A mum has today spoken of her fears for the future as any fall could potentially kill her son.
Joshua Bramman was just a day old when he was diagnosed with the severe genetic condition Haemophilia A.
The inherited condition affects the blood’s ability to clot, meaning any fall could cause severe blooding and potentially kill him. Mum-of-two Kay Mutch, 43, gave up her job as a nurse to take care of Joshua, now 13, and his sister Lauren, 11, at their Inverurie home.
A number of incidents throughout the youngster’s life have seen him admitted to hospital, including an occasion when he was on life support when he was just six.
Haemophilia A can range from mild to severe with Joshua suffering from a severe case of the condition. Haemophiliacs have low levels of a protein in the blood that controls bleeding, called Factor VIII, and this makes them prone to bruising, heavy and internal bleeding.
How frequently a person bleeds and the severity of those bleeds depends on how much Factor VIII is in the plasma. People with severe haemophilia A experience bleeding following an injury and may have frequent bleeding episodes, often into their joints and muscles.
There is no cure, though prophylaxis injections, which add a synthetic version of Factor VIII into the blood, are offered as a treatment.
Kay said it was “incredibly hard” raising Joshua with the condition. She added: “Most toddlers are forever falling over and having little knocks and bumps. I had to make sure everything was safer than safe.
“He wasn’t free to explore and I could never take my eyes off him.
“I do worry about what his future holds. I think about what would happen if he goes to a university that is not near me.
“If he moves to England and has a knock or a bleed and no one knows what to do and the hospital doesn’t know him, I could be 300 miles away.”
Joshua, who is due to start at Inverurie Academy after the summer, has been in and out of hospital his whole life including five separate operations to install a portacath under his arm.
This tiny device is placed under the skin during surgery and makes it easier to give him the injections he needs to help his blood clot properly.
However, Joshua ended up on life support after getting an infection via the device when he was six.
Kay said: “He was in hospital for three months in intensive care. He developed septicaemia and septic shock so we are very lucky he’s still here.
“We thought we were going to lose him. Fortunately, we have come a long way since then and Joshua is doing well. There have been a lot of obstacles along the way.”
The family has been helped by the Haempohillia Society to deal with Joshua’s condition.
So far, to repay the charity for all their help, they raised more than £5,000 by taking part in the Boxing Day Dip in the North Sea in Aberdeen.
Kay said: “They run a lot of youth camps and these have been a lifeline for Joshua.
“It makes them realise they are not on their own, that there are other children out there like them.
“He may not speak to me about his condition or how he is feeling, but he might open up to people he has met there. It’s the one place Joshua can talk to other kids like him.
“At school he’s the odd one out but at these events he is made one of the crew. It gives him a chance to be a normal child.”
The family is also going to be taking part in Jeans for Genes day next month.
Jeans for Genes Day raises money for Genetic Disorders UK, the charity that aims to change the world for children with genetic disorders.
Funds raised will go to the vital care and support they need.
Jeans for Genes Day can be held from September 16-20 and invites everyone to wear their jeans to work or school and make a donation.
Sign up for your free fundraising pack at:www.jeansforgenesday.org