Hello, My name is Cassandra. I’m 24 yrs old and live in Winnipeg, Manitoba Canada. The first time myself and my family heard about the possibility that we may have BHD was September 2008. My brother (21yr. old at the time)was rushed to the hospital in severe  pain, It was first thought it was just kidney stones, a few tests later it was confirmed he had kidney stones, and a tumor on his left kidney. 4 weeks later he had surgery to remove the tumor, all was successful and they we able to save about 50% of that kidney. It was a rare form of cancer. After discussing with his surgeon about my history with pneumothorax, (right lung 8yrs ago, and left lung 6yrs ago) he suggested we may have BDH, he sent us for genetic testing. My mother also has tumors/lesions of the hair follicles on her face. We (my four family members) went for genetic testing, but they will not confirm if we have BDH or not, the results were inconclusive. I was order to have a CT scan to see if there were cysts on my lungs, there were cysts and also an small nodule in my left lung. A few CT scans later and a needle biopsy (which resulted in my lung collapsing!) it was determined to remove it. March 8, 2010 I had surgery to remove 50% of my left upper lobe of my lung. The surgery and recovery went well, the results of the nodule/tumor was a rare form of cancer. I have since had more CT scans of my body and ultra sounds of my kidneys. All seems to be good so far. The follow up we have to continue with is regular ultra sounds of our kidneys and my brother and I go for CT scans/MRI yearly.

Does anyone have a similar history? Does anyone think it’s possible that my lung tumor is associated with BDH? I would like to determine if I have BDH 100% through genetic testing, does anyone have a suggestion on how to get defiant test results? Thank you for taking the time to read my story!  I would love to hear any comments or questions.

I have a question, are the odds for getting BHDS always 50% if a parent has it?

Of the 14 people in my family that have been tested so far, 14 out of 14 have tested positive for BHDS. This seems to defy all odds, especially given that 8 of these people are asymptomatic.

Does any one have any ideas, are we really unlucky or is something else going on?

I have posted briefly here before but I’m not sure if my post is still on the website….

Anyway, I was diagnosed with BHD last year after 2 collapses and a VATS on my right lung.  We are a military family living in Germany and the docs thought it was best to send me to Bethesda (NNMC) for my surgery and lab work (I was diagnosed with BHD here in Germany though, after surgery).  When I was flown home after surgery I developed another pneumothorax. It took about 5 months for the air to reabsorb, and then my doc wanted me to wait at least 3 months before flying again.

I ended up waiting more than a year before flying and then went to Italy (flying from Germany it is only about 1 1/2 hrs). It was a short flight, so a good “test” flight. I had an x-ray afterwards and all looked good. However, just 2 weeks ago, we flew to the states. While I was packing for the trip I had the old familiar sensation of an air bubble, and because it was a weekend, decided to go to the ER for an x-ray. I didn’t tell them to call my pulmonologist as I thought that if there was an air bubble, they would see it.

The ER doc and radiologist did NOT see my pneumothorax, so off we went to California! I felt the same all week, perhaps a little bit worse (I get sore in my back and I get a crackly feeling/sound in my throat with deep breaths). We had 3 flights to get back home to Germany and upon my return my pulmonologist (who had since seen my email about my ER visit) had me come in for a CT scan.  The CT showed about a 1/3 collapse in my right lung. He was pretty upset to say the least, because when he looked up my x-ray from my ER visit, he could see the collapse!! If he’d had a chance to see that, he would have kept me off the plane!!

The trip was great, I’m glad I made it, and at least now we know that the collapse was likely caused by exertion and not from my Italy plane trip. However the international flight definitely aggravated the condition and now I’m on orders to stay home and rest and have an adult with me at all times. I’ll have a follow up on Monday to see if the air is starting to reabsorb on it’s own. Doc doesn’t want to insert another chest tube right away as that is only a short term solution but long term could lead to a constant air leak. So we will hope that the air starts to reabsorb on it’s own (but like I said, it took about 5 months last time!)

My dad and uncle also have BHD though haven’t been tested. My uncle had one VATS on the right and has the facial tumors. My dad and I don’t have many bumps (1 or 2), but my dad has had 3 lung surgeries. He says that exertion seems to aggravate/start the air bubbles.

This is very frustrating for me. I’m 34, mom to 3 small kids and of course, I want to be in my best shape! I am not terribly overweight – maybe 15-20 lbs, but it has been very frustrating to try to lose the “baby weight” – my lung collapsed when my 3rd baby was about 8 months old and since then with dealing with surgery, recovery, and now time to let 2 collapses reabsorb on their own, I wonder if I will never truly be able to exercise and lose this weight the normal way. (my vanity is leading me to think about a mini tummy tuck but I am not sure if that is even safe with my lung condition!)

I mostly see posts about people dealing with the kidney cancer aspect of BHD. I am so grateful that hasn’t shown up in our family, but the lung blebs are not fun either. If there is anyone who has dealt with lung issues and can attest to the exertion/exercise aspect of it, please let me know!  I had helped my husband put together bunk beds for our kids, so that could have started it, and then getting luggage down from the attic to pack for our trip (it was during packing that I felt that sensation).

Thanks!

Jocelyn

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.

Now that I’ve had the diagnosis of BHD and done some research, I’m curious if anyone else has experienced the following “symptoms”:

1. I’ve always been prone to excessive sweating. Anything over about 65 degrees F (18.3 C) feels “hot” to me. I’m an active person so the warm temps of summer make me very uncomfortable. But I do great in the winter, even in temps below zero F!

2. My skin is exessively oily. I had moderate acne during my adolescent years but as an adult, I’ve noticed that my skin is very oily. I do a lot of cleansing with acne soap just to keep the oiliness in check.

3. I’m also a particularly hairy guy, with thick hair on my chest, arms and yes, back (yuck!). None of my family members seem to be cursed with the amount of hair that I’ve sprouted.

I don’t know if ethnic ancestory has anything to do with BHD, but here’s how mine breaks out: My paternal grandfather, who I’m almost certain had BHD, was from Uppsala, Sweden. My maternal grandmother was of Irish and Danish extent. My father’s family was originally from northern England.

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