Watch the First ‘Meet the Experts’ Event Now!

This week we held our first ‘Meet the Experts’ virtual event with genetic counsellor Lindsay Middelton. Almost 50 people joined from all over the world to ask questions and hear about genetic counselling and Birt-Hogg-Dubé syndrome.  At the next event we will be talking about pneumothoraces and the date will be announced very soon.

Click here to watch the first ‘Meet the Experts’ event.   

Meet a BHD Expert

We are excited to announce that we are hosting our first Meet the Experts virtual event on Thursday 22nd April at 7:30 pm BST (British Summer Time). Lindsay Middelton has over 25 years of experience in counselling and genetic assessment of patients with familial renal cancers including Birt–Hogg–Dubé syndrome. She will be sharing her experiences and answering your questions about BHD and genetic counselling.

Sign up now for the event!

If you are unable to attend the event, we will be recording it and posting it on our webpage.

March Newsletter

Last week we sent out our March 2021 BHD newsletter and it’s not too late to read it. We discuss the highlights from this month, upcoming events, and the latest science news with a focus on Folliculin, the gene which is mutated in Birt-Hogg-Dubé syndrome.

Read it now

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

Kidney Cancer Symposium

Registration for the virtual 2021 European International Kidney Cancer Symposium is now open. On the 23rd-24th April 2021 kidney cancer experts, including clinicians and researchers, will come together to share their ideas and discuss current and novel treatments for kidney cancer.

Patient Advocate rates is €50.

Find out more about the symposium, see the agenda and register for the event here

Symptoma – Digital Symptom Checker

Symptoma is an online symptom checker which helps to find possible medical causes for symptoms. The Symptoma Team are determined to use this platform to reduce misdiagnosis of rare diseases, such as Birt–Hogg–Dubé syndrome, so that people can access the correct care. To measure and improve the accuracy of Symptoma they have a created a questionnaire for people with rare conditions to complete. The data will be anonymous and the accuracy results will be scientifically published.

Symptomia has the potential to help aid the diagnosis of Birt–Hogg–Dubé syndrome and other rare diseases. To get involved and complete the questionnaire click here.

Click here to learn more about Symptoma.

One Cancer Voice

The BHD Foundation has joined with 46 UK charities, as One Cancer Voice, calling for the government to invest in cancer services. The COVID-19 pandemic has resulted in a backlog of cancer tests and treatment, and not only do we want to restore cancer services but improve them.

We are urging Governments and NHS leaders across the UK to

  1. Direct resources to clear the cancer backlog as quickly as possible
  2. Continue to encourage people with signs and symptoms of cancer to seek help from their GP
  3. Expand the number of staff in key cancer professions
  4. Drive earlier and faster diagnosis
  5. Ensure personalised care and support for all
  6. Strengthen the UK’s medical R&D base to accelerate improvements in cancer outcomes
  7. Resource high quality end of life care
  8. Be bolder in measures to prevent cancer
  9. Reduce inequalities in cancer outcomes

Click here to read the full statement and charities involved.

Today we are sharing this message on twitter with the #OneCancerVoice. Together our voices will be heard.

Wherever in the world you are we would be interested in finding out about how the COVID-19 pandemic has affected your cancer care. Please email us at contact@bhdsyndrome.org if you are keen to share your experiences.

World Kidney Day 2021

Today is World Kidney Day and together we are raising awareness of kidney cancer in Birt–Hogg–Dubé syndrome (BHD). Approximately 25% of BHD patients will develop kidney cancer in their lifetime, most commonly in their 50s (1). Therefore, from the age of 20 active surveillance is recommended to monitor all BHD patients for kidney cancer. There is no current gold standard for monitoring kidney cancer in BHD, but clinicians advise imaging in the form of CT or MRI scans every 1-5 years depending on the patient (2).  

Kidney cancer in BHD is often slow growing and only removed, with nephron-sparing surgery, once its diameter is greater then 3cm (1). With monitoring and treatment the outcome for patients is usually good. Therefore, it is essential that we raise awareness of BHD syndrome so that the associated kidney cancer is correctly diagnosed, monitored and treated.  

To get involved with World Kidney Day on social media, use #KidneysMatter and #WorldKidneyDay and of course #BHDsyndrome

Find out more about World Kidney Day 2021!

References

1. Maher E, Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management.   World J Urol [internet] 2018 [cited 2021 Mar 9]; 36(12): 1891–1898. Available at https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6280834/

2. Crane SJ, Rutt V. Oakley AM. Birt Hogg Dube Syndrome. StatPearls [internet] 2021 [cited 2021 Mar 9]. Available at https://www.ncbi.nlm.nih.gov/books/NBK448061/

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