“My name is Susan and I live in Bridgend with my two sons, Tyler, 16 and Marshall who is 13.

“Tyler is your typical teenager but life has worked out rather differently for his little brother.

“Marshall was born full term after a normal delivery. I was 21 years old. It wasn’t until he was six months old and in hospital with being treated for pneumonia that there was a question mark over his health.

“I’d gone home to have a shower and grab some clean clothes and while I was away a nurse had bathed him – and had noticed he had curvature in lower back. She suggested a doctor should check Marshall out.

“The doctor held a pen in front of Marshall’s eyes and his eyes didn’t follow the pen.

“That doctor must have known what he was looking for because he sent off for tests straight away.

“Two weeks later we got a notification that Marshall had Sanfilippo Syndrome and that he would develop normally until he was about five years old, then he would start to regress. Eventually he would lose all his abilities and suffer from seizures and dementia. I was told then and there that Marshall probably wouldn’t live out his teenage years.

“Although I heard the doctor say this to me, I don’t think I accepted it for a while.

“In the event, Marshall never did talk and was never out of nappies. When he was little he would charge about the house like a bull with his head down. I didn’t get any help from the boys’ father (we were still together at that point). Now my boys barely see him at all.

“After the first few weeks after Marshall’s diagnosis, I started to cry a lot and then I tried to bury it. I had to. Because otherwise you’d be crying continuously.

“You just have to take every day at a time.

“It was easier when Marshall was a baby. He’s quite a big boy and tall for his age. Now he’s a teenager he’s not able to walk at all and is nearly completely tube fed. I’ve started to hoist him in the house as he has become too heavy to pick up. He never did talk, as such, but he did used to say a few words. Now he isn’t able to say anything anymore.

“I’d just split up with their father when my mother contacted Tŷ Hafan for outreach support. Marshall was two years old then. We started to use Tŷ Hafan for respite when he was five.

“Marshall always loves it at Tŷ Hafan. He is always happy in the hospice. He loves the people. He loves the change in environment. He enjoys activities now, but he does fall asleep a lot. He tires out quite quickly. He loves the women though – he is a typical teenager!

“Tyler doesn’t talk about Marshall and what he is going through a lot. He doesn’t open up. I know it must affect him. He used to be part of Tŷ Hafan’s sibling group, but I don’t think it’s cool for him to do that anymore. I think he does open up to his friends though.

“Tŷ Hafan is like a lifeline to us. We’ve had a few crisis visits – times when Marshall has been awake for days on end. Then he will just scream constantly. When he goes to Tŷ Hafan, both Marshall and I can have a break and I know that he is being well looked after.

“I’m not sure how I will deal when the time comes that we lose Marshall. I can’t imagine my life without him now. He is with me all the time. He is like an extra limb.

“I always imagined that if Marshall didn’t have this condition – he would be a tearaway teenager. He used to be quite comical. He’d have been trouble but he would have been funny with it.

“Marshall’s loss of mobility and the loss of his ability to eat has come on really fast, since this July really. I’d always been told by specialists that it would be really gradual, but it’s not the case for Marshall. He always used to love his food. He’d do anything to get food. Now he can’t swallow. Even blended food he chokes and splutters. That’s so sad because he so enjoyed his food.

“He also goes through some nights where he just doesn’t sleep at all. Me and my fiancé are exhausted. It’s easier during term time we can catch up on sleep, but much more difficult when it was the summer. We just had to try to get some rest when Marshall was resting – most of the time, I would just go around like a zombie.

“Marshall’s prognosis is that he’s probably not survive his teenage years.

“I’m part of a group of parents with Sanfilippo children and there are some cases where children grow up and make it well into their 20s. So hopefully Marshall will be one of the luckier ones who’s going to live a longer time than what is predicted. All you can do is hope.

“There have been quite a few times when I have felt I can’t cope any more – it’s all too much. So then I phone Tŷ Hafan and they get Marshall in as quickly as possible.

“Tŷ Hafan is a fantastic place that provides children with life-shortening conditions, somewhere to enjoy their time.

“It also provides families with a lot of support – they may crumble without it.”