New Chesterfield mum calls on drug company to offer 'life changing' medication for rare condition to all ages

A Chesterfield mum is urging a drug company to offer ‘life changing’ medication to those suffering from a rare, life-long genetic disorder regardless of their age.

Wednesday, 17th March 2021, 2:04 pm

Emily Carmichael’s son Oliver was diagnosed with Phenylketonuria (PKU) – an inherited disorder which prevents the body from breaking down amino acids which build protein and can potentially lead to brain damage – when he was five days old after a heel prick test.

The mum from Holme Hall has to feed her three month old 68ml of baby formula five times a day along with a supplement called Anamix Infant and once he is weaning he will be on a strict diet of low protein foods such as chips, broccoli and peas.

He will need to be weighed for him for the rest of life.

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Oliver Webster was diagnosed with PKU fooling a heel prick test.
Oliver Webster was diagnosed with PKU fooling a heel prick test.

However, the National Institute for Care and Excellence (NICE) recently approved a new drug called Kuvan for children under the age of 18 to help them digest more protein and enable them to have a better quality of life.

But the 27-year-old mum is urging the company to extend the drug to people of all ages.

Emily said: "At quite an important time in your life when you are 18 and to stop the drug is cruel - to allow someone to have a normal life right up until 18 and then say ‘we're going to take it off you now’.”

There is no guarantee everyone who suffers from PKU will have a positive response to Kuvan and NICE outlined in their public consultation that their decision to restrict the drug to children under 18 is to prevent irreversible brain damage.

The three month old is on special formula to regulate his protein.

The mum who works for the NHS’ 111 helpline is concerned her son would struggle to adjust, after living his life more ‘normally’.

She added: "PKU is not a very spoken about genetic disorder.

"The drug would help him lead a more normal life.”

Emily has launched a donation page to raise funds for charity NSPKU which raises awareness of the rare, life-long condition and is holding a virtual raffle on April 11 with prizes to win.

Oliver with his sister Harper.

Every £2.50 donated will qualify for a strip of tickets and be added into the draw.

His mother is calling on NICE to offer the new drug to all ages.

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