A mother from Rugby and her husband are set to climb the highest mountain in the Alps to raise money for the Royal Children’s Hospital in Glasgow for caring for their baby daughter who has an extremely rare disease.
Ashleigh Meek, who has family in Brownsover and King Edward Street, and her husband Scott Meek spoke of their horror when they received a phone call from the hospital to tell them their then five-day-old daughter, Tilly, has a serious disease.
Mr Meek said: “We got her home and we finally felt our life was complete.
“Then when she was five days old we felt something wasn’t quite right.
“She was very agitated and then the complete opposite, was very lethargic and we were beginning to have trouble waking her.
“It was then our world was turned upside down.
“I took a phone call from a Glasgow number, unbeknownst to me it was from the Royal Children’s Hospital in Glasgow, they asked us to bring Tilly in asap and that she has tested positive for Maple Syrup Urine Disease.
“We had both never heard of it, and naturally quickly googled it as we were packing a bag together to go the hospital. Certain words stood out from the things we were seeing online, ‘serious’, ‘coma’, ‘brain damage’, this just didn’t feel real, or fair.
“We got to the hospital where the full extent of the disease was explained to us.”
Tilly, who was born on May 9 after the couple underwent three ‘gruelling’ attempts at IVF, remained in hospital for a week.
As a result of the disease, she has to visit hospital twice a week for blood tests to ensure she does not have a metabolic crisis.
Maple Syrup Urine Disease (MSUD) is a rare but serious inherited condition which leaves sufferers unable to process certain amino acids, causing a harmful build-up of substances in blood and urine.
A characteristic symptom of the disease is the sufferer’s urine smelling sweet - hence the disease’s name.
Mr Meek said the disease is so rare Tilly is the first child in Scotland to suffer from it for seven years.
If those with the disease do not have their blood constantly monitored they can have a metabolic crisis - a serious condition caused by low blood sugar and a toxic build-up of substances in the blood.
Mr Meek said: “Having now just turned five months old, the prognosis is that Tilly has to go in for a liver transplant in the new year which will be down in London which we’ll have to spend at least two months in hospital down there with her.”
It is hoped the liver transplant will significantly lessen Tilly’s symptoms.
The couple decided to climb Mont Blanc with a small team of fellow volunteers next September after seeing a poster advertising the charity expedition in the hospital.
They will practise by climbing mountains in Scotland.
Mr Meek said: “As long as we are fit and healthy, we will do all we can to help the hospital.”
To donate, or to learn more, visit www.justgiving.com/fundraising/scott-meek
The pair, who live in Glasgow, are also keen to thank REACT Children’s Charity and the Campbell Burns Metabolic Trust for their support.