December 2013

Lindsay Middelton and Doris

BHD researcher interview: Lindsay Middelton is a Genetic Counsellor and Clinical Research Nurse in Dr W. Marston Linehan’s team at the Urologic Oncology Branch of the National Cancer Institute, part of the National Institutes of Health in the United States. The Urologic Oncology Branch performs clinical trials evaluating and treating patients affected with Birt-Hogg-Dubé as well as basic research. Lindsay Middelton has been counseling families with hereditary kidney cancer syndromes for many years, and has seen hundreds of individuals affected by BHD syndrome.

1. How did you get interested in BHD research?

My interest in cancer human genetics began in the late 1980s when a paper about the discovery of a gene that predispose people to a type of colon cancer; the genetic basis of cancer had just become part of clinical care of patients!   I thought the possibility very exciting that finding cancer predisposing genes might lead to a decrease in cancer-related deaths.  When I joined the Urologic Oncology Branch in 1998 as a genetic counselor, we were just beginning to evaluate people who had BHD or were at risk for BHD.  At that time BHD was considered to be an inherited condition associated with fibrofolliculomas and a possibility of colon polyps.  As we saw more people with BHD it became clear that kidney tumors were a feature of BHD as well as lung cysts with a predisposition to spontaneous pneumothorax.   Being part of a team involved in scientific discovery was exciting and I have very much enjoyed working with and learning from BHD families.

2. Do you have advice for people who think they might have BHD and are looking for a clinical diagnosis or genetic testing?

Be patient- most health care providers have never heard about BHD and there very few BHD specialists in the world.  I would suggest finding all you can about BHD – generally available from various sources on the internet; then seek diagnosis through a Cancer Genetics program.  I cannot speak for other countries, but in the United States most major academic medical centers have Cancer Genetic departments with oncologists and cancer genetic counselors.  They may never have seen anyone with BHD, but should be able to evaluate you for signs and symptoms of BHD and offer genetic testing.   Clinical geneticists may also be helpful- the field of human genetics has always been associated with rare inherited syndromes.  The field started in conditions affecting children, so often departments of Clinical Genetics are located in pediatric departments of major academic medical institutions.

3. How do you see the field  developing in 10 years.

In order for effective treatments to be developed, a scientific understanding of how fibrofolliculomas, lung cysts and kidney tumors develop has to occur.  From a kidney cancer perspective, I hope that a drug will become available within the next 10 years as an option to surgery for people who have multiple kidney tumors.  There is so much more to learn about why cysts develop in the lungs and how they cause spontaneous pneumothorax.  I believe insights are developing in the basic science laboratories, but much more research is needed.    I hope to see improved understanding of why lung cysts develop.  The same is true for fibrofolliculomas- with increased understanding through scientific research – one hopes a topical cream or oral medication can be developed that will be effective in treating these facial lesions.

4. What can people with BHD do to  help?

Because BHD is a rare condition, I think people must become self-educated about BHD; do not expect your doctors to educate you.  You will have to advocate for yourself to get the care you need throughout your lifespan.  Find copies of medical papers and give them to your doctors.  Patient advocacy groups have proven to be very effective in promoting, even funding basic science research.  This can happen when people become involved with and participate in support (advocacy) groups- such as through the BHD Foundation or through the BHD discussion group though the VHL Alliance.  People with BHD need to come together- learn from one another and over time and maturation can become a force to impact / encourage scientific research. It has happened with other rare conditions.

5.  What do you hope for families who have BHD?

I hope the fear and anxiety some people experience will subside over time. I think of BHD as a manageable condition that should not shorten a lifespan.  I also hope families can find the words to communicate easily with their children about BHD, and that open communication within families can occur without discomfort or stress.

Light-hearted questions:

6. What is your favourite book /  film/ music

Of course there are the  great classics in fiction and film that we all can easily recall.  More recently, I love re-watching “Fried  Green Tomatoes” and “The Whale Rider”.   As far as music is concerned, I am an avid, devoted fan of Pink  Martini, who describe themselves as  a “little orchestra ” – its music crosses genres  such as classical, latin, jazz and classic pop.

7. Where do you see yourself in ten  years?

That’s an easy question- retired!  I am thinking either in Maine near friends or Seattle close to family.

8. What did you want to be when you  were younger?

From mid-childhood, I wanted to work in the health care field – I was always fascinated about why our bodies did not work; why and how people get sick.  What goes wrong?   I wanted to help and be part of the hospital health care team.  A less serious interest was to become an animal trainer; such as guide dog training or training animals for the movie industry.

9. What was the best advice you’ve  been given?

To do the right thing and to do the best I can do.



BHD personal story: Doris is from the US and was diagnosed in October.

1. When and how did you first get diagnosed?

I was diagnosed in October after genetic testing. In February, my GP took a random blood test because I was sick with the flu and my red blood count was extremely high. After several other blood tests, a CT scan showed multiple tumors in both kidneys.

2. What symptoms prompted the BHD diagnosis?

Multifocal, bilateral renal cell carcinoma.  I researched the cause of multiple kidney tumors and realized that could be the cause of my father’s facial bumps.  When I suggested this to my surgeon prior to surgery, he looked at me like I was crazy.  I knew in my heart that I had BHD.

3. What impact did the diagnosis have on you?

After my second open partial nephrectomy, my surgeon suggested it could be genetic issue and thought I should approach the NIH. At that point he was thinking VHL.  The tumors on my right kidney were 2 different cancers.  Chromophobe & clear cell.  The left kidney tumors were all hybrids.

4. Have you explained BHD to family members?

I have explained everything in detail.  I was one of the lucky few that discovered kidney cancer by accident and am able to monitor future issues. I have 3 children and one sister. My children are 17, 19 & 28.  The 28 year old is convinced he has it (a few minor bumps on his face) and doesn’t want a diagnosis.  The 2 others and my sister will be tested in January.

5. What implications do you think it has had on your family?

This year has brought our family closer.  I think the “waiting” is the worse part for all of us.

6. Where did you go for more information on BHD syndrome? and I will get more information in mid January while at the NIH.

7. Do you have advice for people who are looking for a diagnosis?

I would say that if a diagnosis offers peace of mind, you should do it.  With kidney cancer, I can’t stress the importance of an early diagnosis.

8. Do you have any tips and advice for caregivers?

Be patient with your loved one.  It’s an emotional rollercoaster at times.

9. What are your current symptoms?

I have a few bumps on my face that I have had for several years.  I’m 51.  They are not as bad as my father’s and the least of my worries.  I have never had any lung issues and my kidneys are now functioning perfectly.  I had an MRI last week and will know more in a few days.

10. What treatment are you having, and have you had?

I will have quarterly MRIs and will find out more about future treatment in January at the NIH.

11. How did you find a doctor?

The first Urologist I visited reviewed the CT scan and said she couldn’t operate on me because of the number of tumors (2 in the right and 4 in the left).  She referred me to Emory University Hospital and my surgeon was the expert with these type of surgeries.  He saved 90% of my right kidney and 80% of my left.

12. What has been your experience of your healthcare system and healthcare professionals?

My experience has been very good.  I can’t say enough positive about the physicians and staff at Emory.  I have my surgeon’s cell number and am able to contact him at any time.  I decided to signed up and train for a marathon in Big Sur CA in April and am raising money for Kidney Cancer Research for my surgeon’s team.  So far I have raised almost $10,000.

13. Has BHD had any health insurance implications for you?

Not yet.  My company pays most of the premium and we just had our open enrolment.

14. What are your thoughts for the future?

I am very positive about the future and hope that with the help of the NIH, a cure will be discovered.

15. What advice would you give to someone who has just been diagnosed with BHD?

I would say to gather as much information as possible about BHD.  I am still in the discovery phase, and am searching for someone to consult with that has similar kidney issues.  It seems most of the BHD cases I have read about are related to the lungs.