Genetic study reveals North Tyneside girl had been misdiagnosed with life-limiting illness

  • Video report by Gregg Easteal.


A genetic study has revealed that a girl from North Tyneside had been misdiagnosed with a life-limiting illness.

5-year-old Addison Black was born with a brain condition which doctors at first said it would ultimately cut her life short. 

The Wallsend girl was first thought to have Joubert syndrome, a brain development disorder - a condition that would make her life extremely hard, with symptoms including mobility problems, failing eyesight and kidney problems.

Experts at Newcastle University have given her family hope after diagnosing her with Poretti-Boltshauser syndrome (PBS), which is rarer and milder.

The team had embarked on a huge scale genetic study that made a six billion to one breakthrough.

It was a shock to Addison’s parents Carlie and Stewart that their daughter’s diagnosis was changed following genetic screening.

Mother-of-two Carli, 34, a former nurse, said: “When we were given the initial diagnosis of Joubert syndrome it was heartbreaking as it’s a life-limiting illness and that was always in the back of our minds. 

"But to then be told after genetic screening that Addison had a different condition it came as a bolt out of the blue as we didn’t expect it and we had never heard of Poretti-Boltshauser syndrome. 

"To be given this diagnosis means that we can speak to the few other families in a similar situation and learn from one another’s experiences, which is so important in our understanding of Addison’s complex needs.” 


Her family is one of four across the UK who have had a diagnosis changed from Joubert to PBS, following an expert review of symptoms, brain scans and genetic sequencing.

Professor John Sayer, Deputy Dean of Clinical Medicine at Newcastle University, said: “It is important because it allows patients with rare brain disorders a much better chance of a correct clinical and genetic diagnosis. 

"This will help many families in the UK to get more precise information about their child’s condition and know in much clearer terms what the future will hold.”