Fighting to find a cure

Jul 7 2008 by Chris Robinson, The Journal

THE family of a little girl who suffers from a rare genetic disorder has launched a fundraising campaign in a bid to find a cure for her condition.

Toddler Emily Kate Jackson is playful and adventurous, but just weeks ago she was airlifted to intensive care battling through a two hour epileptic seizure.

The two-year-old has the condition tuberous sclerosis complex and has three tuber-shaped lesions on her brain caused by a gene alteration.

Fortunately the youngster pulled through and her family has now launched a funding campaign in a bid to find a cure and also raise awareness.

Mother Sarah, 27, a community midwife based in North Tyneside, said she had never before come across the condition, which affects one in 6,000 people.

Her daughter was diagnosed last year after abnormalities were discovered and an MRI scan revealed three non-malignant growths on her brain.

The youngster takes two tablets daily to control her epilepsy and sees specialists at Newcastle General Hospital and the Centre For Life.

Mrs Jackson, of Ashkirk, Dudley, Cramlington, Northumberland, said: “Although it’s not common, it’s not uncommon, but it can be so mild people often don’t know they have it.

“It can affect development, but she has a mild form of it. So far it hasn’t grown so that’s good news, but we have to have another scan later this year.

“We are not sure how it will develop, it can affect your kidneys, too, so it all depends on when she gets older.”

The youngster was shopping with her grandmother Irene Hassanyeh, 59, when she became ill and was taken to hospital last month.

She was put on a ventilator and airlifted to Newcastle General Hospital where she underwent life-saving treatment in its intensive care unit.

Mrs Jackson, married to Owen, 36, who has another daughter Alice, six, added: “Because it’s a spectrum disorder it can go from being mild to severe. We know that there are people much worse than Emily Kate but it’s all about spotting it early because the symptoms are not always there and that’s why we want to raise awareness.

“At the moment there’s not a cure but scientists are closing in on it. If we can do anything to help then that’s all that matters.” The toddler’s parents are currently on a genetic testing programme involving Newcastle University researchers at the Centre For Life.

Emily Kate’s aunt Alishar Taylor has arranged a family fun day to raise cash at Sacred Heart Church in Gosforth, Newcastle, on August 30 from 1pm.

Money raised with go to the Tuberous Sclerosis Association, the UK charity that supports sufferers and conducts research.

Anyone who can help or donate can contact musicalmonkeys@yahoo.co.uk  or 07950 544332.