Published: July 15, 2023

Patient Story - Living with HoFH


Meet Elsie Evans, known to her friends and family as Cindy. Elsie is a dedicated teacher, working in schools for special needs children. She is also FH Europe´s Ambassador Program Manager, a volunteer at HEART UK, a technology enthusiatst, loves to travel and is a great coffee lover. She is also rare disease advocate and patient living with HoFH.

She was diagnosed with the rare and severe form of inherited high cholesterol in her early childhood, when she was three and a half.  Ever since, it has been a challenging journey with healthcare, but new treatments are improving the situation.  A new medication trial has been a game-changer for her, and she is passionate about educating others about the condition. Volunteering with HEART UK and being involved with FH Europe, she hopes to create a community where patients can support each other and improve their well-being.

This is her story:

"Hello, my name is Elsie Evans, known to my friends and family as Cindy. I was born in South Africa, but have been living in the UK since 2000.

I have been in the education field for over two decades now, serving as a special education teacher in secondary schools for most of that time. Presently, I am an assistant headteacher in a primary school for special needs children. At 47, I have gained quite a bit of experience working with children with Autism Spectrum Disorder, and I find it very fulfilling. One of my most memorable experiences was leading my students on a special ski trip to Italy as part of the Surrey Special Ski initiative.

I was born in South Africa, where I received a diagnosis at the age of three. A GP was removing skin warts when he observed that they were not going away and referred me to a lipid specialist, Prof. Harry Seftel. When I was checked, my cholesterol level was 27. Mom was informed I wouldn't live past the age of 11, and there's no current treatment (more than 40 years ago).  I was given Questran and assigned to the Johannesburg research department. I was far too little to remember most of this, so it was up to my mother to cope with it all.  She did it with the fearlessness of a lioness (other animals available: D), regardless of knowing that they had advised her that my prognosis was poor.  I recall visits to the hospital, we would be there for an entire day, but she always came equipped with activities to keep me occupied.

I recollect going to parties with my personalised party pack.  I think about battling with school when I required time off as they didn't understand that I didn't look sick.  I recognise still accomplishing everything I set my mind to because I had the encouragement of my family.  I recall being frustrated when I couldn't do certain things. I know as a teenager I protesting against medication, as everyone does (anyone who has ever taken Questran would understand).  So there were a lot of hospital visits, blood tests, medication administered, and new treatment news highs and lows when they did not work or were not made available.

Thanks to a new medication, I no longer need weekly apheresis, which has made travelling and working much easier. To avoid any side effects and prevent liver conditions related to the medication, I have to follow a strict low-fat diet. While this can be challenging, I have become skilled at managing it over the past few years. I stay active by taking regular walks and having routine check-ups with my medical team every three months to monitor my levels and cardiac health. Recently, I realized I need to start planning for my retirement, which made me feel like a responsible adult. As we continue to explore more treatment options, I hope that healthcare providers will consider our overall well-being as patients.

My journey in advocacy began with my mother's passion for finding and fighting for better accessible treatments. She has been doing this for more than 40 years, and it's an impressive feat. My journey was a passenger but that changed when I was approached with a new treatment and decided to give it a try. It was a great decision and led me down a path of sharing my story and becoming involved in advocacy work. I am now working with FH Europe to help educate ambassadors about the conditions we advocate for and how to work with various stakeholders. I believe that to make a difference, we need to have a strong understanding of what we are advocating for and how to effectively communicate our message to others. By building our knowledge and understanding, we can work together to make a positive impact not just for ourselves, but for our wider community as well.

For several years, I had kept my life in separate boxes until I was introduced to a new treatment. As a result, I was asked to share my story which marked the beginning of my journey towards managing my condition, stopping weekly apheresis and getting back to things I love doing, also on a personal talking to others and actively being involved with this community.   I strongly believe that we can achieve our goals only if we work together as a team and gain a better understanding of how different aspects of our lives affect our community as a whole and understand that each will have their journey and story to tell.

Some of the biggest struggles I have faced is not looking sick.  It can be incredibly challenging to deal with an invisible illness. People around you may not fully understand the extent of your condition, and it can be difficult to explain it to them.  Sometimes, it can be tempting to pretend that you are not dealing with a serious medical condition when others cannot see it.  It became reality when suddenly I had more cardiac events, needing angiograms and stents, weekly apheresis, etc on top I then had to have more conversations with people around me, friends, and managers at work.

This was one of my biggest hurdles to overcome.  I find it difficult to cope with slowing down and being a patient, but my physical limitations have made it necessary. Ageing is a natural process that affects everyone, including those with underlying conditions. However, it has brought to light some issues that could have been prevented with better management.  The use of apheresis is restricted, medications are costly, and research and development tend to prioritise care after an event instead of preventative measures such as early screening to minimize harm.

It's incredible to see how rapidly things are changing. There is ongoing research into new treatments, and in the last six years, there have been more breakthroughs than I have witnessed in my lifetime. This gives me hope that future generations will have more support and be able to manage their conditions without it greatly affecting their daily lives. I anticipate seeing how personalised treatments evolve into practical approaches that prioritise the quality, rather than just the quantity, of life.  I look forward to a future where there won't be a need to advocate or share our stories. However, until then, we will still be here to support and advocate for those around us. I have a positive outlook on the future and intend to consistently show kindness to those in my life. I am eager to experience all that life has to offer, from travelling to new places to meeting new individuals and hearing their fascinating stories."

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