Rare Disease Day 2021
Launched in 2008 by EURORDIS, Rare Disease Day takes place in February each year to raise awareness about rare diseases and their impact on patients’ lives. On Rare Disease Day we campaign for action for people living with a rare disease to have equal opportunities to realise their potential for participation in family, work and social life.
At FH Europe, Rare Disease Day is an important date in our calendar, providing an opportunity to raise awareness for HoFH (Homozygous Familial Hypercholesterolemia) and celebrate the people who are dedicated advocates for the disease.
In 2021, Rare Disease Day is especially remarkable for FH Europe, as EURORDIS will virtually host the annual Black Pearl Awards, recognising and celebrating the exceptional work of people making a difference for the rare disease community. This year, we are delighted that Athanasios (Thanos) Pallidis, a dedicated HoFH advocate, has been nominated for the EURORDIS Young Advocate Award for his work in raising awareness of the rare condition – while being a patient of HoFH himself.
Thanos’s passion for FH patient care has contributed to improved FH global policy, advocacy for patients and increase in awareness about FH among the European medical community. Help us celebrate Thanos’s inspirational work by voting for him here
What is HoFH?
Homozygous Familial Hypercholesterolemia (HoFH) is a rare disease, affecting 1 person in 300 000. It only happens if a child inherits two copies of exactly the same gene alteration, one from each parent. If undiagnosed and untreated, HoFH can cause serious heart disease in childhood. Until recently, there were few treatment options for people who have HoFH. However, significant research in this area has led to exciting new developments.
Learn more about HoFH, find the most important facts and support information here: Homozygous Familial Hypercholesterolemia
Visit our Glossary of Terms to better understand some of the specific terminology.
Many Faces, One Heart
“Many Faces, One Heart” is a special awareness campaign created to put a real face behind patients with HoFH, to demonstrate that patients with HoFH are real people with passions, dreams, also struggles. It is also to inspire and show that HoFH patients are not defined by their rare and severe condition. On the contrary!
“My rare disease is part of who I am, but It doesn’t define me”
Meet some of our incredible ambassadors and their families. Learn how they pursue their hobbies and ambitions, despite the challenges HoFH can throw at them. Find out about their inspiring work they do and the challenges they face in their everyday life. They have many interesting “faces” you might not have known or thought of, yet they have just one heart. And our job is to protect it!
Are you an HoFH patient? Do you know an HoFH patient keen to be involved? Become an ambassador for the community, share your story, inspire, and help raise awareness! Together we can save hearts!
Athanasios “Thanos” Pallidis was diagnosed with HoFH at the age of four. As an adult, Thanos became a founding member and Vice-President of the Board of a Greek Familial Hypercholesterolemia (FH) patient association, progressing to become the President of the Board for a three-year term in 2015. He was also one of the early Trustees with FH Europe. Thanos has been nominated by FH Europe for a prestigious Black Pearl Award by EURORDIS in the Young Patient Advocate category in recognition of his work for the Greek, European and the international patient community
Avery Watts is a beautiful and vibrant 12 year-old girl who was diagnosed at the age of six with HoFH. Throughout 2020, brave Avery underwent two open-heart surgeries and in July 2020, she was one of the first pediatric patients to take part in a clinical drug trial for a new medication to treat HoFH, which has continued to significantly lower Avery’s cholesterol. Despite her lengthy absences from school, Avery is a straight "A" student attending a School for the Arts where she excels as both an Academic and Dance student.
Chyrel was born in Lebanon in 1990. When she was a baby, Chyrel’s mother identified xanthelasma on her body, which led to the early diagnosis of HoFH. While managing her rare condition she still is having a very fulfilling life, studying, working, traveling, living and loving. Due to the unstable situation in their home country, Chyrel and her younger brother Richard, who has also HoFH, wish they could move and work abroad. However as their lives depend on aphaeresis, the life-saving treatment required for their condition, the destination choices and opportunities are very limited.
Richard has a degree in interior design and loves a good adventure. Richard’s older sister Chyrel was diagnosed with HoFH as a baby so when Richard was born in 1992, he was also tested and diagnosed with the inherited condition at an early age. From the age of one, Richard followed dietary and medicinal treatment and began LDL Apheresis at the age 7. When Richard was 26, he underwent open heart surgery and has experienced epileptic episodes as a result of his condition. Despite the circumstances, Richard has never let HoFH hold him back from living a full and fast-paced life as a musician, adventurer and talented, young interior designer in his home country of Lebanon.
Meet Elsie - more familiarly known as ‘Cindy’ - nicknamed by her brothers after Cinderella as a child. Diagnosed with HoFH at the age of three, Cindy led a relatively normal life growing up in South Africa. Her family’s passion for travel was instilled in her from a young age which led her to travel to the UK and take up a degree in teaching. At the age of 20, Cindy experienced her first cardiac event which meant that she required weekly apheresis treatment, which restricted her desire to travel and progress with her career. Cindy has always been passionate about new developments and has been involved with the medical teams in trailing new FH treatments. Cindy is currently trialling new medication which has improved her condition and is, thankfully, allowing her to lead her life to the full.
Brussels Rare Disease Week
Brussels RDW is a week-long series of events organised by EURORDIS in Brussels, plus a series of preparatory webinars. The goal is to empower, rare disease patient advocates, with knowledge and skills to effectively participate in advocacy activities at the European level and as a result influence the EU decisions that have a direct impact on the lives of people living with a rare disease.
In 2020, FH Europe has been selected among few other European patient organizations and awarded a place in this project. Through RDW, the hope is to raise awareness of HoFH, the rare form of Familial Hypercholesterolemia, and, together with other advocates, to present a strong and united message to Members of the European Parliament (MEPs) and other policy-makers in Brussels on behalf of the rare disease community.
The first Brussels Rare Disease Week (RDW) will take place during the week of 22 February 2021, organised in the lead up to Rare Disease Day 2021 (28 February).
The week will be made up of events including training, meetings with policy makers and networking events. During the week, FH Europe Chief Executive will be able to put her knowledge into practice and raise awareness of HoFH at the European Parliament.
You can find more here:
Learn more about Thanos, HoFH and the EURORDIS Black Pearl Awards. Share on Social Media
Many Faces, One Heart
Find and share the images and the stories of our HoFH ambassadors
EURORDIS Rare Disease Day
Find additional resources for the Rare Disease Day 2021