Family's fight for drug that could help son with rare condition

Peter and Kim Backler’s son Stanley has Phenylketonuria (PKU), which means he has to follow a low protein diet of just 12 grammes a day. He cannot eat any meat and has to take four to five sachets of supplements a day. If he didn’t stick to the plan his protein would rise and it could result in brain damage.

His younger sister Sadie, aged four, also has PKU but due to Stanley’s autism it can be difficult to get him to take the supplements and he often licks the powder with sugar or gravy granules. Last summer he refused to take them at all.

Peter, 35, said: “We had mad panics trying to get him to have it.

“It is difficult to reason with him. He doesn’t understand the condition either.”

The couple, of Kendray Close in Belper, believe that Kuvan - a drug available in America that helps the faulty enzyme in the blood work better - would benefit them as Stanley would only have to take one tablet a day. They have put in two funding requests to NHS England, but both were refused because Stanley’s case was not classed as exceptional enough.

Peter said: “Other children have been accepted. I can’t imagine they are more exceptional than Stanley.

“As a family we feel we are walking a tightrope wondering when he’s going to go off it again. We had four to five weeks of pure hell last summer.”

They can now re-apply with clinical evidence but, said Pete, Stanley would be unable to take part in drugs trials because of his autism.

He said: “We are fighting a battle when we don’t even know if he would respond to the drug but the doctors at Birmingham Hospital think he would. It’s starting to feel like he’s being discriminated against.”

Stanley was diagnosed with PKU a few days after he was born following a heel prick test. He was diagnosed with autism at the age of three.

An NHS England spokesperson said: “These are incredibly difficult situations, and we have every sympathy with all patients with rare diseases for which no reliable treatment exists.

“Decisions on specialised treatments for rare diseases are taken on the advice of clinical experts who evaluate the best available evidence.

“We recognise that some of our decisions will be difficult for patients and their families to accept but can assure patients that each individual funding request for drugs that are not commissioned routinely by NHS England is carefully considered on the clinical evidence and circumstances of the patient. Where applications are unsuccessful, clinicians can resubmit requests with further clinical evidence and we will reconsider the case.”