Kim Coney, is mum to Tom (26) who has MPS VI (Maroteaux-Lamy), a mucopolysaccharide disease where a build-up of sugar molecules in the body can lead to several issues, including stunted growth, problems with heart, muscle function, and valves, eyes and narrowing of the airways.
Tom received his MPS VI diagnosis when he was just 5 years old. His mother describes that time in their lives as a ‘grieving process’. “I experienced so many emotions,” remembers Kim, “from denial, to feeling numb, then being upset, feeling angry and finally thinking I must be strong for Tom”.
Kim’s husband, Neil contacted the MPS Society upon receiving their son’s diagnosis and they’ve received support ever since.
"A year after Tom’s diagnosis we went to an MPS Society conference in Paris. It was a comfort to meet other families in our situation and that led to other events like going to Disneyland in America twice with the MPS Society.”
“It wasn’t an easy journey,” recalls Kim. “At the time, no treatment was available, and we were told by doctors at the local hospital that Tom would only live to the age of 20. Tom started having weekly infusions of Naglazyme when he was 10 years old, under specialised care in Manchester for the first six months and then at home. A year after Tom’s diagnosis we went to an MPS Society conference in Paris. It was a comfort to meet other families in our situation and that led to other events like going to Disneyland in America twice with the MPS Society.”
Tom has reduced stature and corneal clouding due to his condition but is very active and independent and goes out biking regularly with his friends.
“Tom used to get glue ear a lot when he was younger and had to get grommets,” remembers Kim. “He suffers from joint pain, especially in his knees, but Tom’s incredible - he pushes through the pain and rides his bike for miles and walks a lot too. He regularly goes out, by himself or with friends, and family. This independence is invaluable for him as he can’t work, and it gives me time out and makes me happy to see him out enjoying himself.”
But Tom’s independence was taken away from him during lockdown when his vision started to deteriorate whilst waiting for a corneal transplant to his right eye and he couldn’t get the help he needed from his doctors and consultants. Tom’s eyesight continued to worsen and he couldn’t get out on his bike rides. This combined with other worries he had caused Tom to become depressed.
“It was an awful time,’ remembers Kim. “He couldn’t sleep, he was having rapid breathing which concerned me because he has short airways anyway with his condition. I was trying but not getting anywhere with doctors.
"I contacted Sally, a Support Officer at the MPS Society, and she wrote a letter on Tom’s behalf to the hospital. Soon after that he was taken in for an operation on one eye. That turned things around for Tom, as he was able to go out again."
“As well as this I was being met with a brick wall when I rang about his pre-assessment for his eye operation,” says Kim. “It lasted for months. I contacted Sally, a Support Officer at the MPS Society, and she wrote a letter on Tom’s behalf to the hospital. Soon after that he was taken in for an operation on one eye. That turned things around for Tom, as he was able to go out again. Tom’s depression and him not being able to go out alone affected my mental health too. I kept telling myself to be strong but it was hard. Sally referred me to Rareminds, a counselling and wellbeing service. It was a very difficult time and the counselling helped a lot. Because of it, I’m better at setting boundaries and looking after myself.
“The MPS Society has been like another family for us. We always know they're there if we need them. They help out with so much, whether it’s emotional support like the counselling or financial support like form filling, they'll do their best to help, it's just amazing.”
This year we would like to raise £25,000 to help fund the Support and Advocacy Team so that Sally and the rest of the team at MPS Society can provide invaluable support to people like Kim and Tom. We want to make sure our support team is there when people need them the most.
If you want to help, all you need to do is make a donation between 12 midday on Tuesday 29 November and 12 midday on Tuesday 6 December. During this time, donations will be matched pound-for-pound at no extra cost to you meaning your donation will be worth twice as much to us and the people we support.
Just visit www.mpssociety.org.uk/biggive between those dates to donate online.
