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.
www.bhdsyndrome.org – the primary online resource for anyone interested in BHD Syndrome.