Newsletter and Focus Group Announcement

Newsletter

The BHD February 2021 newsletter is now available. In this issue you will find out the latest BHD news, vote on a BHD expert you would like to meet and get the BHD Facebook frame.

Read the newsletter now!

If you would like to receive future newsletters please email contact@bhdsyndrome.org with the subject line “Subscribe to Newsletter”.

Focus Group

We are also looking to establish a small focus group of patients to bounce ideas around moving forward. Ideally we would have a geographic spread of people. We promise this isn’t too involved – a few emails and perhaps a zoom/teams call every now and then.

If you are interested please send an email to contact@bhdsyndrome.org with the subject line “Focus group”.

We Are Back!

We are so happy to be restarting our efforts at the BHD Foundation, and are here to fund research, support patients and raise awareness of BHD.  We have several exciting plans for 2021 including a virtual BHD symposium and a regular newsletter providing information on the latest BHD research and interviews from patients, researchers and doctors.

We want to provide a platform for patients, families and friends, where your voices can be heard.  

If you would like to receive our newsletters by email or would like to take part in the interview feature, please email contact@bhdsyndrome.org.

Rare Disease Study Day

Rare Disease Study Day

Sheffield Institute for Translational Neuroscience.

7th September 2017.

The Sheffield Institute for Translational Neuroscience will be hosting a day of informative talks about Rare diseases and will include a presentation by Dr Derek Lim, consultant in clinical genetics and BHD expert at Birmingham Women’s Hospital.

Clinicians and rare disease families welcome!

Travel and accommodation can be paid for thanks to the support from the Galton Institute and the Genetics Society.

To attend email: a.mcneill@sheffield.ac.uk

Pneumothorax BHD Awareness campaign continues

All ready to raise awareness this time at the BTS Summer meeting 2017 in Birmingham. Pneumothorax BHD Awareness campaign is a campaign to raise awareness among pulmonologists, radiologists, thoracic surgeons, respiratory nurses, technicians and medical students of the fact that pneumothorax can be a symptom of BHD syndrome, and that BHD should be considered as a diagnosis for patients presenting with pneumothorax.

Spread the word and follow us on social media @BHDSyndrome and the #BTSsummer2017.

Pneumothorax BHD Awareness campaign

All set up to raise awareness at the in Basel. Pneumothorax BHD Awareness campaign is a campaign to raise awareness among pulmonologists, radiologists, thoracic surgeons, respiratory nurses, technicians and medical students of the fact that pneumothorax can be a symptom of BHD syndrome, and that BHD should be considered as a diagnosis for patients presenting with pneumothorax.

Spread the word and follow us on social media @BHDSyndrome!

Charity Officer vacancy

The Myrovlytis Trust currently has a full- or part-time position available for a Charity Officer. The successful candidate will gain experience working in the medical research and communication sector, as well as contributing your ideas at the core of an international research-funding organisation. For the right person, there may be opportunity for the position to develop.

Application deadline: 9am Friday 2nd June, 2017

For more information and application guidelines, please download the Charity Officer vacancy description

New BHD case study – chronic peritoneal inflammation masquerading as metastatic RCC

Kam et al., 2017 report the case of a  50-year-old male presenting with bilateral renal tumours, suspicious for renal cell carcinoma (RCC), and peritoneal thickening and nodules on a CT scan. His medical history included psoriasis and appendicectomy. Physical examination revealed nodules on his face.

CT-guided biopsy of his renal lesions was consistent with chromophobe RCC for which he underwent surgery. Histopathology revealed multifocal hybrid oncocytoma and chromophobe RCC. The tumours were consistent with BHD and genetic testing identified a FLCN gene mutation to confirm the BHD diagnosis.

The patient also presented chronic peritoneal inflammation which could point to metastatic RCC. His CT scan showed the presence of mild peritoneal thickening and a bone scan and CT showed no evidence of metastatic disease.

This is the first reported case of chronic peritoneal inflammation masquerading as metastatic RCC in BHD. The case demonstrates the importance of biopsy and further tests when the presence of peritoneal metastatic disease is unclear.

The cause of the chronic peritoneal inflammation is still unclear and may be related to the molecular genetics of BHD with FLCN possibly interacting with inflammatory signalling.

BHD at Rare Diseases International Policy Event

The Myrovlytis Trust/BHD Foundation attended the Rare Diseases International Policy Event “The Right to Health: The Rare Disease Perspective” at the beginning of February in Geneva.

You can check the livestream recordings of the 3 panels, the presentations, the photos and all other relevant information about the meeting here.