Rare Disease Day is an event that takes place every year on February 28th, or in a leap year on February 29th (the rarest day of the year). It marks a global effort working towards equal access to healthcare, diagnosis and therapies for people living with a rare disease. The theme for this year is “Share your Colours”. We are encouraging everyone to light up their houses to raise awareness of rare conditions including Birt-Hogg-Dubé Syndrome (BHD). Information on how to do this can be found below.
There are around 300 million people living with a rare disease worldwide, and over 6000 different rare diseases. Although the stories of those living with a rare disease are unique, they share many challenges. As there are so many different rare diseases, there is often a lack of knowledge and quality information. This means healthcare professionals may not have heard of the condition resulting in difficulties diagnosing, managing and supporting those with rare disorders. There is an urgent need for this to change.
The BHD Foundation works to raise awareness of the rare genetic condition BHD. BHD has 3 main symptoms: skin bumps (called fibrofolliculomas), lung cysts and collapsed lungs (pneumothorax) and kidney cancer. Each person with BHD may have different symptoms and there is currently no way of knowing which symptoms a person will get. Roughly 9 in 10 people will get skin bumps, 1 in 4 people will experience a collapsed lung and 1 in 3 people will get kidney cancer.
Early diagnosis of BHD is essential so that the condition can be managed appropriately. This includes regular monitoring of the kidneys to minimise the risk of kidney cancer. The BHD Foundation is excited to be launching a new leaflet aimed at health professionals next week. The leaflet is designed to help doctors recognise the symptoms of BHD and whom to refer patients to if they suspect it. This leaflet will be distributed at skin, lung, kidney and imaging conferences. We hope this resource will raise the profile of BHD among the doctors who are most likely to see BHD symptoms and will lead to earlier diagnosis.
Rare Disease Day Events
We are thrilled to be taking part in Rare Disease Day this year, and invite the BHD community to get involved in the following:
- Share our social media posts to raise awareness of BHD.
- Light up your house with the rare disease day colours using your laptop. Information on how to do this is available here. Don’t forget to share it on social media and tag us @BHD_Foundation on Twitter or @birthoggdube on Facebook. We will be lighting up our homes too!
- Explore the Rare Disease resources which includes a school and equity toolkit.
- Find events near you with the Rare Disease Day event finder.
We will also be attending Rare Disease Day at the NIH. This is a free virtual event which aims to raise awareness and discuss research into rare diseases. Keep an eye out for our report!
Finally, to raise awareness of BHD and show anything is possible we created a short film with wife, mother, retired engineer, and biologist Lea Nadler about her own BHD journey. She discusses the challenges of getting diagnosed, lung surgery and her experience taking part in an Ironman.
We are delighted to be publishing this with digital health and patient advocate group Congenica. You can watch Lea’s inspirational story here.
We hope you join with us and celebrate Rare Disease Day this Monday, February 28th. The BHD Foundation continues to provide support and advice for the BHD community. If you have a question about BHD or would like help finding a doctor in your area, please get in touch by email.