Patient Ambassador Maria Nassif participated in the 4th edition of HealthTech for Patients event on May 16, 2024, hosted by HealthTech for Care. She shared her journey with HoFH, highlighting mental health challenges and daily struggles of living with a chronic illness.
Maria emphasized the need for early diagnosis, personalized treatment, universal access to care, effective communication with healthcare professionals, psychological support, and a strong patient community. Her participation underscores FH Europe Foundation's commitment to raising awareness and advocating for comprehensive patient care.
On 16 May 2024, I participated in the 4th edition of Health Tech for Patients organized by Health Tech for Care as FH Europe Foundation Patient Ambassador. I took part in the first round table which tackled the impact of illness on mental health: from screening to post-treatment. As a HoFH patient, I have talked about my journey with this rare disease from diagnosis until today. Having a chronic disease has affected my self-image and physical ability. The symptoms that I feel daily (i.e. racing heartbeat, tightness of chest and constant fatigue) make me wonder whether I am having a heart attack or stress especially since I underwent a double bypass open heart surgery at 24 years old. This constant fear put me in a freeze-or-flight state causing me panic attacks and depressive episodes. Our disease affects every aspect of our life (food diet, activities, outings, social life) and our future (choosing a partner, having a baby, work activity …). It takes a huge mental effort to balance between our lifestyle and our commitment towards our well-being.
Sharing my story on a global level and being the patients’ voice is very important to me. It helps bring more awareness about HoFH since it’s a silent disease and its symptoms are not visible on the outside. The most crucial part of my talk was the conclusion where I listed what we, as patients, need to be put in place to help us alleviate the burden of having a chronic disease and its effects on our mental health which included:
About HealthTech for Patients
HealthTech for Patients (HTFP) serves as a platform for patients to express their needs and discover innovations in healthcare by reuniting health innovation stakeholders. Organised by HealthTech For Care, the event aims to bridge the gap between healthcare professionals and patients, establishing an open exchange platform that enables professionals to better understand the perspectives, needs, and experiences of patients. The event brings together all the players involved in the medical innovation value chain, which enables better coordination within the European health ecosystem to accelerate the deployment of innovative solutions for all patients.
Knowledge about how HoFH impacts people’s lives is scarce. There have been limited studies conducted to understand how this ultra-rare condition affects diagnosed individuals and their family members, who often act as caregivers. Having identified this knowledge gap, back in 2023 FH Europe was pleased to be involved in the development of a survey supporting a research project designed to better understand the challenges faced by the HoFH community. Our international HoFH Patient Ambassadors were actively contributing to the process of the research survey design, which was launched a year ago in English. Now we are pleased to share it in additional 5 languages and to invite you to take part in it.
But first we wish to share more information to help anyone interested make an informed decision about their participation.
The survey is being conducted by a scientific research consultancy called Putnam PHMR, which was commissioned by a pharmaceutical company, which we collaborate with.
The survey will be open to anyone, who is:
All results from the survey will be anonymized and no personal data will be shared. This means that the research team and the company funding the survey will not see any personal details. Information given during the survey cannot be used in any way to identify an individual.
The results of this survey will inform regulators and health policy makers, on what it means to live with HoFH, or to care for someone living with HoFH. The findings will also be published and be made available through Open Access for the benefit of people with HoFH and anyone with an interest in the area.
The goal of this survey is to provide critical information about what it means to live with HoFH to help inform regulators and policy makers, who make decisions affecting the treatment and care of people living with HoFH. It is also intended to help identify gaps in support to promote new initiatives.
Arabic: https://phmr.eu.qualtrics.com/jfe/form/SV_6JUTxu4BWBd8e0u?Q_Language=AR
English: https://phmr.eu.qualtrics.com/jfe/form/SV_6JUTxu4BWBd8e0u
French: https://phmr.eu.qualtrics.com/jfe/form/SV_6JUTxu4BWBd8e0u?Q_Language=FR
German: https://phmr.eu.qualtrics.com/jfe/form/SV_6JUTxu4BWBd8e0u?Q_Language=DE
Italian: https://phmr.eu.qualtrics.com/jfe/form/SV_6JUTxu4BWBd8e0u?Q_Language=IT
Spanish: https://phmr.eu.qualtrics.com/jfe/form/SV_6JUTxu4BWBd8e0u?Q_Language=ES-ES
-- Deadline to respond is 31st of July. --
For additional questions please contact Elsie Evans (elsie@fheurope.org), FHEF Education Manager.
May the 4th is special! Not only because it is the official day of celebration for Star Wars fans around the world but, this year, it marks the launch of the first awareness day for Homozygous Familial Hypercholesterolaemia (HoFH).
HoFH is a rare and severe genetic disorder characterised by extremely high levels of LDL cholesterol from birth. It affects approximately 1 in 300,000 individuals worldwide. The excessive buildup of LDL cholesterol can lead to the early onset of heart health issues, coined with the term cardiovascular disease (CVD), including heart attacks and strokes, even death, as early as the first decade of life. Due to its rarity, the situation of people with HoFH is often overlooked, which does not do justice to the gravity of the condition and the challenges patients with HoFH and their families face. Nor is the importance of early diagnosis and immediate treatment of people with HoFH widely understood amongst the medical and lay public.
With the theme One Galaxy, One Heart: UNITE FOR HoFH AWARENESS the community hopes to evoke the spirit of unity, solidarity, and collective action in raising awareness about HoFH. The occasion has already activated global stakeholders and supporters operating in the space of cardiovascular health, inherited lipids, patient advocacy and more. Motivated by a shared desire to shine a spotlight on what it means to live with HoFH and to prevent the preventable, the FH Europe Foundation and the international HoFH Patient Ambassadors and their families, invited to join forces with the World Heart Federation, the European Atherosclerosis Society, and the International Atherosclerosis Society, Global Heart Hub, the Iraqi Lipid Clinics Network, the Family Heart Foundation and many more organisations and individuals in the campaign.
“The patients’ community chose May the 4th given its association with the Star Wars phrase ‘May the Force be with you.’ Just as the characters in Star Wars bond together to overcome challenges, people and families affected by HoFH can find strength and support in their community.” said Elsie Evans, FH Europe Foundation's Education Project Manager and an HoFH Ambassador.
The campaign will raise awareness of the need to urgently improve early detection with increased systematic childhood screening programs, ensure correct and timely diagnosis combined with equitable access to treatment and genetic counselling for those affected with this rare and severe disorder.
Prof. Albert Wiegman, from the Netherlands, the world expert in treating children with HeFH and HoFH, is excited about the new era “Effective treatments to lower the extremely high blood cholesterol to normal levels are being developed or improved and approved for children. But …while those, who are in the greatest need of these treatments are being detected in one country, in another country they are hardly diagnosed or far too late. Unthinkable but true. There is urgency to find them early and to treat them well. It will add decades of healthy life years. Creating awareness is vital!”
According to Chyrel Lichaa, HoFH Ambassador from Lebanon and the Project Manager for the campaign, “As HoFH patients, we should not have to let healthcare uncertainties dictate how we lead our lives or stand in the way of our happiness. True care extends beyond medication; it embraces our emotional and mental well-being. We deserve better than to be at the mercy of treatment availabilities. Unfortunately, some of us face the challenges and limitations of having HoFH daily.”
"We are thrilled to announce the launch of HoFH Awareness Day," said Magdalena Daccord, CEO, FH Europe Foundation. “By uniting, we gain more visibility and a stronger voice. We can inform the public, medical community, and policymakers on how to diagnose early and support better people with HoFH and their families. We also want to draw attention to the fact that while HoFH can be diagnosed and successfully managed, due to the complexity of care, low level of awareness about FH in general and other factors including cost of treatment, there is huge variation in detection and the level of care around the world.”
In effort to raise awareness and to unite the global HoFH community, we are delighted to announce a dedicated logo competition. The idea behind it is simple. An open invitation to the public to create a logo for the community and the day will stimulate a participatory element of the campaign. The possibility to participate will be open till September 24th, which marks the FH Awareness Day, building a bridge between the two important dates.
Let's dive deeper into the heart of the campaign, the voices of international Ambassadors and advocates as they share their powerful messages on why HoFH Awareness Day matters. We thank the community from around the world for being part of this galactic initiative! As the messages keep pouring from all corners of the galaxy, we wish to express heartfelt thanks to patients, families, friends, doctors, nurses, pharmacists and many many more supporters whether from Europe, South Africa, Tanzania, Ethiopia, to Lebanon, Syria, Iraq, Afghanistan, Pakistan, as far as Australia, the US & many more for sharing their video messages. We keep posting them on our YouTube channel. Today, we invite you to meet Marc, Michelle, Prof. Wiegman, and Elsie.
Marc Salloum: 13 Year old boy living with HoFH from Lebanon
Marc decided to take part to tell his story. As a consequence of HoFH, Marc has visible cholesterol deposits under his skin. Unfortunately, children and adults around him are unaware of this rare disorder. They often make hurtful comments, which upset Marc. Here is why he thinks a dedicated HoFH Awareness Day is needed.
Michelle Watts: an Ambassador for HoFH and HeFH from the USA
She is also a caregiver for her daughter with HoFH. Michelle over the years has been involved in awareness raising about rare and severe lipid disorder. Here is why she thinks a dedicated HoFH Awareness Day is needed.
Prof. Albert Wiegman: Paediatric cardiologist from the Netherlands
Prof. Wiegman has been treating families with FH (HeFH and HoFH) for over 3 decades. Here is why he thinks a dedicated HoFH Awareness Day is needed.
Elsie Evans: an Ambassador for HoFH from South Africa
Elsie is an Education Manager with FH Europe Foundation and HoFH Ambassador, she originally comes from South Africa and she currently lives in the UK. Throughout the past few years, she's been advocating for stronger support for families affected by HoFH and promoting research about HoFH in adults. Here is why she thinks a dedicated HoFH Awareness Day is needed.
Here's how you can join the rebellion and make HoFH Awareness Day an event to remember:
For more information on how to support this campaign and to get involved here or follow us on social media using the hashtag #Unite4HoFH
HoFH Awareness Day 2024 activities are supported by funding from Arrowhead Pharmaceuticals, Chiesi, Regeneron, and Ultragenyx.
For media inquiries, please contact: gc@fheurope.org.
Remember, the Force is strong when we stand together. Let's use our collective power to shine a light on HoFH and make a positive impact on those affected by this condition.
HoFH Awareness Day campaign kicks off with plenty of surprises in store. Stay tuned for more updates. Together, we'll triumph over the dark side of HoFH!
Are you ready to make a difference and showcase your creative talents? We, the HoFH community under the umbrella of FH Europe Foundation, call on all artists, designers, and creative enthusiasts from all walks of life to participate in our exciting logo competition for HoFH Awareness Day!
Whether you're a seasoned designer or simply passionate about raising awareness or drawing and telling a good story with your art, this is your chance to be part of something special. Read on to learn how you can save lives and unite a global community of individuals and their relatives living with a rare disease.
What is HoFH? HoFH is a rare genetic condition that affects individuals from all backgrounds and walks of life. It's characterized by dangerously high levels of LDL cholesterol, leading to an increased risk of premature cardiovascular disease. Despite its rarity, HoFH can have a profound impact on individuals and families, making awareness and support crucial. HoFH is a genetic condition, when a child inherits a copy of the same FH-causing gene from both parents. Although it is very severe and rare, it can be treater effectively. Yet, awareness, diagnosis and equitable access to medication is a serious issue leaving many at a risk of heart attacks and even death very early in childhood.
Why a Logo Competition? Why engaging the Public? We believe that raising awareness starts with a powerful symbol that resonates with people from all walks of life. That's why we're inviting YOU to design the official logo for HoFH Awareness Day! Your design will serve as a beacon of hope, unity, and support for those affected by HoFH, while also raising awareness in the wider community and helping prevent the preventable.
One Galaxy, One Heart: Unite for HoFH Awareness!
Your design will become the official logo for HoFH Awareness Day, leaving a lasting impact on the global community.
For inspiration, hear the stories from some our ambassadors on our HoFH webpage
Chyrel Lichaa (Read bio)
HoFH Patient Ambassador
Lebanon
Prof. Albert Wiegman (Read bio)
Paediatrician
The Netherlands
Prof. Marina Cuchel (Read bio)
Researcher
USA
Mateusz Szwachta (Read bio)
EAS Communication & Community Manager
Sweeden
Sara Otter (Read bio)
FHEF Artistic Ambassador
UK
Marc Salloum (Read bio)
HoFH Patient Ambassador
Lebanon
Kristýna Čillíková (Read bio)
Vice Chair CAKO
Czech Republic
Don't miss your chance to be part of something meaningful and make a difference in the fight against a rare and severe cardiovascular disease. Join us in raising awareness, promoting unity, and empowering individuals and families affected by HoFH. Together, we can create a brighter future for all.
For more information and updates, visit www.fhef.org, follow #Unite4HoFH or contact us at chyrel@fheurope.org .
Get creative, get involved, and let's unite for HoFH awareness!