Dr Laura Denby and Anita
BHD Researcher Interview: Dr Laura Denby is a post-doctoral researcher at the University of Glasgow.
1. How did you get interested in BHD research?
I work on improving viral vector technology for kidney related applications. During my PhD I created adenoviral vectors that could target the kidney in animal models. This then lead to my employment on a Myrovlytis Trust funded project to extend this work and create next generation kidney specific viral vectors which could be used by BHD researchers.
2. What are you currently working on?
I am currently working on ways to target different parts of the kidney using a technique called phage display and ultimately achieve kidney specific gene therapy which would allow manipulation of genes only in the kidney.
3. What would help current research (equipment, technique, etc.)?
Intravital 2 photon microscopy which would allow us to study dynamic virus cellular interactions in real time in vivo.
4. Do you have a favorite research paper?
The research articles published by Pasqualini and Ruoslahti (for example Pasqualini and Ruoslahti, Nature 1996 380:364-6) which demonstrated the power of phage display to identify peptides that can target specific vascular beds and tissues in animals and humans because it was a great technological advance. Also, I am very proud to be a co-author on my research groups Cell paper (Waddington et al, Cell 2008 132:397-409) which identified the interaction of Factor X with Adenoviral serotype 5 (Ad5) hexon and subsequent uptake into the liver following intravascular administration of Ad5. This has led our group to generate adenoviral vectors that have the hexon mutated so no longer have this interaction thus making them perfect platform vectors for organ-specific gene therapy.
5. What are your short/long-term goals?
Short-term I want to test my kidney specific viral vectors in animal models and in the long-term have these vectors used to help in BHD research.
6. What is your favorite book/film/music?
Mmmm this is a hard one
Book – am I too old and daft enough to say Twilight saga
Film – anything by John Hughes or inspired by him.
Music – Love – Forever Changes and most of the Super Furry Animals albums.
7. What did you want to be when you were younger?
I wanted to be a Doctor or a Scientist since I discovered a passion for science as a little girl. As the daughter of an English teacher my Dad has never worked out why I am terrible at spelling but talented at science.
8. Where do you see yourself in 10 years?
Hopefully with my own research group building on the research foundations I have made.
9. Do you have a scientific hero, dead or alive?
Living, Robert Weinberg for his contribution to cancer research, and dead, Rosalind Franklin for her critical role in the discovery of the structure of DNA.
BHD Personal Story: Anita is from the United States.
1. When and how did you first get diagnosed?
I received a confirmed diagnosis of BHDS in September of 2007. My renal Cancer was diagnosed in 1997 when I had a CT scan performed for Vocal Cord paralysis related to a Thyroidectomy done in 1995.
2. What symptopms prompted the BHD diagnosis?
I actually realized when my cousins daughter was diagnosed in 2007 that I had experienced all the same symptoms over a period of 20 years prior. I had the pneumothorax in my right lung, test results which indicated numerous cysts in both lungs, a history of Kidney CA in my left kidney, and a face full of lesions which were getting progressively worse.
3. What impact did the diagnosis have on you?
Initially I was in a mode of disbelief, but when the biopsy of my facial lesions was confirmed as Fibrofolliculomas, and the pathology slides from my Nephrectomy confirmed a mixed chromophobe/oncocytoma type consistent with the renal cancers seen in BHD, I could no longer deny that our family was in fact positive for the BHDS diagnosis.
4. Have you explained BHD to family members?
All of my family received copies of my genetic consult from The University of Pennsylvania Health System. I also made that information available to my brother in California, to allow him the opportunity to be tested.
5. What implications do you think it has had on your family?
My two sons and my brother proceeded immediately to have gene testing done for the sake of their children. My two daughters have not yet been tested, although both who are in their late 40’s have begun to see lesions on their face similar to mine. My sons, and brother tested negative for BHDS. My cousins brother was also tested and he was negative.
6. Where did you go for more information on BHD syndrome?
I immediately found the BHDS site online and printed out numerous copies in order to provide that information to all of the Physicians I see routinely. None of them had ever heard of BHDS except for my dermatologist who had attended a seminar in Philadelphia. I was his only patient with a confirmed diagnosis.
7. Do you have advice for people who are looking for a diagnosis?
I sincerely believe BHDS is not diagnosed more frequently because the medical community is so unaware of its presence. I recently read a comment on a “Kidney Cancer” site from an individual who was making comments on his Medical History, and his similar history to mine made me think he might benefit from Genetic testing. But I didn’t want to appear as though I was urging him to request testing from his Physician that might not be relevant to his situation. I think the Dr.’s who are involved in diagnosis for Kidney Cancer, Radiologists who read CT scans and observe both lung cysts and renal tumors, and Dermatologists who observe facial lesions should be made aware of the possibility of BHDS.
8. Has it affected you as a parent? E.g. telling your children, starting a family, genetic counselling.
My children were all grown and married when I received my diagnosis, but it did give me concerns about the grandchildren already present and the great-grandchildren who were on the way. I do have grave concerns for the grandchildren who’s Mother’s have not yet been tested.
9. Do you have tips and advice for caregivers?
I am fortunate enough at my age to be 100% in charge of my medical situation. However, it’s not easy to communicate with the Dr.’s in various specialties who prescribe and handle various different Medical issues. Unless the Medical community is better educated, caregivers will be unable to make appropriate decisions for each individual.
10. What are your current symptoms?
I have more facial lesions now than I did in 2007. My most recent CT scan in 2008 indicated more cysts in the lungs than seen in previous studies. I am being closely monitored for 3 very small lesions in my remaining right kidney. The Urologist I see, doesn’t want me to have any more CT scans than what is absolutely necessary, so I have Renal Ultrasounds twice a year to monitor their size.
11. What treatment are you having, and have you had?
I of course had the entire left Kidney removed in 1997, when I could have opted to have only the tumor removed if I had known then about the BHDS. I do not have any treatment for the facial lesions, other than just using a facial scrubber on my own. My lungs seem to be stable, so I haven’t seen a Pulmonologist since my diagnosis in 2007.
12. How did you find a doctor?
The Pulmonologist who treated my cousins daughter, and made the initial diagnosis based on my medical history and her gene testing, also saw me as a patient. I have just made an appointment to see a new Dermatologist who studied at the Univ. of Pennsylvania. I chose another Urologist other than the one who did my Nephrectomy, because I was uncomfortable with many of the comments he made to me post operatively. The Urologist I see now, takes my concerns seriously, and I have full confidence in what he tells me.
13. What has been your experience of the healthcare system and healthcare professionals?
As I have stated previously, my confidence in the healthcare professionals is very poor. I worked in the healthcare system for 27 years prior to my retirement. I made copies of EVERY test, study, scan, X-Ray, blood test, consultation etc etc ever performed. Because of insurance changes, I saw at least 4 different primary care Dr.’s over a period of 20 years. Without my own records, it would have been impossible to achieve a diagnosis so quickly. The majority of patients with a potential life changing diagnosis, don’t even know their own blood type, or the results of their last Lipid panel. Patients MUST become their own advocates, or assign that task to someone they trust.
14. Has BHD had any health insurance implications for you?
I have had four different healthcare insurance plans in the past 20 years. I have never been denied coverage for testing or procedures for the issues related to the systems involved with the BHDS.
15. What are your thoughts for the future?
I would like to see the Medical community better informed about BHDS. My previous contacts with Medical Professionals made me realize that the requirements they need to fulfill related to continuing education, makes it necessary for them to follow protocols related to ongoing education. The determinations made regarding newer disease diagnosis and treatments should be a part of every specialties continuing education.
16. What advice would you give to someone who has just been diagnosed with BHD?
I would advise them to be VERY comfortable with every Dr. they see and if not, make changes until that comfort level is achieved. Request and get a copy of EVERY test, lab work, consultation that is involved in ALL the medical issues in their lives, not just the BHDS. Make copies of the BHDS information on line and give a copy to EVERY Dr. so they can understand that their particular “body part” specialty is not the only concern you have.