Mum wants research into daughter's rare condition

Michelle Parkinson from Rushden says there's not enough known about her daughter's rare genetic condition, Ring 18.

14 year old Samantha Parkinson is just one of 23 people in the whole of Europe to suffer from the extremely rare chromosome disorder Ring 18. She has the mental age of a 2 year old, suffers from chronic heart disease, incontinence, vision problems, spinal and feet problems and has severe learning and behavioural disabilities.

The list of Samantha's related illnesses is likely to keep on growing but doctor's aren't able to predict them as so little is known about the condition.

Samantha's mum Michelle wants to raise enough money to fund a new research centre at Addenbrookes Hospital in Cambridge, where Samantha was diagnosed, so she can help other parent's whose children have Ring 18. She said:

"Even if we get part of a research centre, somebody's looking into it, so people can prepare themselves. Because we weren't prepared. I mean we had this beautiful little girl, that seemed perfect in everyway and then everything just got thrown at us, there was a new illness every day."

"It's been a real uphill struggle but if we do lose her through surgery or anything else I'll still keep going because there's other people out there who need to know. There's other people out there going through the same thing we are."

Michelle has also set up her own charity 'Children with chromosome ring 18' and works alongside the geneticists at Addenbrookes to offer support and information to other parent's whose children suffer from the condition.

 

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