High cholesterol has been in our family for generations.  My Nana had a heart attack at 46, her brother died at 42, my dad has always had elevated cholesterol and my Aunty has high cholesterol too.  There was something going on in our family, but we had no idea what.

My dad tried for years to lower his cholesterol with lifestyle changes, but nothing worked.  Nobody could give him any answers as to why his cholesterol was so high. 

Thank goodness for a diligent GP who suggested my Aunty be tested for Familial Hypercholesterolaemia (FH) given the family history of early cardiovascular disease and elevated cholesterol levels.

This was the beginning of the FH diagnosis and our family’s FH journey.

My father was tested to see if he had the gene variant detected in my Aunty.  His diagnosis of FH finally gave us answers to why his cholesterol continued to be so high.

Given FH is genetic (runs in the family), my brothers and I each had a 50% chance of inheriting the defective gene.  Unfortunately, I was in the unlucky 50% and was diagnosed positive for FH at the age of 35.  Being detected at quite a young age meant I was prescribed a low dose treatment and am under ongoing monitoring to prevent future cardiovascular disease

Being a mother of two children, my immediate thought was about my children- how do I know if I have passed the gene variant to my children? At the time, luckily for our family, the age for testing children had been lowered and was covered by the MBS ensuring my 10 year old girl and 8 year old boy could be tested.  Both children had a simple blood test to determine if they had FH.

My son this time was in the unlucky 50% having inherited the gene variant and was diagnosed with Familial Hypercholesterolaemia.  From 8 years old he has been monitored by a Paediatrician who specialises in FH.  When the monitoring identifies elevated cholesterol levels, he will immediately commence appropriate treatment.  My daughter tested negative.

Whilst we’d all rather not have inherited FH, I am grateful for having access to family cascade testing, and the monitoring and treatment that keeps us on track to live healthy long lives.