Mum left 'helpless' after baby son diagnosed with rare life-limiting disease

STV News

2 days ago

An Aberdeen mum has called for more support to be made available for those with rare conditions after her son was born with a life-limiting disease.
On August 30 last year, Bobbie Hardingham and Callum Booth welcomed Tommy Booth into the world.
He was born four weeks prematurely and kept in Aberdeen Royal Infirmary's neonatal unit due to his low body temperature.
After undergoing numerous tests, medical teams were unable to identify the issue.
Less than one month after welcoming their boy into the world, the couple returned to the hospital as Tommy was having difficulty breathing and his body temperature dropped to 28C.
Tommy was airlifted to Edinburgh for treatment and further tests and scans. Doctors still had difficulty identifying the route of the youngster's problem. STV News Tommy Booth was diagnosed with Menkes disease.
Finally, a genetic test was carried out, which revealed that Tommy had an adrenal deficiency affecting his kidneys.
The family believed Tommy would be on steroids for the rest of his life however on April 2, the couple were told it was 'not good news' by doctors.
Tommy was diagnosed with Menkes disease, a rare, inherited X-linked recessive disorder that affects copper metabolism.
Symptoms include kinky and sparse hair, hypothermia, developmental delays, and seizures.
According to the National Organization for Rare Disorders, the condition affects one in 35,000 live male births. A majority of children born with Menkes disease do not live past the age of three.
Bobbie says she felt 'helpless' after being told her son had an incurable condition.
The mum told STV News: 'I just broke down, I couldn't believe it.
'I didn't understand it fully at the time. When the doctors said there was nothing they could do, you just felt helpless and felt you'd done something wrong. STV News Tommy Booth received the diagnosis following a genetic test.
'But of course, we haven't done anything wrong, this just happened. There aren't any words to describe how you feel at that time. You just feel numb.
'There were no leaflets about support, it just felt isolating.'
The family believe the ordeal their nine-month-old son is facing has completely shifted their perspective on life.
Bobbie added: 'There were things I'd moan about in the morning that I wouldn't complain about anymore.
'When you get hit with something like that, it changes you. To be honest, I don't know how we are coping.
'Our family and friends have been encouraging us and supporting us. If we didn't have them around us, I don't know how we'd continue.'
Tommy's condition has deteriorated over time, meaning he is unable to sit up, grab things or smile. He has also started to have seizures, and his parents believed at one point, he would no longer be able to eat.
The 36-year-old mum hopes sharing her son's story will help other families across the country notice the signs of the condition.
Bobbie also believes that more help should be made available for those living or caring for someone with a rare condition.
Bobbie said: 'We want to raise awareness of this awful disease.
'We need to make Tommy as happy as we can. As a family, we can make as many memories and show Tommy as much love as we can.
'We need to make sure that Tommy is as comfortable as possible. For children with rare conditions, there isn't that support. STV News Tommy's mum believes more should be done to support those with rare conditions.
'There's hundreds and thousands of children with conditions that don't have the support they need.'
The Scottish Government says it remains 'committed' to raising awareness of rare conditions and ensuring support is available.
A Scottish Government spokesperson said: 'We are very sorry to hear about this family's experience, and our thoughts are with them as they navigate the challenges of this extremely rare and life-limiting condition.
'We recognise that living with a rare condition can have a significant impact not only on the individual but also on their families and carers.
'That is why we are committed to improving care and support through our Rare Disease Action Plan for Scotland, which focuses on faster diagnosis, better coordination of care, increased awareness among healthcare professionals, and improved access to specialist services.'
A fundraiser has been set up to support Tommy's medical needs.
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