UPF3B Syndrome: Peterborough man among just 50 people in the country diagnosed with rare condition

A mum of a disabled son has spoken of the challenges of bringing up her disabled son after he was diagnosed with an incredibly rare condition – and praised the incredible carers who look after him.

Spencer Raby is now 24, and was born with a range of serious conditions, including Corpus Callosum, which means the part of his brain that sends out messages was not properly formed.

The Peterborough Telegraph reported on Spencer’s journey when he was a youngster, as he attended the Phoenix School in Peterborough.

Since then he has been diagnosed with other conditions, including Gilbert Syndrome, affecting his liver, and recently a genetic condition known as UPF3B syndrome, believed to only affect around 50 people in the country.

Mum Liza Raby, who runs the Spencer hair salon in Peterborough and LH Hair Design based in Bourne, said: “It has been a really difficult time for a lot of families in our position.

"Spencer left school in 2018, but there was five years preparation work before then. The school had an options event, explaining what was available about 10 years ago now. You have to be prepared and I wanted everything in place – you do not know what is round the corner.

Liza looked at a range of options, including Spencer staying living at home – but eventually found a care home, near Lincoln, who could look after him.

Liza said: “Getting funding in place was difficult and a stressful process. It is not easy, but the Home From Home Care team have been fantastic.”

Spencer was diagnosed with UPF3B Syndrome in the last couple of years, following a lengthy study with Great Ormond Street Hospital.

It is believed only around 50 people have been diagnosed with it in the country, and Liza said: “I am a carrier of it, and if I have a boy, it means they have a 50 per cent chance of getting the condition. It causes severe development delay, and can lead to other conditions, including autism and ADHD, which Spencer has.”

Liza said moving Spencer to the home was ‘the hardest thing’ she had ever had to do.

She said: “The best thing to do was to drop him off at the centre, and not go and visit for six weeks, so he could get used to the home.

"It was horrible. He wanted to get in the car, but I had to do it for Spencer’s sake. It was one of the hardest things I have ever done.”

In recent years Liza has also had to deal with sorting power of attorney for Spencer.

Liza faced extra challenges during the COVID lockdowns, a her hair salons were forced to temporarily close.

She said: “We were only able to carry on because of the Government funding.

"I went and volunteered at Home From Home’s head office, sorting out food deliveries and packages.

"But I was not able to see him for three months. We were able to Facetime, but it was difficult, as he could get distracted.

"The team at Home from Home have been excellent. He lives with five others, and he is the life and soul of the house – he is constantly on the go.

"His life is so fulfilled.”

Throughout Spencer’s life, Liza has also raised money for charities, organising a number of spectacular balls.

She said: “It all started in 2000, when we raised about £14,000 – and since then we have raised more than £150,000. People have helped from across the country.

“We are raising money at the moment for Circles Network, who assist disabled and disadvantaged people in their home and local community, Say Hello, who give day care provision providing sensory facilities, arts and crafts and links to local dance, drama and leisure facilities for Home from Home and Caverstede Nursery, who support children who need extra support with speech to children who have complex and profound needs.

"We are now looking at our next ball, which will take place in April next year.”