A North Lynn mother is hoping to raise awareness of the rare disease which affects her six-year-old daughter.
Ellie-Mai Bunting was diagnosed with Blau Syndrome after her mother Victoria Williamson had spotted fatty deposits around her wrists.
Blau Syndrome is a genetic condition which affects joints, eyes and skin. Arthritis is a common feature of the condition.
Ellie-Mai has to undergo fortnightly injections to control the painful condition which would prevent her from moving around.
She also has to take daily pain and anti-inflamatory drugs to help control the condition along with other medication.
Miss Williamson said: “To look at her, you would not think there is anything wrong. She looks like a normal child.
“When it is not controlled, Ellie-Mai is not very active because it is painful. When she’s at school, she would rather sit in the library and read a book rather be out playing with her friends because it hurts.
“I want other parents to know what to look out for and to get it checked out.
“There are a lot of people suffering with this in the US but not many in this country.”
Two-years-ago, Miss Williamson noticed fatty deposits around Ellie-Mai’s wrists.
After receiving advice from a relative, she took the youngster to the doctors.
They were then referred onto the Norfolk and Norwich University Hospital for further tests.
A biopsy was taken of the fatty deposits from her wrists, which were found to benign.
An ultra-sound also showed which showed her kidney, liver and spleen were enlarged, which are other symptoms of the condition.
She was also diagnosed with having juvenile arthritis at the same time.
Since then Ellie-Mai, who attends Highgate Infant School, has also been referred to King’s College Hospital in London where she underwent a liver biopsy.
Nodules on her liver were tested and could cause problems for her in the future.
Miss Williamson said: “I was shocked with the diagnosis. We would not be at the stage we are today without Dr Kate Almond from Norfolk and Norwich.
“The team has been there to support and help us.”