BHD Researcher Interview: Dr Vera Krymskaya is Associate Professor of Medicine at the University of Pennsylvania Medical School.
1. How did you get interested in BHD research?
We made major discovery of TSC2 function in pulmonary LAM, which like BHD manifests by lung cysts. Our study in LAM paved the way for rapamycin clinical trials worldwide. It was natural to get interested in BHD syndrome also manifested by lung cysts.
2. What are you currently working on?
We are working on identifying cellular and molecular function of folliculin as a tumor suppressor
3. What would help current research (equipment, technique etc.)?
To have an animal model of conditional inducible deletion of BHD in lungs.
4. What recent developments in the field have interested you most?
It is interesting that Folliculin is involved in regulation of cellular metabolism.
5. What are your short/long term goals?
To identify the cellular function of folliculin and to identify a molecular target(s) to treat BHD Syndrome.
6. How do you see the field developing in the next ten years?
Hopefully biomarkers of BHD will be discovered and the first treatment will be in clinical trials.
7. What’s your favourite book/film/music?
Book: Alice in Wonderland.
Film: Lord of the Ring
Music: Beethoven, Symphony #5.
8. What did you want to be when you were younger?
I wanted to have profession that brings every day something new.
9. Where do you see yourself in 10 years?
Still to be in academia, maybe at new location.
10. What’s the best advice you’ve been given?
My grandma advised me to study because, as she phrased it, knowledge is not a luggage which I have to carry on my back
11. Do you have a scientific hero, dead or alive?
I admire Elisabeth I, although she is not scientist though. My hero would be Marie Curie.
BHD Personal Story – Desteny, USA.
1. When did you first get diagnosed?
June 11, 2010. My 32nd birthday.
2. What symptoms prompted the BHD diagnosis?
Fibrofoliculomas on my chest and nose, spontaneous pneumothorax (collapsed lung), lung blebs or cysts.
3. What impact did the diagnosis have on you?
Because of my lung cysts, the other disease that was being looked at was LAM. LAM is an awful disease that eventually destroys the lungs and requires a lung transplant to survive. BHD was definitely the lesser of the evils so I was very relieved to get the diagnosis.
4. Have you explained BHD to family members?
Yes, I have a couple of aunts that I told. They also have symptoms and will be getting with their doctors to discuss.
5. What implications do you think it has it had on your family?
I have 3 daughters and I am worried that I’ve passed it on to them. However, I really believe that it could be so much worse. We’re informed now and that is empowering. We know what to look out for and if there ever are kidney tumors, they will be caught early and handled.
6. Where did you go for more information on BHD Syndrome?
The internet. I first found birthoggdube.org in 2007. Then, when I started looking into it again I found bhdsyndrome.org. I’ve also read the NIH website and WIKI pages. Anything I can get my eyes on, I read.
7. Do you have advice for people who are looking for a diagnosis?
I know that some people would choose not to know. However, I needed to know, for myself as well as my children. All people are different and you should always do what you feel is best for your situation.
8. Has it affected you as a parent? E.g. telling your children, starting a family, genetic counselling.
I had already planned on not having anymore children. I will tell them when they get to be older so that they can make an informed decision about whether or not they want to have children. At this time, I haven’t mentioned it to them though.
9. What are your current symptoms?
Lung cysts that cause quick sharp pains occasionally. Fibrofolliculomas on my chest. Shortness of breath occasionally.
10. What treatment are you having, and have you had?
Previously, I have had chest CTs, lung function test, kidney ultrasound, and skin biopsies. None currently. I believe that I will be sent for an MRI of my kidneys as well as a colonoscopy once I see my doctor.
11. How did you find a doctor?
The leading physician for LAM in the US is about an hour from where I live. I found his information online and made an appointment. It took a couple months to get in to see him, so, in the meantime, we communicated through email and phone conversations and he ordered the tests that I needed. Since I don’t have LAM, I’ll be seeing my regular family physician who also happens to be an internal medicine specialist.
12. Do you have advice for people living with the BHD?
I think that I view this in a completely different light than most who are newly diagnosed. I am so relieved to not have LAM, which could’ve taken me away from my children so quickly and affected my life negatively in many ways. I’m also thankful to have a diagnosis and know what issues to look out for in the future. It’s not the end of the world.
13. What has been your experience of the healthcare system and healthcare professionals?
I now realize that doctors don’t know everything. The doctors seem to be reading the same things on the internet that I do. They don’t have any experience with BHD and I could probably tell them more than they could tell me.
14. Has BHD had any health insurance implications for you?
Not yet because I’m so newly diagnosed. I really hope that it never will.
15. What are your thoughts for the future?
I’m excited about the future. I do wonder if my lungs will continue to deteriorate or if they will stay the way that they are currently. I know that within 4 years there was an increase in the number and size of my cysts. I wish that there was more case by case information out there. Does BHD ever destroy lungs to the point of impairment? Transplant? If anyone would like to share their information with me, I would love to hear it.
16. What advice would you give to someone who has just been diagnosed with BHD?
Keep things in perspective and don’t take it too hard. There are many worse illnesses to have.
1. When did you first get diagnosed? June 11, 2010. My 32nd birthday.
2. What symptoms prompted the BHD diagnosis? Fibrofoliculomas on my chest and nose, spontaneous pneumothorax (collapsed lung), lung blebs or cysts.
3. What impact did the diagnosis have on you? Because of my lung cysts, the other disease that was being looked at was LAM. LAM is an awful disease that eventually destroys the lungs and requires a lung transplant to survive. BHD was definitely the lesser of the evils so I was very relieved to get the diagnosis.
4. Have you explained BHD to family members? Yes, I have a couple of aunts that I told. They also have symptoms and will be getting with their doctors to discuss.
5. What implications do you think it has it had on your family? I have 3 daughters and I am worried that I’ve passed it on to them. However, I really believe that it could be so much worse. We’re informed now and that is empowering. We know what to look out for and if there ever are kidney tumors, they will be caught early and handled.
6. Where did you go for more information on BHD Syndrome? The internet. I first found birthoggdube.org in 2007. Then, when I started looking into it again I found bhdsyndrome.org. I’ve also read the NIH website and WIKI pages. Anything I can get my eyes on, I read.
7. Do you have advice for people who are looking for a diagnosis? I know that some people would choose not to know. However, I needed to know, for myself as well as my children. All people are different and you should always do what you feel is best for your situation.
8. Has it affected you as a parent? E.g. telling your children, starting a family, genetic counselling. I had already planned on not having anymore children. I will tell them when they get to be older so that they can make an informed decision about whether or not they want to have children. At this time, I haven’t mentioned it to them though.
9. Do you have tips and advice for caregivers? Can’t think of any.
10. What are your current symptoms? Lung cysts that cause quick sharp pains occasionally. Fibrofolliculomas on my chest. Shortness of breath occasionally.
11. What treatment are you having, and have you had? Previously, I have had chest CTs, lung function test, kidney ultrasound, and skin biopsies. None currently. I believe that I will be sent for an MRI of my kidneys as well as a colonoscopy once I see my doctor.
12. How did you find a doctor? The leading physician for LAM in the US is about an hour from where I live. I found his information online and made an appointment. It took a couple months to get in to see him, so, in the meantime, we communicated through email and phone conversations and he ordered the tests that I needed. Since I don’t have LAM, I’ll be seeing my regular family physician who also happens to be an internal medicine specialist.
13. Do you have advice for people living with the BHD? I think that I view this in a completely different light than most who are newly diagnosed. I am so relieved to not have LAM, which could’ve taken me away from my children so quickly and affected my life negatively in many ways. I’m also thankful to have a diagnosis and know what issues to look out for in the future. It’s not the end of the world.
14. What has been your experience of the healthcare system and healthcare professionals? I now realize that doctors don’t know everything. The doctors seem to be reading the same things on the internet that I do. They don’t have any experience with BHD and I could probably tell them more than they could tell me.
15. Has BHD had any health insurance implications for you? Not yet because I’m so newly diagnosed. I really hope that it never will.
16. What are your thoughts for the future? I’m excited about the future. I do wonder if my lungs will continue to deteriorate or if they will stay the way that they are currently. I know that within 4 years there was an increase in the number and size of my cysts. I wish that there was more case by case information out there. Does BHD ever destroy lungs to the point of impairment? Transplant? If anyone would like to share their information with me, I would love to hear it.
17. What advice would you give to someone who has just been diagnosed with BHD? Keep things in perspective and don’t take it too hard. There are many worse illnesses to have.
To: Desteny, USA
It has been genetically confirmed that I have the BHDS, but no one seemed to know about it back in the early Nineties. I also had multiple SPN from Blebs, and to answer your question about the possibility of further damage to your lung(s), in my case the cysts kept opening until my (Right) lung just would not stay up any more. I had a thoracotomy at that point, and I recovered very well. I have an intermittent sharp pain fairly consistently at the place you might think was your heart, if it had not been proven otherwise, which I suspect is a very small bleb on the left lung which opens and closes, causing a temporary Pneumothorax. Otherwise, my left lung, and the little bit of my right one that is still working have served me well. I even snorkel quite a bit, and do some sport diving.
Keep an eye on your Kidneys. At age 50 something, tumors started to grow on both kidneys, while everything still functioned very well until one became so large that it put pressure on a nerve and I thought that I had somehow cracked my hip. An MRI found the masses. They were said to be Oncocytoma’s, which are normally benign but when sliced and diced, turned out to be very much full of a rare type of cancer cells. That was when the Cleveland Clinic diagnosed me with BHDS. that was confirmed with genetic testing later on. I have one half of one kidney left now. I am 61 years old, and I still Scuba dive and snorkel quite without bother. No dialysis, just diet so far, and my numbers are staying fairly good. Creat. of 1.7 + or – . If a geezer like me can deal with this, anyone can.
Don’t worry about loosing your lungs. what could you do about it? Just enjoy what you have and, as you said, be happy you do not have LAM !
Good luck to all.
I am responding to your comments wondering about your lungs deteriorating with time. Numerous members of our family have BHD with numerous episodes of pneumothorax with little loss of lung function over the years. My Mother was 93 years old when she died. If you live in the United States you should consider seeing if you are able to be in the BHD study at National Cancer Institute in Bethesda Maryland. If you qualify for the study, you will get a wealth of information and diagnostic studies including genetic tests at no cost to you. They can also counsel you with decisions on the best time to visit with your children. In summation we have found the largest problem to be dealt with is no SCUBA DIVING and keep a close eye out for kidney tumors. Do not let anyone remove a kidney if you have kidney tumors because the tumors can be removed and retain the kidney without increasing the risk of cancer spreading to other organs. In short with knowledge and educating doctors you and your children should live long and full lives. Also much research is being done with some promising results to be in patient trials within the next few years. Again I am not aware of anyone having their lungs destroyed by BHD. There is a procedure called pleurodesis used to treat multiple episodes of spontaneous pneumothorax which my Mother, sister and I have had with no adverse effects and it has prevented future episodes in the lung that was treated.
I would like to commend you on your positive attitude. There are definitely many worse things to have wrong with you. With monitoring and treatment, your life should not be impacted that much. Also you probably have other family members with BHD. Your father or your mother definitely have it and may not have any manifestations at this time. Also there are genetic tests available to find out who is affected.
Let me know if I can help.
Thank you both for your comments. I really do appreciate them so much. The doctors around me don’t seem to know much about the condition so I’m always thrilled to get as much information as possible. I do know with almost certainty that it came from my paternal grandmother’s side of the family. That’s as far back as I’ve traced it. I would be interested in being a part of the studies at the NCI but I’m not sure how to become involved. Any further information into that would be appreciated.
Thanks again!
I am 41 years old and I am Italian, from eastern coast of Sicily. My husband, his brother and his mother have BHD and my thirteen daughter too.
I kindly ask someone if could suggest a place in Italy or in Europe (maybe London?) where my husband and my daughter can be monitorated. At the moment in Italy, Cuneo genetic test is available but any suggestions about follow up or medical follow up. Thank you for your reply. Ciao Giovanna