Child-Parent Screening: Rebecca’s story

Rebecca McKenzie, a 42-year-old biology teacher from Cornwall, took part in a child-parent research study which resulted in her, her three children, her mother, brother, and two nieces being identified as having familial hypercholesterolemia (FH).

 FH happens when a person inherits a faulty gene from one of their parents. It can lead to extremely high cholesterol levels and, if untreated, can cause premature heart disease. Here, Rebecca talks about how the research study, which involved a simple heel prick test at her son Harrison’s one-year vaccination appointment, led to eight members of the family being diagnosed with FH.

“We received a letter through inviting us for Harrison’s routine MMR (measles, mumps, and rubella) vaccine and in with that there was a separate letter asking if we’d like to be part of the study. I said yes because it was just a heel prick blood test and, having had three children, I knew the heel prick blood test wasn’t as invasive as ordinary blood tests.

“When we went to the appointment Harrison had his MMR jab as normal and they took the heel prick bloods and sent them off and I didn’t think anything of it. It was a couple of months later when we got a letter through to say that he did have the faulty gene and would my husband Will and I come in so that our cholesterol could be checked as well. I was found to have higher cholesterol than normal, Will was fine.

“My bloods were sent off to be checked for the faulty gene as well and they found that I had the most common faulty gene. They then tested my two daughters Lucy and Emily, who are now 11 and 13, but at the time Lucy was four and Emily was six. Emily’s cholesterol was quite high and Lucy’s was extremely high so they were very keen to get Lucy on medical treatment quickly.

“The girls started on statins and to begin with we were a little concerned as there’s not that much data on the side effects of statins in children because there aren’t many children that take them, but they kept a close eye on them and we had regular check-ups every six months.

“We were told that if Lucy’s condition had not been picked up, by the age of 18 to 20 she would have had measurable build up in her arteries. Thankfully, Lucy’s numbers went down by more than 50% when she was put on statins which they were really pleased with. She’s now also on another combination drug that’s brought it down to almost normal which is amazing.

“Harrison, who is now nine, is being controlled with diet and lifestyle alone at the moment but he’s soon to start with statins.

“In addition, my mum and my eldest brother were also found to have FH as well as my two nieces.

“Since being diagnosed, we have become a lot more conscious about the saturated fats that we take in. I’m more mindful when shopping and I try to find alternatives. We’re still able to treat the kids to ice creams or chocolate but we do it in moderation. It’s made the kids much more aware of their food and it’s not been a scary process, it’s become normal. We can simply choose healthier alternatives so it’s what everyone should be doing anyway.

“It has been so helpful to know early on as it’s meant I was able to introduce and encourage good eating habits right from the start when Harrison started to eat solid foods. I’m sure many parents would agree that starting new healthy habits is easier than breaking bad ones! This developed into our ‘normal’ of watching our intake of saturated fats and making simple switches.

“I would encourage any parents who are invited to take part in the child screening programme via their GP to take the opportunity. It’s better to have all the information to be able to make that informed decision.

“For me, I didn’t need to think about it, I wanted all the information. I see it the same as the newborn heel prick test. If there’s an inherited disorder that is easily treatable and it’s just a little scratch to find out, then it’s worth it.”