Parents of seven-year-old autistic boy with rare protein allergy go to court to fight for 'life-changing' drug on the NHS

  • Child A has phenylketonuria (PKU) meaning he cannot process amino acids 
  • He also has autism meaning he has issues eating the specific foods he needs
  • Birmingham Children's Hospital advised presciption Kuvan to improve his life
  • NHS England refused this on cost grounds, which his parents say is 'inhumane' 

The parents of a boy suffering with a rare genetic condition are returning to court in an 18-month legal battle to get him a 'life-changing' drug that was deemed too expensive by the NHS.

The seven-year-old, known only as Child A, has phenylketonuria (PKU), which can cause brain damage and irreversible disabilities if left untreated.

His PKU means his body cannot process an amino acid found in most protein-rich foods.

Doctors treating the boy at Birmingham Children's Hospital have advised that he should be prescribed a drug known as Kuvan, but NHS England denied it

Doctors treating the boy at Birmingham Children's Hospital have advised that he should be prescribed a drug known as Kuvan, but NHS England denied him it on cost grounds

The boy also has severe autism, which means he has issues eating the specific foods he needs, leading to dangerous levels of protein in his blood.

Doctors treating the boy at Birmingham Children's Hospital have advised that he should be prescribed a drug known as Kuvan, which would reduce the danger and let him lead a more normal life.

WHAT IS PKU? 

 Amino acids are "building blocks" that our bodies use to make our own proteins. 

People with PKU can't break down the amino acid phenylalanine.

This then builds up in the blood and brain and can potentially lead to irreversible damage.

Newborn babies are offered screenings within a few days to test for PKU. 

If caught early, the symptoms can be fairly minimal, but the longer it goes undiagnosed, the more the risk of serious brain damage and disability. 

PKU affects roughly 1 in 10,000 UK babies, and can be passed down genetically.

Source: NHS Choices 

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But NHS England has refused to give him the expensive treatment, which it says is not cost-effective.

His family has been battling the decision in the courts since October 2016.

The boy's father previously branded the decision 'extremely frustrating, unfair and inhumane' and added: 'No family should have to fight with the NHS for over 18 months to ensure that their child is given proper treatment.

'It is clear to me they do not want to fund this life-changing drug.'

Professor Anita MacDonald, consultant metabolic dietitian at Birmingham Children's Hospital, said it has brought 'appalling strain' to the family and added: 'The NHS' refusal to provide the treatment is not in the best interests of the child.'

Eric Lange, chairman of the National Society for Phenylketonuria, described the decision as 'shocking and inhumane' and accused the NHS of 'failing people with PKU in the UK'.

'The UK is one of the few countries not using BH4 (Kuvan), which is widely used across the EU and even in lower income countries such as Russia and Bulgaria,' he said.

The case is due before Dame Geraldine Andrews at London's High Court on Tuesday for a two-day review hearing.

The parents of an autistic seven-year-old boy with a rare protein allergy have won a second chance to fight for a 'life-changing' drug 

The case is due before Dame Geraldine Andrews at London's High Court on Tuesday for a two-day review hearing

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