Sheffield pilot scheme helps tot tackle rare disorder

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Toddler Phoenix Thompson is ‘a typical cheeky, active little boy’ – but his development has only been possible thanks to a screening test that has been piloted in Sheffield.

Specialists at Sheffield Children’s Hospital detected a rare condition, called glutaric aciduria type 1, in 16-month old Phoenix as they piloted the new screening programme.

The successful scheme, which tests babies for four additional conditions, including GA1, is now being rolled out across the country.

Testing for these conditions, leading to early detection and treatment, will prevent babies affected from dying or being severely disabled for the rest of their lives.

Phoenix’s mum, Michelle, said: “It is unexplainable how important the screening was for him and our whole family.

“To give him the right care, we needed to know his needs are different.

“I think it is essential they are rolling the screening out across the country.

“There are children who can be picked up now who wouldn’t have been before.

“For each individual child and their family, it is life-changing. I’m massively grateful the testing was there for us.”

The disorder Phoenix has causes him to have difficulty breaking down the building blocks of protein, which can cause harmful substances to build up in the blood and urine.

However, with supplements and a managed diet, it is possible to prevent the harmful build-up.

Michelle, of Lincolnshire, said Phoenix’s doctors have been brilliant in helping him to develop.

She said: “Dr Sufin Yap from the hospital is incredible – we couldn’t want any more from a doctor.

“She goes above and beyond because she really cares. To have someone there with that incredible knowledge, support and dedication is quite overwhelming really. We are so lucky to have her.

“Lucy White, our dietitian at the hospital, is amazing as well. She’s easy to talk to and keeps an eye on how Phoenix is doing.

“Thanks to them, Phoenix’s development is spot on – even a little advanced.

“He’s always on the go, running here, there and everywhere.

“He is a little live-wire, a proper character. He is amazing. He’s a typical cheeky, active little boy.

“Without the screening, Phoenix could already have been affected by his condition.

“However, now we know we just need to care for him in a slightly different way.”

The scheme was coordinated in partnership with the South Yorkshire Collaboration for Leadership in Applied Health Research and Care.