Mum opens up on moment she was told baby boy may only have months to live

Daily Record

5 days ago

Little Tommy Booth has been diagnosed with Menkes disease.
A devastated mum has told of the moment her baby was given months to live.
Mum Bobbie Hardingham, 36, and dad Callum Booth, 31 from Aberdeen, were left heartbroken when their nine-month old son Tommy was diagnosed with Menkes disease at Aberdeen Royal Infirmary on April 2.
The rare and life-limiting genetic condition affects copper absorption in the body stopping the normal development of nerves and the brain. Babies face severe neurological symptoms and a drastically shortened life expectancy - usually between six months to three years.
Bobbie said: "We were told he had Menkes disease. I was absolutely shocked. We had never heard of it so we didn't know what it meant at first.
"When they explained that his life was limited we were devastated. It was heartbreaking to know that he may not live past an early infant."
Tommy's health issues started early on, with subtle but worrying signs.
"When he was first born, he struggled with feeding and had a really low temperature," Bobbie said. "They just put it down to suspected sepsis and sent us home, but he kept getting worse.
"We took him back in and his temperature was down to 28 degrees. He began struggling with his breathing and we were airlifted to Royal Hospital for Children and Young People in Edinburgh on September 26 for tests and scans. Still, no one could figure it out."
Doctors began to run genetic tests in the background in a search for answers before the family received a life-changing call.
Bobbie explained: "We were told to come into Aberdeen Royal Infirmary. One of the genetic doctors noticed his hair, took pictures, and tested it. That's when it came back positive for Menkes."
With no cure, the couple were initially told there was little that could be done. But Bobbie refused to accept defeat.
She continued: "At first the NHS told us that with Menkes disease they would only recommend copper injections if it was diagnosed within the first 28 days because that is when it is most effective. Due to Tommy getting diagnosed at eight months, they said we were outwith the guidelines.
"I couldn't sit back as a mum and accept that. I did my own research and reached out to other parents whose child where diagnosed late with Menkes. They all recommended copper injections.
"I fought and fought with the NHS until they submitted a referral, and we finally got them approved. He started them last week."
The injections aren't a cure, but they may help control Tommy's frequent seizures and give him a better quality of life.
The couple are now exploring cutting-edge treatments abroad, including gene therapy being trialled in the US and Germany.
She added: "We've been in touch with specialists. If there's a breakthrough, we want to be ready to travel at a moment's notice. That's why we have started a fundraiser.
"The money we raise will help with that, and also to keep him comfortable."
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They've launched a GoFundMe titled "Help Us Give Tommy the Best Life Possible", and the response has moved them.
Bobbie said: "The support from family, friends and complete strangers has been absolutely amazing.
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"I thought because it's such a rare disease, it wouldn't reach many people but it has. Hopefully by sharing Tommy's story we can raise awareness too."
Their fundraiser will help cover essential care, make special family memories, and when the time comes, if there is no breakthrough, help them give their little boy the send-off he deserves.
She finished: "When the time comes for his funeral, although we don't like to talk about it, we want to give him a big send-off with a lovely headstone.
"Some days we are just absolutely devastated, but we're trying to give him the best life. We don't have days to spare."
To support the family, visit their GoFundMe page - https://gofund.me/4ff3749f.
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