Children dying because ‘second-rate’ screening misses rare conditions

By Helen-Ann Smith, news reporter

Children in the UK are dying because not enough rare genetic conditions are being screened for at birth, according to a new report.

Genetic Alliance UK has called the country's screening programme "second rate". The NHS conducts just nine tests on newborn babies, compared with 43 in Italy and 57 in the US.

The tests in question normally happen when a baby is about five days old, with a heel prick blood spot test screening for conditions such as cystic fibrosis and sickle cell disease.

This can mean children grow up with undetected rare conditions, delaying potentially life-saving interventions.

Image: Alex was a healthy baby, but problems emerged when he was seven years old

Sara Hunt's eldest son Alex was a healthy baby, but at the age of seven he started having problems with his eyesight, hearing and balance.


He was diagnosed with Adrenoleukodystrophy (ALD), a genetic degenerative brain condition. He battled the disease for 12 years but died in 2012.

She said: "If he been diagnosed earlier, for example at birth, he could have had treatment with a bone marrow transplant. His outlook would have been totally different."

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Sara Hunt's son Alex died of a genetic degenerative brain condition
Image: Sara Hunt's son Alex died of a genetic degenerative brain condition

Alex's younger brother Aiden was tested when he was still a baby, and was also found to be a carrier.

Ms Hunt added: "Aiden was a year old when Alex was diagnosed – as he was gaining skills, Alex was losing skills, so that was tricky.

"We found out that he had the same diagnosis, but we had greater hope for him because it could be monitored. Once they saw signs developing, he could have a transplant.

"When he was seven years old these signs started to happen, he had a successful bone marrow transplant. He's now 19 at university living a lovely life, one that I wish Alex had."

Alex suffered from ALD for 12 years and died in 2012
Image: Alex suffered from ALD for 12 years and died in 2012

The report found that at least 13 additional conditions could be identified using samples already taken.

Extending screening programmes would not only save lives but give parents access to information to help them with future reproductive planning, the report added.

Jayne Spink, the chief executive of Genetic Alliance UK, said: "The pace of adoption of new bloodspot screening programmes in the UK has Read More – Source

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