Video Interview: Lindsay Middelton – National Cancer Institute, NIH, USA

This week we introduce Lindsay Middelton R.N., C.G.C, who is a genetic counsellor with the National Cancer Institute (NCI) of the National Institutes of Health, USA.

Lindsay is part of the Urologic Oncology Branch at the NCI, which treats patients affected with inherited and sporadic forms of genitourinary cancer, and performs clinical trials as well as basic research. Teams at the NCI, in collaboration with researchers worldwide, identified the genes for BHD (Nickerson et al., 2002), Von-Hippel Lindau disease (Latif et al., 1993), and hereditary papillary renal cell cancer (Schmidt et al., 1997); work at the NCI on BHD has been ongoing since the 1990s. The NCI is in fact currently sponsoring a study investigating the genetics of BHD, “Genetic Analysis of Birt Hogg-Dube Syndrome and Characterization of Predisposition to Kidney Cancer”, which is recruiting participants.

As a genetic counsellor, Lindsay meets with individuals diagnosed with a hereditary condition. Genetic counsellors are often a very significant source of resources and support to families, offering guidance on understanding genetics, advice on managing a genetic condition, and time to discuss concerns, such as informing family members about a positive diagnosis. More information on genetic counselling and links for finding a local counsellor are available here.

With over 15 years’ experience in BHD and having met hundreds of patients, Lindsay’s specialist experience and knowledge is invaluable. As a member of the NCI team dedicated to undertaking translational research in kidney cancer disorders, Lindsay has travelled the United States to undertake clinical research into BHD and is an author on a number of papers. Lindsay Middelton’s research interests also include analysing nursing developments in cancer genetics as well as inherited kidney disorders.

The BHD community has also been fortunate to benefit from Lindsay’s expertise at the BHD Symposium, where she has been graciously leading the Patient and Family sessions (see summaries from the Third BHD Symposium and the Fourth BHD Symposium).

For a closer insight into Lindsay’s work, have a look at her Video Interview. There is also an audio-only version available, as well as a written transcript. The following publications also give an overview of Lindsay Middelton’s research:

 

  • Middelton L, Dimond E, Calzone K, Davis J, & Jenkins J (2002). The role of the nurse in cancer genetics. Cancer nursing, 25 (3), 196-206 PMID: 12040228
  • Singer EA, Bratslavsky G, Middelton L, Srinivasan R, & Linehan WM (2011). Impact of genetics on the diagnosis and treatment of renal cancer. Current urology reports, 12 (1), 47-55 PMID: 21128028
  • Zbar B, Glenn G, Merino M, Middelton L, Peterson J, Toro J, Coleman J, Pinto P, Schmidt LS, Choyke P, & Linehan WM (2007). Familial renal carcinoma: clinical evaluation, clinical subtypes and risk of renal carcinoma development. The Journal of urology, 177 (2) PMID: 17222609

Patient and Family sessions at the Fourth BHD Symposium

Around 30 patients and family members participated in the Fourth BHD Symposium in Cincinnati, Ohio last month. Such a record turnout had a significant effect on the flow of the Symposium – for example, by providing researchers with many opportunities to meet and engage with families – and is evidence of an active BHD community. As readers of this blog will be aware, people affected by BHD and other rare conditions are widely spread across the globe; we hope this meeting will be an encouraging catalyst for future events as well as patient-led initiatives.

Following the welcoming reception on the 28th, the core patient and family activities took place on the 29th. After the clinical presentations, including an appraisal of screening guidelines for kidney tumours, (of which more details can be found in the previous Symposium live update post and Highlights post), a genetic counsellor from the NIH led a full afternoon of sharing experiences, reviewing research, and brainstorming new directions. We were also fortunate to welcome representatives from The LAM Foundation and the VHL Family Alliance to share strategies. LAM and VHL are conditions which have biological overlaps with BHD syndrome.

The Q&A portion of the patient sessions covered a number of concerns. For skin symptoms, the consensus is that there are a variety of treatments possible, but unfortunately these are not permanent and there are too few reports to evaluate which is the best temporary treatment. There is therefore need for studies into the best available treatment as well as investigations into experimental treatments. This year’s sessions also featured a greater emphasis on BHD lung symptoms, acting on observations from the Third BHD Symposium. Dr Frank McCormack, a pulmonologist from the University of Cincinnati responded to questions focusing on precautions, treatments and current understanding. Major points included the reiteration that BHD lung symptoms are not considered to be progressive and that air travel does not seem to pose a significant risk for pneumothorax, as investigated by Taveira-DaSilva et al., 2009. However, each person is different, so it may be helpful to speak with a doctor individually about air travel. Flu immunisations and smoking cessation were also recommended.

Additionally, following on from suggestions, BHDSyndrome.org will soon feature a private Forum for patients. There is also a private messaging system already in place, where any registered user can message someone who has posted to the Forum and opted into the system. If you have any suggestions or comments for BHDSyndrome.org, please complete the feedback form, which is always available on the For Families menu, the For Researchers menu and the Contact Us page.

All comments on the Symposium were greatly appreciated. We are excited to begin planning for the Fifth BHD Symposium and implementing ideas for improving the programme. Thank you for participating in the Fourth BHD Symposium!

 

  • Taveira-DaSilva, A., Burstein, D., Hathaway, O., Fontana, J., Gochuico, B., Avila, N., & Moss, J. (2009). Pneumothorax After Air Travel in Lymphangioleiomyomatosis, Idiopathic Pulmonary Fibrosis, and Sarcoidosis Chest, 136 (3), 665-670 DOI: 10.1378/chest.08-3034

Solidarity: Rare Disease Day 2012

Next Wednesday 29th February is a particularly important day. It not only maintains the accuracy of the calendar, but marks Rare Disease Day 2012. This year, Rare Disease Day falls on the rarest day in the calendar, like the first Rare Disease Day in 2008.

The theme for Rare Disease Day 2012 is ‘Solidarity: Rare but strong together’. Often it is not recognised that while single rare conditions may affect a relatively small number of people, as a whole there is a very large population affected by the approximately 7000 rare diseases. In the EU, up to 30 million people may be affected by a rare disease. Each rare disease faces many of the same challenges, be it greater access to diagnostics or facilitated development of therapies, which makes it effective to address the needs of the rare disease community together.

This focus on the rare disease community as a whole, on the parallel challenges and achievements of each community, will be evident in the activities that are planned for the day. EURORDIS is hosting a conference in Brussels to review European programmes for increased collaborative rare disease support. Orphanet and L’Alliance Maladies Rares are holding photo exhibitions and games in the buffet areas of national trains in France to engage travellers. London’s day, hosted by Royal Holloway University of London, welcomes families affected by rare diseases, charities, scientists, health professionals, students and anyone else interested. Paralympic gold medalist Helene Raynsford, who is diagnosed with Ehlers-Danlos syndrome, will be the featured keynote speaker. The BHD Foundation is pleased to be participating in the exhibition. A number of events also engage a younger audience; the London schedule includes talk on genetics and lab visits, while teachers in the United States have access to resources to supplement biology courses on Rare Disease Day and families in Québec can enjoy a ‘Rare Day at the Zoo’.

The National Institutes of Health (NIH) in the US will again hold a day conference to reflect on research efforts in rare diseases; Dr Francis Collins, the Director of the NIH, is scheduled to speak. A number of cities around the world will be hosting conferences on rare disease research, policy and legislation, including Ottawa, Canada, Beijing and Moscow. Over 60 countries are joining to mark Rare Disease Day; go here to see which events will be taking place in your local area.

This year, Rare Disease Day will also see launches of new initiatives. The French national Rare Diseases Foundation (Fondation Maladies Rares) will open with events at the Academy of Sciences in Paris. The Fondation Maladies Rares is a pertinent example of the ‘Solidarity’ theme; it will strive to develop resources and an infrastructure that will benefit the rare disease collective (previously discussed here). Additionally, the rare disease community might soon find a more unusual but high profile source of support: Lady Gaga will be launching her Born This Way Foundation on 29th February, focused on counteracting discrimination and inequalities among young people, including those based on medical conditions.

Visit the Rare Disease Day 2012 site for more information about the day, ideas on how to engage your community, and opportunities to share your story.

RARE 2011: Towards new achievements in rare disease support

The RARE 2011 conference was an exceptional opportunity to focus on the development of effective policies and infrastructure for rare diseases. Speakers, including representatives from Orphanet, public bodies, funding organisations, patient associations, research centres, and industry, analysed the obstacles and achievements in European management of rare diseases.

One of the greatest obstacles is lack of reliable, accessible and well-organised knowledge. Firstly, there is little known medically and scientifically about many rare diseases. For example, two common situations for a rare disease, a wide and sparsely spread population and a large range of symptoms, mean that meagre amounts of data are available on the progression of a given disease. While certainly more research is required, a practical tool emphasised throughout the meeting was the patient registry. A patient registry, open to and well-maintained by an international community of researchers, would allow greater insight into epidemiology, genotype-phenotype correlations and so on. A patient registry would also make it easier to run a good clinical trial, because, for example, researchers could show the effect of a treatment more clearly.

While the obstacles are significant, recent achievements and new opportunities promise an exciting future for tackling rare diseases. One of these is the International Rare Disease Consortium (IRDiRC), a body jointly established by the European Commission, the National Institutes of Health in the United States and the Canadian Institutes for Health Research. IRDiRC’s goals for 2020 are to produce diagnostic tests for most rare diseases, and to develop 200 new therapies for rare diseases. Also of significant note is the creation of National Foundation for Rare Diseases in France (Fondation des Maladies Rares). Part of the Foundation’s plans is the establishment of more centres of excellence, standardised protocols and a national bank for rare diseases. Orphanet is also continuing to develop reliable, well-organised knowledge and to raise the visibility of rare diseases in all medical settings by contributing to the International Classification of Diseases (ICD). The ICD, managed by the World Health Organisation, is an international system for organising/coding diseases on medical records, and is used in a wide variety of studies such as gathering disease statistics. All previous versions of the ICD do not include codes for rare diseases. Many processes in managing a rare disease are made more complex by this exclusion, from gathering epidemiological information to including a rare disease diagnosis in a patient’s medical record.

Emerging over the meeting was a sense of anticipation built on considerable accomplishment. With the creation of IRDiRC and inclusion of rare diseases in the new ICD, it seems rare diseases are gaining much more of a public health presence. As new initiatives and programmes begin to act and bear fruit in 2012, there is much hope for substantial change in the current ways of understanding, diagnosing, managing and treating rare diseases.

BHDSyndrome.org August Updates

There have been a few changes to BHDSyndrome.org in the past few weeks. Firstly, the Information Pamphlets are now available for download. Thank you very much to all who participated in the pamphlet survey. Many supportive responses were received from families, doctors, genetic counsellors and friends of people with BHD, showing the need for a helpful way of telling others about BHD.

There are six different Information Pamphlets. Diagnosis Information describes how to obtain a definitive diagnosis for BHD and why it might be important to do so. Skin Symptoms and Treatment, Lung Symptoms and Treatment, Kidney Symptoms and Kidney Treatment offer brief overviews of what these BHD symptoms are and options for treatment. The Clinical Introduction pamphlet is a one-page summary of BHD pathology and is written to give health professionals an understanding of BHD basics. We hope you will find the pamphlets useful to share information about BHD.

Acting on feedback to the pamphlet survey, more fibrofolliculoma photos are available. Several pages (Skin Symptoms, Fibrofolliculomas, Diagnosis of Skin Symptoms, Treatment for Skin Lesions) now show a variety of examples of fibrofolliculomas. The majority of these photos have kindly been provided by Dr Derek Lim and the authors of Menko et al. (2009). A sincere thank you as well to the individuals who agreed to share these photos.

Would you be interested in learning more about Dr Derek Lim and his work with BHD patients? Are you curious about the latest BHD research and would like to know what was discussed at the Third BHD Symposium? If so, please visit the Video Interviews section. Several BHD researchers generously gave of their time during the Symposium to participate in this feature and we are excited to share these new interviews. Take a look at the videos and hear from a clinical geneticist, learn why rare disease research is crucial to our understanding of health, and discover more about the roles of basic and clinical research.

Remember to check BHDSyndrome.org on Twitter, register for BHD Worldwide and contribute to the Forum!

 

  • Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjöld M, Hansen TV, Solly J, Maher ER, & European BHD Consortium (2009). Birt-Hogg-Dubé syndrome: diagnosis and management. The lancet oncology, 10 (12), 1199-206 PMID: 19959076

Stay connected

As the BHD community is spread all over the globe, strengthening connections and developing more ways of meeting others is important. At the Third BHD Symposium, people at the Patient and Families session proposed the idea of privately messaging BHDSyndrome.org Forum users. Now the private messaging system is live and running. How does it work? Anyone who would like to receive messages has to be a Forum author (written at least one post on the Forum) and also has to opt in to the system by sending an email to contact@BHDSyndrome.org. To send a message, please log in to the Forum, find the Forum author you would like to contact and click on the ‘Send a personal message to this author’ link. This is an email service, but only usernames are visible. Neither the sender nor the recipient will see each other’s email address. All messages are moderated. We hope you will find this a useful way to make contact with BHD families around the world.

Another way of connecting to the BHD community is through Twitter. BHDSyndrome.org has now joined the company of those who tweet. Our tweets will focus on BHD news, new research and events. Twitter has become an efficient and interactive source of information; the Lancet for example has recently highlighted its potential for public health communication. Click here to follow BHDSyndrome today.

Finally, it is exciting that the number of participants in the BHD Worldwide map is increasing. It would be great, however, to see many more pins on the map!

Do stay connected! Remember to email contact@BHDSyndrome.org if you would like to opt in to the Forum private messaging system. Be sure to follow us on Twitter. Consider putting yourself on BHD Worldwide. As always, please let us know if you have any comments or suggestions by emailing contact@BHDSyndrome.org.

 

  • Morris, K. (2011). Tweet, post, share—a new school of health communication. The Lancet Infectious Diseases, 11 (7), 500-501 DOI: 10.1016/S1473-3099(11)70159-1

Third BHD Symposium: overview of Patient and Family sessions

Following the first post reviewing the scientific content of the Third BHD Symposium, highlights here focus on the Patient and Family sessions.

Mornings were for joining the researchers and hearing the latest clinical investigations. Patients were pleased to have the chance to attend these talks and found them interesting: “I liked that I heard about things related to my condition that aren’t part of the published record or that my doctor wouldn’t necessarily know”.

During the afternoons, patients and families came together for small discussions. These groups were led by a genetic counsellor from the USA’s National Institutes of Health who has many years’ experience with BHD. Here attendees learned about the current understanding of BHD syndrome, including updated risks of specific symptoms and recommended care guidelines.

Discussion was lively, as patients related stories of treatments, shared how family members have reacted to a BHD diagnosis and asked questions about the latest research presented that morning. As one attendee reflected, “The patient discussion session was great…[we] know that we will keep in touch as we all learn more…since most doctors do not understand the condition or have even heard of it, we were empowered to take charge of our health and learn how to educate our doctors”.

From both scientific and family sessions, it became clear that there is less clinical discussion about the lungs. While over the past few years, more and more dermatologists and urologists have become aware of BHD syndrome and are now engaged in constructive dialogue about best care, pulmonologists were the least represented at the Symposium. Families with lung symptoms as their main concern remarked how unfamiliar their doctors were with BHD syndrome. As a result, therefore, lung care is now prominently on the agenda.

Overall, patients and family members found the Symposium to be “a very useful experience”, “encouraging”, and “very valuable”. So as not to miss the next meeting, plan ahead now: the Fourth BHD Symposium will be on the North American continent, probably during April 2012.

Finally, a few new patient resources will be available soon; do keep checking the website for updates!

Features and events: latest updates

The Third BHD Symposium concluded yesterday after two days of fascinating talks, informative posters and stimulating discussion. It was a delight to see the largest gathering yet of the BHD community in the picturesque city of Maastricht: researchers, health professionals and patients, from seasoned participants to new attendees. Highlights of both the scientific and patient sessions will be available within the next few weeks.

In the meantime, there have been several updates to BHDSyndrome.org that we would like to present. Recently, a new function has been introduced: the like button (as seen at the end of this post). It is now possible to ‘like’ all posts in the Forum and News, as well as Written Interviews and Personal Stories. Just click on the thumbs-up icon to let everyone know when there’s a great story or post! You don’t need to be logged on and the process is completely anonymous.

In addition, following on from Professor Eamonn Maher’s video interview, two new researcher interviews have been uploaded. We are pleased to introduce Dr Andy Tee of Cardiff University and Dr Richard Harbottle of Imperial College London. Watch their video interviews to hear about their ongoing research in understanding and treating BHD syndrome. Keep checking the Video Interviews page as more videos will be going up soon!

Finally, don’t forget to take a look at BHD Worldwide. See where BHD families are located and share your own location on the map. It’s up to you how much information is displayed and confidentiality is strictly maintained. As always, feedback on all aspects of the website is most welcome. Don’t hesitate to email contact@BHDSyndrome.org or post on the Forum to offer suggestions, improvements or any other comments.

Patients and Families at the Third BHD Symposium, 11th and 12th May

The Third BHD Symposium is fast approaching in little over two weeks! We have already posted introductions of keynote speakers, and discussion of the sights of Maastricht. Now has come the time to present the Patients and Families Programme.

BHD-focussed sessions will be on the 11th; those for HLRCC will take place on the 12th. The goal of these two days is to allow for sharing of advice, information, and encouragement. There will be informal discussions with medical professionals, who are experienced and highly knowledgeable in BHD syndrome, including clinicians and a genetic counsellor. Talks on new research in clinical practice will be open both for patients and researchers. In addition, patients are welcome to attend any of the other researcher sessions. During lunch and breaks there will be lots of time for getting to know each other. More details can be found here.

Registration is possible for one day or two, at 50 EUR per day. We sincerely encourage all to register. Given the rarity of BHD syndrome, occasions to meet together are few and therefore all the more valuable.  Attendees are coming from as far away as Japan and Ohio, USA. We hope to make it as flexible as possible for you to attend. If there is anything with which we can help, please do not hesitate to email info@BHDSyndrome.org.

Following the response to the patient programme at the Second BHD Symposium in Washington D.C., we anticipate the meeting will be enjoyable and useful, whether sharing dinner with BHD patients from other cities and other countries, asking a pulmonologist questions about pneumothorax and pleurodesis, or finding out how much we already know about BHD and learning where BHD research is going.

Why hesitate? Register to spend time in Maastricht with everyone who is dedicated to overcoming BHD!

6th annual World Kidney Day, 10th March 2011

Thursday the 10th of March will be World Kidney Day. This celebration, taking place on the second Thursday of every March since 2006, was established by two organizations, the International Federation of Kidney Foundations and the International Society of Nephrology, to raise awareness of kidney diseases, especially chronic kidney disease (CKD). As kidney diseases may not lead to noticeable symptoms until late, it is important to know the risk factors and be tested regularly.

The theme for this year, ‘Protect Your Kidneys and Save Your Heart’, focuses on the link between CKD and cardiovascular health. While CKD is not associated with BHD syndrome, events will not be limited to CKD; people in over 100 countries will be reflecting on kidney diseases and kidney health and so World Kidney Day is a day to celebrate.

In Switzerland, the kidneys will have a high profile: there will be an art installation involving 30000 litres of water right in front of the Parliament in Bern. Events around the world also include scientific conferences, awareness walks, salt-free cooking classes and free/low-cost kidney screening (fluid tests to estimate glomerular filtration rate as a measure of kidney function). Click here to see the list of events. Visit the map on the World Kidney Day site to see if there will be free/low-cost screening centres in your area. If you would like to participate online, World Kidney day invites you to post photos and videos of how you spent the day.

We hope you enjoy the celebration next week and are encouraged to take good care of your kidneys!