Barry Joyce and Rachel Brannick with their children, Greyson and Addison
A Kilcock couple are campaigning for the HSE to fund an expensive drug which is their son requires to need a normal life.
Barry Joyce and Rachel Brannick are the parents of Greyson, who was born in the early hours of last St Stephen’s Day with a condition known as PKU (Phenylketonuria) which means that he cannot break down a protein known as phenylalanine.
As a result, it can accumulate in the body eventually causing severe brain damage, and a deterioration of cognitive function. It is believed that many cases of the PKU have gone undiagnosed for many years around the world and in Ireland. Phenylalanine is found in many foods, mainly proteins.
“As it happens phenylalanine is acutally toxic to all of us if we don’t break it down,” Barry told the Leinster Leader.
“But we all produce an enzyme which breaks it down, preventing it from becoming dangerous to us.”
People with PKU don’t have that enzyme, and the drug, Kuvan, essentially replicates that enzyme and breaks down the phenylalanine to become a sustance called tyrosine.
Without the medication, affected people must stay on a very restricted diet, with regular testing to make sure the amounts of phenylalanine are within acceptable levels.
However the medication has not yet become available in Ireland, because the process the HSE uses to decide on whether to fund a drug or not has twice turned it down as being uneconomical.
Although it can be toxic, as a protein a certain amount of phenylalanine is necessary for our growth and development.
Barry explained that the condition was detected in his son using the heel prick test.
He recounted how Rachel had received a call about a week after Greyson was born, telling her to come into Temple Street the next morning.
“I was in Roscommon at the time for work,” he explained, “I hopped straight into the car and headed for home.”
The following morning they went into the hospital and were told for the first time about PKU.
“We were told immediately to stop breast feeding,” he said. “We’re pretty much advocates of breast feeding so that was pretty hard to take.”
Things have settled down now for the young family. They have re-introduced some breast feeding, and they are now experts in what foods are ok and which are not.
“Every week on a Wednesday, we get a phonecall with a dietician from Temple Street, with a plan for the next week.
“And every sunday morning, before he eats, we conduct a blood test with a prick of his heel to test the tyrosine level.
Different people with PKU have different levels of deficiency of the enzyme, and it requires constant monitoring. Meanwhile he can get synthetic proteins which don’t contain phenylalanine in the form powder or gel form.
The long term prognosis is good.
“If you stick to the diet, there’s no reason you can’t live a full and wholesome life, albeit one where you never taste steak,” Barry said.
The PKU Association of Ireland says the process of deciding whether a drug is economical or not is flawed, and in the case of Kuvan, which is ironically made in Cork, designed to fail.
In simple terms, the drugs are tested on a large sample of people to measure their success in improving the lives of potential recipients.
Because PKU is much less common than, for instance, cancer, it cannot be tested on a large number of people, and therefore the results are skewed.
Therefore, the PKUAI believe Kuvan will always fail the test in Ireland.
It is available for people in most other countries around mainland Europe and in the western world.
According to Barry, while Kuvan doesn’t ‘cure’ PKU, it brings about significant improvements in quality of life, and reducing dependance on synthetic protein.