‘No one in school knows there is anything wrong with Charlie anymore’

The life of Charlie Macedo- Box (11) and his family has been "dramatically different" since he started taking the first drug developed to help in the treatment of the metabolic disorder PKU, according to his mother, Mandy Macedo.

The youngest of three boys, he could eat only three grams, or “exchanges”, of normal protein before. Now he can consume 15 a day.

“He can eat real food”, says Macedo from their Surrey home in the UK. And it means weekends are no longer spent preparing meals that Charlie could eat at school and home during the week ahead.

For a start he can now have any cereal for breakfast instead of only the low-protein PKU cereal. She delightedly reels off other items that are now on his menu, such as: all vegetables, potatoes in any form, an adult portion of chips, yogurt, real rice, crisps, ice-cream, cakes. “Now, as he goes to school, nobody is going to know there’s anything wrong with him,” she explains. “He is very, happy.”

Initial free supply

Initially Charlie got one month’s free supply of Kuvan, which the drug manufacturer had offered to children with PKU, with the proviso that, if it worked for a child, the

National Health Service

(NHS) would continue funding. Although no such promise had been given, Charlie took Kuvan for a month to see whether or not he would respond, and later for a second month when it was deemed that the protocols had not been strictly followed the first time.

Although Charlie's consultant had told Macedo that it probably wouldn't work because his condition was severe, "it worked really well," she says. The NHS agreed to fund the drug for him through Great Ormond Street Hospital for a further year with a review after 12 months.

That was two years ago. Macedo got worried when the 12 months were up but she has heard nothing and the drug is still being supplied.

She thinks the cost is £20 (approx €27) a tablet and Charlie takes six a day but dosage depends on height and weight of the child.

Macedo seems a strong advocate for her son and the PKU community in the UK. She works for a drug company so understands the business and she founded the action group Phedup to campaign for access to treatment for PKU.

The NHS said last September that it would not be funding the drug and Macedo believes Charlie is the only child in the UK taking Kuvan, apart from some involved in ongoing clinical trials.

Kuvan is a so-called “orphan drug”, she says. This is a global status of drugs that companies, under agreements in the US, EU and elsewhere, are given incentives to develop for treatment of rare diseases, in recognition that they will never be commercially viable.

As far as she is concerned, countries that then refuse to fund a proven orphan drug such as Kuvan are not fulfilling their part of the bargain and are letting down patients. She finds it “upsetting” that some of the poorer countries in Europe are paying for it and not the UK.