Call the Midwife aired a PKU storyline last night (May 16) and it’s been widely praised by both sufferers and parents of babies who have been diagnosed with it.
But what is PKU? Is it curable – and can it be life-threatening?
What happened in Call the Midwife last night?
In last night’s Call the Midwife, viewers watched as Elaine was diagnosed with PKU.
It was picked up after Sister Julienne noticed worrying symptoms as she visited her expectant mother at home for a routine check up.
Dr Turner (Stephen McGann) explained to her devastated parents Vera and George: “Elaine was born unable to rid her body of a chemical in her diet called phenylalanine.
“This chemical built up in her bloodstream and has had a harmful effect on her brain.”
Later in the episode, when the couple’s new baby was born, it was seen having the new heel prick test.
This detects PKU at just five days old – and early treatment is vital.
So what is PKU?
According to the NHS, Phenylketonuria (PKU) is a rare but potentially serious inherited disorder.
In last night’s episode, both of Elaine’s parents were shown to be carriers of PKU.
The NHS website explains: “Our bodies break down the protein in foods, such as meat and fish, into amino acids, which are the building blocks of protein.
“These amino acids are then used to make our own proteins. Any amino acids that are not needed are broken down further and removed from the body.
“People with PKU cannot break down the amino acid phenylalanine, which then builds up in their blood and brain. This can lead to brain damage.”
Babies are now tested at five days old and, if confirmed, treatment will be given straight away to reduce the risk of serious complications.
Treatment includes a special diet and regular blood tests and, with early diagnosis and the correct treatment, most children with PKU are able to live healthy lives.
Around one in 10,000 babies born in the UK has PKU.
Symptoms of PLU can include behavioural difficulties such as frequent temper tantrums and episodes of self-harm.
Eczema, tremors and epilepsy are among the symptoms and, while it isn’t life-threatening, there is currently no cure.
How did viewers react to the Call the Midwife PKU storyline?
Viewers praised the BBC for highlighting the “rarely mentioned” condition.
“Thank you so much for bringing this to attention. Our son has #PKU and he is so very lucky to have had his diagnosis early and is happy and healthy,” said one viewer.
“Thank you for highlighting #pku so sensitively and well. A condition that is rarely mentioned,” said another.
“So brilliant of #CallTheMidwife to do a #pku storyline,” said another.
36 years ago I was diagnosed with #pku. This test allowed me to lead the life I do today. Tonight’s episode also gave me an insight into what my parents went through
“My mum was just 19 when she had her first child, my sister, a PKU baby in 1968. She got treatment straight away and is fine. But it is a life-long illness and she’s always had to be on a special diet.”
Another revealed: “Not an easy watch to be honest but unbelievably grateful for that heel prick test.”
“Just watched #callthemidwife – so grateful for the heel prick test,” said another.
They added: “36 years ago I was diagnosed with #pku. This test allowed me to lead the life I do today. Tonight’s episode also gave me an insight into what my parents went through.”
“PKU sounds awful,” said another viewer.
“Yet another subject beautifully and sensitively dealt with on here. The are slowly covering everything… an education we all need,” they concluded.
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