New Chesterfield mum calls on drug company to offer 'life changing' medication for rare condition to all ages
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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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Hide AdHowever, 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.
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Hide AdThe 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.
Every £2.50 donated will qualify for a strip of tickets and be added into the draw.