News - FH Europe Foundation

A Story of Resilience, Education, and Advocacy

My name is Maria Nassif, I’m 30 years old, Lebanese living in France.

I got diagnosed with HoFH when I was 3 years old when xanthomas started showing up on various parts of my body - elbows, wrists, knees, you name it. I have a very high LDL level compared to the normal. Instead of the typical 200 mg/dL, mine clocked in at 600 mg/dL. When I was 6 years old, I started taking my daily medicines and doing LDL apheresis. But the results after the apheresis showed my LDL-c remained stubbornly high at 400 mg/dL.

Growing up as a child with xanthomas wasn’t easy, especially as a girl. Everyone kept asking me about those orangey deposits that I have. I wasn’t really able to explain. The only thing I could muster was “It’s because I have eaten lots of sugar”. And of course, none of the children understood either, making them feel discomfort. Some of them were even afraid that whatever I had was contagious and refused to be near me, which affected my personality and self-confidence.

This reveals the importance of awareness both at school and at home, especially for children since they have to live with this rare disease from a very young age without really understanding what’s happening inside their bodies and why they find themselves in the hospital every two weeks with needles in their small veins.

As a student who took the science path at school, I started doing my own research and asking more questions about HoFH until I gained a clear idea in my head about what it is all about.

At 15 years old, I underwent my first screenings (echocardiography and Echo/Doppler tests) prescribed by my doctor. And it transformed into a yearly ritual.

Fast forward to when I was 24 years old. Despite the treatments and the yearly check-ups, I had to undergo open-heart surgery for having the two main coronary arteries blocked – the left one by 90% and the right one by 98%.

My older brother, who shares the same life experience (HoFH and having open heart surgery at 24 years old) became very concerned about his little sister. He put all his efforts to help me go to France because he learned that the medical system there is really advanced when it came to our condition. Another appealing point was the extreme care and honesty the medical staff have towards their patients.

In just two years of undergoing LDL apheresis in France, the xanthomas began to shrink and some even disappeared. Even the results after the apheresis were surprisingly very low (50 mg/dL).

Living with HoFH is quite a journey. As a chronic disease patient, I must be more aware of my diet, take my medicines every day and do my yearly checkups. And like every journey, this one comes with a host of challenges. Mine was sports and physical activities. I always loved to do sports - be it hitting the gym, swimming, playing tennis, volleyball, or dancing. As soon as atherosclerosis started to form, my body was getting tired very easily. My doctors advised me to back out from heavy physical activities. It was a shock for me that later led me down a path of depression. But life should move on. I did some more research on sports for people with CVHDs and Yoga and Pilates were the answer. They don’t only help the muscles stay strong but also calm the body. The breathing exercises regulate the heartbeat which is crucial for people like us. Irregular heartbeats can be mistaken for anxiety/panic attacks since they both have the same symptoms: racing heartbeat, difficulty breathing, dizziness, and insomnia. If left untreated, these issues can cause heart attacks further down the road.

Another unpleasant mental, emotional and physical outcome that arises specially for being a woman, is the challenge of having children. When a woman gets pregnant, her heart beats both for herself and her baby. In my case, that would strain my heart and lead to further complications. Second of all, my baby might be affected by FH so they would have to take medications, follow a strict diet and even face cardiovascular and heart complications. I wouldn’t want to subject a child in more misery in a world that is already challenging. Not to mention carrying and holding the baby and sleepless nights that will definitely make my body more tired.

I call it the silent pain. No one can really see what’s happening inside our bodies, the atherosclerosis in our arteries or the strain on our tired hearts. But I know I’m not the only one. That’s why I advocate for FH and HoFH and the treatments.

FH Europe Foundation Ambassadors have collaborated as part of the European Patients’ Forum (EPF) Taskforce on unmet needs, specifically the definition of 'unmet medical needs' and how it will shape the future of healthcare. This urgent and important issue arose in the context of the reform of the EU pharmaceutical legislation. In the spring of 2023, the European Commission adopted a proposal for a new Directive and a new Regulation, which revises and replaces the existing general pharmaceutical legislation (Regulation 726/2004 and Directive 2001/83/EC) and the legislation on medicines for children and for rare diseases (Regulation 1901/2006 and Regulation 141/2000/EC, respectively).

In a defining moment for pharmaceutical regulation in the European Union, Article 83 of the European Commission's proposal for a Directive on medicinal products for human use introduces the pivotal concept of "unmet medical need."

Over a number of weeks, the international patient advocates community brought together by the EPF, worked together to highlight the need for more inclusive approaches beyond morbidity and mortality. To develop a fair and equitable definition, they wanted to ensure the patient's voice was heard. The Taskforce believes that patients should play an active role in shaping the definition of unmet medical needs as they are the ones directly affected by it. By incorporating their perspectives and experiences, a deeper understanding of the challenges they face and the gaps in healthcare that need to be addressed is gained. Through this collaborative effort, the Taskforce hoped to create a definition that truly reflected the diverse needs of patients and paves the way for a more patient-centred healthcare system.

“If the EU only looked at morbidity and mortality as signs of unmet medical need, they would miss other vital life-changing signs that may need significant therapeutic improvements from a patient's point of view, like how well current treatments are working or how they affect the quality of life”

We thank the Ambassadors involved in this project, ensuring the needs of the community affected with inherited dyslipidaemias are well represented, especially in the context of primary and secondary prevention, quality of life and precision medicine delivery for patients with FH, HoFH, elevated Lp(a) and FCS.

A position paper on this crucial topic prepared by the EFP has now been published.