Genetic disease shatters family
When proud mother Karen Ledsham gave birth to her second child, she thought her family was now complete.
Abigail was a baby sister for their five-year-old son, Harrison, and both Karen and her husband Paul felt the luckiest parents in the world.
Little did they know that less than 18 months later their little girl would be deaf, blind and unable to feed or drink.
Just after her first birthday Abigail Ledsham was diagnosed with Sandhoff disease, a rare genetic disorder which affects only one in 250,000 children across Europe.
The illness is causing the little girl's brain to die and she will probably not live beyond the age of three.
Her parents, who live in Haydock, are still reeling from the shock of their 18-month-old suffering from this relatively unknown yet killer disease.
Karen, a nurse at Whiston Hospital, said: "When she was born she was a healthy happy little baby. She was perfect, always babbling and giggling and smiling.
"This disease is taking every skill she has away. Now she just stares into space, she can't see, she can't hear, she is fed through a tube and she has regular fits.
"It still won't sink in - we still feel like its happening to another family."
They noticed that at the age of six months Abigail would struggle to sit up by herself and that she had difficulty sleeping and Karen was finding it hard to cope.
After a series of tests, brain scans and research into the genetic history of both their families, this hidden disease was uncovered.
Karen said: "My husband's cousin lost his child to Sandhoff disease. We realised that we were carriers of this gene and then we started to read into it.
"All the symptoms were there: she would get startled by the smallest of things, she cried a lot, she couldn't sleep, her progress was getting slower and slower.
"Tests confirmed it just after her first birthday, last October. Our world came crashing down, we were in bits."
The family have received support from various charities, so much so they were able to take her to Spain in January.
But a week into the holiday, Abigail had her first seizure and, after the family caught the first plane back home, she was hospitalised for three weeks.
Karen, 35, of Liverpool Road, said: "We have tried to explain to Harrison that Abigail will die soon but it is really hard. We said that Abigail was broken and that unfortunately the doctors would not be able to fix her."
Inherited disorder which is a killer
Sandhoff Disease is a rare genetic disorder which results in the deterioration of the central nervous system.
It stems from a recessive gene which means both parents have to be carrying the disease to pass it on to their children.
It is caused by the lack of a certain enzyme, meaning the body cannot break fats down properly.
Signs of the disease do not show until the baby is six months old.
These include:
Muscle weakness;
Startled reaction to sound;
Early blindness;
Mental and physical deterioration;
Seizures.
The prognosis for Sandhoff Disease is poor and sufferers tend to die before the age of three.
There are no specific cures for the illness and doctors rely on
treatments which make the child's life as comfortable as possible.
The deterioration of the baby usually occurs around the nine-month mark. Lethargy becomes a daily battle and their body becomes weaker and weaker.
When the baby reaches their first birthday, their smiles and giggles will start to disappear. Their eyes might start to wander, and the disease starts to break down brain function.
At 15 months, most children will have lost the all ability to sit, grab or hold things and they can no longer hold their head up.
Three months later they will start to experience seizures and they will need to have medication to control them. After a short while they will have lost all their basic abilities and they usually die from respiratory failure or infection.
For more information visit www.sandhoffdisease.webs.com and there are various organisations able to give support and advice.
Ronald MacDonald House, Claire House Hospice and the Reach charity are just some of the ones available.
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Thursday 02 September 2010
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