My FH journey began about 10 years ago in my late twenties when one of my health professionals suggested a cholesterol panel as part of a wellbeing check. My results indicated that my Total Cholesterol was over 10 and my LDL Cholesterol above 7. My GP reviewed my results and gave me a factsheet about a low cholesterol diet. He did not mention medication or genetics, nor did he do further tests. This was my first experience seeking support for my elevated cholesterol and it demonstrated a serious gap in FH knowledge in Australian health care.

I tried to eat a vegetarian diet, and though my cholesterol remained unchanged, I was not overweight and generally healthy and so I forgot about my high cholesterol.

A few years later, I saw a new GP and he tested my cholesterol as a routine health check. I only then remembered my previous abnormally high cholesterol. My new GP referred me to a cardiologist immediately after receiving the results, and after applying the Dutch Lipid Clinic Network Score, I was diagnosed with FH.  I was put on a moderate dose of Atorvastatin, and advised that if I did not medicate, I would develop heart disease in ten years’ time.

The cardiologist gave me a stress test and a CT Coronary Angiogram. The stress test result was normal and my calcium score was zero. Because my heart was in such good health, the cardiologist told me to come back in 5 years and added Ezetimibe to my meds.

In hindsight and with the knowledge I now have, I realise that this approach demonstrated a lack of ongoing support in the Australian healthcare system for FH sufferers, as I was to be left without specialist care for 5 years. There was no continuity of care between my GPs and other healthcare professionals. But I did not accept that outcome.

I was worried about the side effects of the long-term use of Statins, and tests had shown elevated liver readings. I researched Statin therapy and debated the benefits and risks of their use. My Statin dosage alternated up and down and finally after almost a year of debate with my GP and following an increase in my own FH literacy using online resources like the Family Heart Foundation, I went on the maximum dose of 80mg of Atorvastatin, I was directing my own treatment plan learning about FH and advocating for myself  as I became increasingly concerned about my FH condition, and horrified to learn how it could shorten my lifespan.

I lost weight, dieted, exercised and shifted towards a plant-based diet. I saw the Family Heart Foundation as a life-saving organisation for people like me. The Family Heart Foundation advised people to get their cholesterol as low as possible, and to take the maximum tolerated dose of lipid-lowering therapy available. It was through the Foundation that I learned that every FH patient should be managed by an FH specialist or lipidologist until they are stable. I wrote a draft letter about my health and asked my GP to use it to write a referral for me to the Royal Prince Alfred Hospital (Sydney) Vascular Health Clinic, which is a specialist in FH care, and I was accepted, after a long waiting period, as one of their patients.

The clinic organised my genetic test which confirmed my FH gene variant and also tested my Lp(a) level which can further contribute to early onset heart disease.

On 80mg of atorvastatin and 10mg of ezetimibe, I have had my cholesterol reduced to a minimum of: Total Cholesterol 3.3 and LDL Cholesterol 1.5 but I do so wish my cumulative exposure to cholesterol since birth and increased disease burden of being untreated until when I was in my thirties could have been prevented with childhood FH screening.

I am excited to be involved with FH Australia. It is the first patient-centred FH organisation in Australia and expect it will fill a knowledge gap that I had previously experienced until I found the US-based Family Heart.  I am honoured to be invited to write about my FH story, and it is a dream come true to help the FH cause. This is living life to the fullest.

Last year, my calcium score was zero again, and this is in part due to my ongoing adherence to FH treatment. With my story, I hope to inspire everyone to take care of themselves.