I was in my 50’s when I found out my dad had actually died of a heart attack in his early 60’s.  Given my family history, my GP suggested we should check my cholesterol.  The result from that test shocked me.  I felt healthy and fit and yet I still had a cholesterol level that was very high, especially my LDL (bad) cholesterol. 

My next step was being referred to a cardiologist to look further into what was going on.  He ordered an echocardiogram and ECG, completed a “Dutch Lipid Score” to look at other indicators and decided we needed to determine if I had inherited high cholesterol, passed down in the family rather than it being from diet or lifestyle.  I wasn’t aware there was such a thing as inherited high cholesterol, so I was keen to find out given I have three boys. I was referred to a Lipid Clinic in a public hospital and had a blood test to determine if I have inherited high cholesterol. It was here I discovered I have what’s called Familial Hypercholesterolaemia (FH).  I had inherited a faulty gene from my father which meant my body couldn’t clear the cholesterol out of the blood and hence the high levels.

I was immediately put on medication to reduce my cholesterol levels.  My LDL cholesterol levels have continually been monitored, however getting my LDL cholesterol levels down to where it needs to be if you have FH proved difficult. I was made aware of a new treatment called Repatha, that significantly reduces LDL cholesterol levels and qualified to receive it, so I went onto this treatment.  Repatha has been very effective, injection every two weeks at home and my LDL cholesterol levels are now well below 2. Based on my eligibility, Repatha is covered under the PBS.

Once I knew I had FH I was keen for my adult children to be tested. They are young fit men, and we wanted to know if they too had inherited the gene. The not so good news is all three have inherited FH, however they know they are still young, are on medication and monitored and can expect to live a lifespan similar to that of the general population. I have also provided information on FH to my siblings, so they are aware of the need to be tested for FH within our wider family.