpful as an education resource. We believe the site is helping health care professionals to gain a better understanding of genetics in practice and more stories are needed in order to further enhance the site.

The project currently has no stories from people with Birt Hogg Dube syndrome! If you are interested in sharing yours, and would like more information on particpating please visit here or email: Dr Rhian Morgan