Genetic study reveals girl from North Tyneside wrongly diagnosed with deadly disease


A genetic study found that a girl from North Tyneside was wrongly diagnosed with a fatal disease.

Addison Black, 5, was born with a brain disease that doctors first said would ultimately cut her life off.

Wallsend’s daughter was initially thought to suffer from Joubert Syndrome, a developmental disorder of the brain – an illness that is said to make her life extremely difficult, with symptoms such as problems with mobility, poor vision and problems. kidney.

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

The team had embarked on a large-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 altered following genetic testing.

Mother of two, Carli, 34, a former nurse, said: “When we were first diagnosed with Joubert syndrome, it was heartbreaking because it is a life-limiting disease and it was still in the process. back of our minds.

“But to then be told after genetic testing that Addison had a different disease, it came like love at first sight because we weren’t expecting it and had never heard of Poretti-Boltshauser syndrome.

“Receiving this diagnosis means we can talk to the few other families in a similar situation and learn from the experiences of others, which is so important in our understanding of Addison’s complex needs.”

His family is one of four people in the UK whose diagnosis has changed from Joubert to PBS, following an expert examination for symptoms, brain scans and gene sequencing.

Professor John Sayer, Associate Dean of Clinical Medicine at Newcastle University, said: “This is important because it gives patients with rare brain disorders a much better chance of getting a clinical diagnosis and correct genetics.

“It will help many families in the UK to get more accurate information about their child’s condition and to know in much clearer terms what the future holds for them.”

Recent studies from Newcastle University:

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