Touching Lives - September 2003
A day in the life: Callum's story gives hope to others
Such desperate measures were needed to give Callum, who has Hurler Syndrome, the chance to live a life that otherwise would have been denied him.
Callum is now seven. He attends school, goes to Tae Kwondo, plays football — and is something of a celebrity in his home town of Blackpool.
With his mum Carla, dad Donnie, brother Donnie junior and sister Chantelle, he has recently been on holiday to Majorca, where a stranger approached his mum.
“I know you,” she said. “You’re from Blackpool — I recognise Callum.”
Carla told Touching Lives, “It happens all the time, everyone seems to know Callum, no matter where we are. He’s a bright, cheerful little boy who will talk to anyone. Sometimes, it’s hard to believe we’ve been through so much as a family, and the hardest part is that we still don’t know what the future will bring. Callum’s condition is so rare that no-one can predict what will happen.”
Although he was a bouncing 10 pounds at birth, Callum became a sickly baby, vomiting and apparently having difficulty breathing. After several trips to the doctor and the hospital, at five months his family still didn’t know what the problem was.
“It was my mother-in-law who pushed me to make a stand and insist that we get some sort of diagnosis,” said Carla. “I didn’t know what to do but we knew that there was something very wrong and he was becoming so ill that we were desperate.
“When I was told he had Hurler Syndrome and without radical treatment probably wouldn’t live beyond nine I was devastated. We were packed into a tiny room at the hospital and I just couldn’t take it all in.
“Then other doctors in the hospital started to come and look at him because they had never seen a child with Hurler before. He was the youngest ever diagnosed and the first case diagnosed in Blackpool, but I hated the fact that he seemed to be some sort of novelty. I can understand now why people wanted to look, but at the time it was terrible.”
Carla was contacted by the MPS Society, a support group for families of Hurler children, but most of the literature she read about the condition painted a very gloomy picture.
She said, “When he was diagnosed, the consultant said he needed a bone marrow transplant quickly, even though he was only a baby. I wanted to know more about the condition, but didn’t read anything about Hurler Syndrome being treatable. We were terrified, but decided that we had to give Callum a chance.
“Without the transplant he would deteriorate mentally and physically and die. The transplant itself carried a big risk — at first he was too weak to go through it and we had to wait — but we saw it as a chance, and we took it.”
Big sister Chantelle was found to be the perfect match, and though Callum was in hospital for a year after the transplant, his life was transformed as a result.
“I started to see the Hurler symptoms being reversed,” said Carla. “He was still very prone to infection and was in and out of hospital for several years, but he’s at the stage now where he seems better able to fight off the chest complaints he used to get and I don’t worry about him quite as much as I did. We take the view now that we all have to get on with life — whatever it brings.”
But having such a sick child inevitably put a huge amount of pressure on Carla, Donnie, who works as a painter and decorator, and their older children.
Carla said, “I was living at the hospital, but the other kids and all the family were just brilliant. I had worked right up until having Callum, but I’ve never been able to go back. I decided to enrol on a computer course when he started school, but the day I started I got a phone call to say he was ill. I think I was called home five times during the course.”
Callum and his family have lost count of the operations he has had. Hurler children can suffer from curvature of the spine and a procedure to try and straighten his back has not been successful.
Callum’s spine is the worst doctors have ever seen, curving in two different directions, and his X-rays have travelled the world as his consultants try to find an expert who can help.
Carla said, “^We’re just getting on with things, and I’d like to think that other parents who have a child with Hurler Syndrome will be able to read about our experiences and see that there is a chance for them^.
“We’re not soft with Callum, we don’t treat him much differently from the other two, and I think in many ways it was good that we had two children already.
“He still has some problems. The curves in his spine mean that he walks on his toes most of the time, and he suffers bad migraines, which seem to come on when he’s excited about something.
“But we decided that we have to get on and really live our lives, even though we don’t know what the future will bring. The bone marrow transplant has undoubtedly prolonged Callum’s life, but his doctors can’t say what will happen, or when.
“Callum’s story is in the MPS literature now and that makes me feel better, because other mums and dads in our situation will be able to read that there really is hope.”
New treatments under investigation
Action Medical Research has given a grant of £105,000 to a project at the Department of Haematology, Royal Manchester Children’s Hospital, to investigate the modelling of new therapies to treat Hurler Syndrome.
Hurler Syndrome is a single gene disorder causing the deficiency of an important protein. It results in the build up of mucopolysaccharides — long chains of sugar molecules — that in most people are continuously broken down and recycled. In Hurler sufferers, these accumulate instead and can cause severe damage. Sufferers have progressive mental and physical problems and rarely live beyond the age of nine.
Dr John Grainger is leading the research into new therapies. At the moment, Hurler Syndrome can be treated with bone marrow transplants — but this is limited by the availability of donors, toxicity and the problems of rejection.
He said, “The research is investigating the use of mesenchymal stem cells (msc) administered alongside genetically modified bone marrow cells. Mesenchymal stem cells can be derived from the affected individual and are able to develop into other tissues of the body. In addition msc can dampen down the immune reaction to bone marrow cells reducing the toxicity and the possibility of rejection.
“To date we have established a protocol for isolating msc and demonstrated how they can develop into different tissues and for genetic modification. We have now moved into a transplantation model to investigate the potential to aid engraftment and establish the fate of transplanted cells.”