Tom (26) was diagnosed with MPS VI Maroteaux-Lamy when he was 5 years old. His condition causes a build-up of sugar molecules in the body causing stunted growth, problems with his heart, muscle function, and valves, narrowing of his airways, as well as corneal clouding in his eyes that if left untreated can cause blindness.
Tom has to have weekly infusions of enzyme replacement therapy. The regular treatment wasn’t easy as a child but he says it has become part of his life.
"I try to stay positive and I have a supportive family and mostly I go about my day not letting my condition affect me."
“Sometimes it's hard to be spontaneous” says Tom, “because I have to be available every week for treatment. I can’t go away without contacting a nurse. My mum makes up the infusion, but a medical professional has to cannulate to deliver it. The biggest impact of my condition is my social anxiety but I try to stay positive and I have a supportive family and mostly I go about my day not letting my condition affect me.”
Tom’s eyes have been impacted greatly due to his condition, especially recently during lockdown when he wasn’t able to get the operation he needed and his vison deteriorated so badly he wasn’t able to leave the house without someone with him.
"My deteriorating vision before my recent eye surgery took away my ability to keep as fit as possible and I became depressed and anxious."
“Having MPS affects me physically and mentally,” says Tom. “I get aches and pains, mainly in the winter or if I haven’t done any exercise that day. The biggest impact is to my vision. I am fortunate to be able to walk and bike good distances. My deteriorating vision before my recent eye surgery took away my ability to keep as fit as possible and I became depressed and anxious.
Sally from the MPS Society wrote a letter to the hospital and I got an appointment to get surgery on one eye.
“My mum was pushing for the corneal surgery I needed, but nothing was happening. Finally Sally from the MPS Society wrote a letter to the hospital and I got an appointment to get surgery on one eye. I am still waiting for an operation on my other eye. It took a while for the eye to settle, but I slowly got my confidence back to go out on my bike again and go for walks.
If it wasn’t for the MPS Society, I would find it quite a lonely place. I don’t have to explain myself like I do to people who don’t know about my condition.
“The MPS Society, in particular Sally helps me with various things, such as my PIP assessment and pushing for my corneal transplant. If it wasn’t for the MPS Society, I would find it quite a lonely place. I don’t have to explain myself like I do to people who don’t know about my condition. Sally supported me through my depression that was increasing because I wasn’t getting out and my independence was lost. The depression turned to anxiety after the surgery because of a build-up of pre and post-surgery nerves. Sally referred me to the MPS Society’s Rareminds counselling service. It helped a lot to have someone listen to me and understand what I was going through. She also liaised with local mental health professionals to get help in place for me, including attending meetings and providing information about my condition.
“Getting the emotional and practical support from the MPS Society makes me feel less alone. It’s just good to know they are always there,” says Tom.
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 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.