It’s a tough ask for a six-year-old, but essential to stave off the risk of severe brain damage that her rare metabolic disease poses.
Tralee-based Maria is one of 743 adults and children in Ireland with PKU.
People with PKU are unable to break down an amino acid called phenylalanineand the disease requires those affected to adhere to a gruelling low-protein diet — 4g of protein per day for Maria compared to the average adult, without PKU, on 70g per day.
Maria’s mother, Bernadette, says half a Weetabix equals 1g; so does two tablespoons of peas and one third of an avocado.
“She cried the other night because she wanted more Weetabix,” Bernadette says.
Instead her little girl, who is largely missing the enzyme necessary to break down protein, must live off an unappetising synthetic protein mix, adhere to the tiny daily protein allowance, and try to bulk up with protein-free foods in an effort to remain healthy.
“I call the medicated foods ‘fake food’,” Bernadette says. “These foods include a bag of starched flour that we dye yellow and add onions and herbs and it becomes her omelette. We add salt, water, and oil to the same mix and it becomes her bread.”
Maria’s disease makes her particularly vulnerable if she gets sick. She developed a gagging reflux in May when a synthetic drink with too much sediment sent her blood protein levels into overdrive because she was too nervous to take this drink. “She stopped for six days which also affected her toileting. She developed an anxiety about eating. She thought she was going to choke. In the end we had to involve a child psychologist and pay privately to help her overcome the anxiety,” Bernadette says.
Bernadette, a health lecturer and spokesperson for the PKU Association of Ireland, says the bottom line is that dietary therapy alone is not enough to maintain metabolic control of blood phenylanaline levels — that patients must be given access to Kuvan. The drug, available in 19 other European countries and suitable for some forms of PKU, has been shown to significantly improve quality of life, improving mental functioning for users, reducing brain damage, and allow increased amounts of ‘normal daily food’ to be consumed.
State reimbursement of the drug was refused in 2009. The National Centre for Pharmacoeconomics again recommended it not be reimbursed in 2017, but the HSE has yet to make a decision on that recommendation.
Yesterday, the HSE’s national director of primary care, John Hennessy, told the Joint Oireachtas Health Committee “notifications” in relation to the Kuvan appeal were due to issue to the company — Cork-based BioMarin Europe Ltd — “in the next week or so”.
A paper by researchers at the National Centre for Inherited Metabolic Disorders in the Mater Hospital, published in the Journal of Inherited Metabolic Disease in September, showed that four young Irish patients with mild PKU who were given a low dose of the drug over a seven-year period had a “marked improvement in quality of life”.