'I want my son in his home as his health declines'

Ten years ago, Sarah Saul noticed her son William was not hitting the usual developmental milestones for a child his age.

Just before his fourth birthday, he was diagnosed with autism, but years later the family from Ipswich noticed his speech was beginning to disappear and his behaviour was difficult to manage.

In 2022, doctors told Sarah and her husband Gareth that William had MPS III A Sanfilippo, which is a life-limiting condition so rare only 83 babies were born with it in the UK between 2010 and 2020.

Fourteen-year-old William has now lost his speech, has a form of childhood dementia and will eventually lose his mobility. His parents are trying to raise enough money to adapt their home to ensure William does not have to go into care and the family can remain living together.

When the Sauls welcomed their daughter about two years and eight months after William, they began to notice their son was facing developmental challenges.

Sarah, 45, says doctors did reassure them he was fine and would catch up with other children his age, but she suspected he might have autism.

It was still "quite a shock" when he was diagnosed with autism, but also "a bit of a relief".

As his childhood progressed, William struggled with sleep, started to lose verbal communication and his behaviours changed, Sarah says.

Believing there was something else potentially at play, the family sought help again from doctors who suggested William have a genome sequence test to see if there was a hidden disability.

"It took a very long time for the results to come back and we got a phone call saying, your child has got this condition... I got off the phone and I didn't even understand the words that this very lovely lady was saying to me.

"I had a quick Google and researched, and just balled my eyes out."

MPS III A Sanfilippo is life-limiting and there is no current cure, according to the MPS Society.

Sarah describes the situation as "daunting and overwhelming", but she says the family do their best to "carry on".

"I did not for one moment think it would be something that was life limiting.

"That's not something that entered my head because he's so happy, healthy, he's very energetic, very jumpy."

Sarah describes her son as having the "loveliest smile" with a "cheeky laugh", and an excellent older brother to their daughter Amelia.

"He is really happy. If anyone comes to the house, he likes to get them to come and sit with him on the sofa, then he'll pop his leg over the top of them.

"He's really good at puzzle, he's a phenomenal little puzzler."

William has now lost his speech and Sarah says he is also living with childhood dementia.

As his condition progresses, he will lose mobility and need a wheelchair.

With these complex care needs it might be necessary for William to later live in a care facility, however the family want to remain together.

Sarah says William is familiar with his home, which could be helpful with his dementia, and the family has a strong support network nearby.

To ensure William can remain living with the family, they need to adapt their home to install a lift, ramp, wider doors and a wet room.

The family is eligible for some grants, but they are not enough to cover all of William's needs. So they set up a fundraiser last month to help with raising £60,000 they need for the works.

"This is so that William can actually stay with us for the entirety of his life, which is what we want," Sarah continues.

"We don't want him going anywhere else."

Bethanie Pentecost, head of support at the charity MPS society which supports families affected by rare genetic conditions, said these children often experience complex and progressive physical, neurological and behavioural challenges, meaning their homes must be adapted to meet changing and highly specialised needs.

"We regularly see families facing significant emotional and financial pressure as they try to secure the support required.

"Although statutory funding routes exist, the reality is that systems can move too slowly and frequently do not cover the full cost of essential adaptations. Families are therefore often left navigating complicated processes while also trying to raise large sums of money themselves to ensure their child's needs are met safely and appropriately.

"For parents already managing the daily realities of a life-limiting condition, these additional challenges can be overwhelming. Timely, adequate support is crucial to reduce stress on families and to ensure children living with rare conditions can have the best possible quality of life," she says.

The fundraiser has seen more than £5,000 raised so far, which Sarah says has been "overwhelming" to see.

She says people and businesses the family do not know have offered to hold their own fundraising events, and her niece held a school bake sale and raised £130.

"It's been lovely, all the lovely messages we've received from people.

"It's really heart warming. It melts my heart how kind everybody has been."

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