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Fighting to find a cure; Family launches campaign to raise funds.



Byline: Chris Robinson

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 Noun 1. epileptic seizure - convulsions accompanied by impaired consciousness
convulsion - violent uncontrollable contractions of muscles

generalized seizure, grand mal, epilepsia major - a seizure during which the patient becomes unconscious and has
.

The two- year-old has the condition tuberous sclerosis tuberous sclerosis
n.
An inherited disease characterized by hamartomas of the brain, retina, and viscera, as well as epileptic seizures, mental retardation, and skin nodules of the face. Also called Bourneville's disease.
 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 North Tyneside is a metropolitan borough of Tyne and Wear in the North East of England. Its seat is at the Town Hall, Wallsend.

Created in 1974, the borough lies within the historic county boundaries of Northumberland.
, 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 1. (application) MRI - Magnetic Resonance Imaging.
2. MRI - Measurement Requirements and Interface.
 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 Don't know (DK, DKed)

"Don't know the trade." A Street expression used whenever one party lacks knowledge of a trade or receives conflicting instructions from the other party.
 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 A spectrum disorder in psychiatry is hard to define precisely but is a mental disorder having something to do with a spectrum of subtypes or closely related disorders. The spectrum model is proposed as a more coherent way of understanding psychiatric symptomatology.  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 Genetic Testing Definition

A genetic test examines the genetic information contained inside a person's cells, called DNA, to determine if that person has or will develop a certain disease or could pass a disease to his or her offspring.
 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 The Sacred Heart Church may mean:
  • Sacred Heart Church (Manama, Bahrain)
  • Sacred Heart Church, Copenhagen, Denmark
  • Sacred Heart Church (Eau Claire, Wisconsin), USA
  • Sacred Heart Church (Zeigler, Illinois), USA
  • Sacred Heart Church (Saratoga, California), USA
 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.

We know that there are people much worse than Emily Kate but it's all about spotting it early.

GENETIC LINK

TUBEROUS sclerosis complex (TSC TSC Thestreet.com (stock symbol)
TSC Time Stamp Counter
TSC Tuberous Sclerosis Complex
TSC Tractor Supply Company
TSC Terrorist Screening Center (Department of Homeland Security) 
) is a genetic condition caused by a gene alteration.

People with TSC have growths, sometimes called tubers or lesions, in different organs of the body.

They may have epilepsy, learning disabilities, autistic spectrum disorder and kidney problems.

Symptoms vary from mild to severe and there are people who remain undiagnosed.

It is thought to affect around one in 6,000 new births and there are around 8,000 affected people nationally.

One-third of people with TSC inherit it from a parent who also has tuberous sclerosis but in two-thirds of people neither parent shows any symptoms.

Tests include skin screening under ultra violet light to look for white patches, a brain scan (CT or MRI) to check for growths and an EEG EEG: see electroencephalography.  (brain wave recording) to check for epilepsy.

About 50% of people with TSC are intellectually unimpaired Adj. 1. unimpaired - not damaged or diminished in any respect; "his speech remained unimpaired"
undamaged - not harmed or spoiled; sound

uninjured - not injured physically or mentally
 and lead normal lives, with the remainder having learning disabilities to a greater or lesser extent. The prognosis for patients with TSC is very good and life expectancy Life Expectancy

1. The age until which a person is expected to live.

2. The remaining number of years an individual is expected to live, based on IRS issued life expectancy tables.
 is normal.

However there is no cure. Treatment for a number of its symptoms is available.

For more information visit www.tuberous-sclerosis.org

CAPTION(S):

CAMPAIGN LAUNCH Emily Kate Jackson, two, who suffers from a rare genetic disorder called tuberous sclerosis, with her mum Sarah. Picture: Simon Hobson www.journallive.co.uk/buyaphoto ref: 01123240
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Publication:The Journal (Newcastle, England)
Date:Jul 7, 2008
Words:705
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