Northampton teen raising awareness after newborn ‘heel prick test’ detected his rare condition

A young Northampton boy and his family are raising awareness for the rare genetic condition he was born with.

Alexanda Harvey, from Thorplands, was born with Phenylketonuria (PKU), which means he has a deficiency of a liver enzyme called phenylalanine hydroxylase (PAH).

The enzyme is needed to process an amino acid called phenylalanine (Phe), found in foods containing protein, which means Alexanda has to have an extremely low protein diet.

The condition, which is inherited and affects 1 in 10,000 babies in the UK, is detected by the ‘heel prick test’ completed on a newborn, which is how Alexanda’s diagnosis was made.

Now the 13-year-old is helping to raise awareness of the condition on International Phenylketonuria day (June 28).

Alexanda's mum, Libby Harvey, said: "I'd had three children before Alexanda who had all had the heel prick test and I thought nothing of it and certainly didn't know what it was for.

“We got Alexanda's results when he was 10 days old and it was a real shock as so little is known about it.

“Weighing Alexanda’s food has become second nature.

“Alexanda was only on four grams of protein a day for many years which was very tough especially as his favourite food is potato - mainly chips - and I would never have thought potato is too high in protein for someone to eat.

“Unfortunately before PKU was known about, anyone that had it would be severely mentally ill and also have other conditions like epilepsy.

“But thankfully today we can help Alexanda manage his condition through his diet.

“There is also a drug called Kuvan that could help so many people like Alexanda but unfortunately it is not available in this country on the NHS."

Libby is also running the London Marathon this year to raise money for the Helen and Douglas House hospice where Alexanda and her go for much-needed respite.

Visit the PKU Day website to find out more.