Dr Ilene Sussman became Executive Director of the VHL Family Alliance in 2011, after leading the North American Thrombosis Forum, where she was responsible for developing new education and advocacy initiatives.
Von Hippel-Lindau (VHL) disease is a multisystemic cancer syndrome caused by mutations in the VHL gene (Maher et al., 2011). Tumours can affect the central nervous system, kidney, adrenal gland, ear and reproductive organs. Like BHD, VHL is rare, affecting 1 in 36,000 people (Maher et al., 1991), and there is currently no cure. VHL shows clinical overlap with BHD, as both syndromes can include kidney cancer.
The VHL Family Alliance was founded in 1993 by three patients and family members, to form a support network by putting those with VHL in touch with one another. As of 2012, the VHL Family Alliance is in touch with 95% of all diagnosed cases of VHL worldwide. The Alliance run a VHL group on the Inspire website for patients and family members to discuss their experiences and have recently set up similar forums for BHD and HLRCC. A letter from BHD patient, Jean Sohrahoff, urging others to join the BHD Inspire forum can be found here and on our Forum page.
In addition to its patient support and advocacy activities, the VHL Family Alliance also funds research through which it is hoped treatments that prevent or slow tumour formation will be developed, thereby reducing the need for surgical intervention. They also publish a reference handbook detailing up to date guidelines for diagnosis and treatment for VHL and organise a biennial conference bringing together researchers, clinicians and patients. Since 1998, the VHL Family Alliance have funded $1.3 million of basic research, and influenced clinical guidelines for screening, diagnosis and treatment, in which time the average life expectancy of VHL patients has increased by 16 years.
For more information about the VHL Family Alliance and its activities, please visit the VHLFA website. Also, to learn more about Ilene’s thoughts about the issues faced by those investigating VHL and other rare diseases, including BHD, please watch the video interview (with its accompanying transcript and audio-only files).
- Maher ER, Iselius L, Yates JR, Littler M, Benjamin C, Harris R, Sampson J, Williams A, Ferguson-Smith MA, & Morton N (1991). Von Hippel-Lindau disease: a genetic study. Journal of medical genetics, 28 (7), 443-7 PMID: 1895313
- Maher ER, Neumann HP, & Richard S (2011). von Hippel-Lindau disease: a clinical and scientific review. European journal of human genetics : EJHG, 19 (6), 617-23 PMID: 21386872
www.bhdsyndrome.org – the primary online resource for anyone interested in BHD Syndrome.