Toddler diagnosed with dementia at the age of three loses ability to walk

Florence Swaffield was able to walk, and ran down the aisle with the rings at her parent’s wedding in September 2021 (Picture: SWNS)

A little girl has lost the ability to walk and speak after she was diagnosed with a rare form of a dementia that begins in childhood.

Florence Swaffield had been able to walk, and even ran down the aisle with the rings as the flower girl at her parent’s wedding in September 2021.

But just months later her condition had declined, to the degree she was falling over up to 100 times a day.

In addition, she lost some of her communication skills and is now only able to say ‘uh oh’, her parents said.

Mum and dad Phoebe and Joe want to raise awareness of her rare genetic condition, and are also hoping to raise enough money for their daughter to have pioneering gene therapy which might help her.

She has been diagnosed with CLN2 Batten’s disease, which currently has no cure. Those who have it have a life expectancy of between six and 12 years, meaning without medical developments Florence is unlikely to reach her teenage years.

As the disease develops, it will see her revert to a baby-like state as she loses the ability to communicate, walk and eat or drink independently.

The family on their wedding day in Spain

The family on their wedding day in Spain (Picture: Pheobe Swaffield/SWNS)

Despite the prognosis, Florence’s mum says her little girl is a cheeky, funny character who is ‘full of life’ and has ‘the most infectious belly laugh’, and she says she’s determined to do ‘whatever it takes’ to give her ‘the best life possible’.

Pheobe, a government worker for the Department for Transport from Coventry, West Midlands, said: ‘The video of Florence running down the aisle and giving he rings to Joe is just priceless to us.

‘In a way, we are thankful that we were oblivious to Florence’s condition as we were able to make such special memories together that we will cherish for the rest of our lives.’

Her parents feared that Phoebe may have a medical condition from an early age, as she was refusing to eat or drink and started sleeping for up to 22 hours a day as a baby.

But doctors reassured them that things were okay, to the point they decided to move back to England from Spain in the hope of getting better treatment.

In January 2020 the family arrived back in the UK and were referred to a dysphagia specialist, dietitian and speech and language therapist and underwent a series of studies and tests to discover the cause of Florence’s symptoms.

Phoebe says that they finally found out what was wrong when they were allocated a special educational needs and disability key worked called Jill Leonard, who suggested genetic testing.

Mum Pheobe, 28, and dad Joe, 31, with Florence, three

Mum Phoebe, 28, and dad Joe, 31, with Florence, three (Picture: SWNS)

The results showed that both her parents were carriers of CLN2 Batten disease, and had passed it to Florence unknowingly.

Her disease is so rare that it only affects up to 50 people in the UK.

But Florence also has another rare genetic complication, as tests showed she also has Ververi-Brady Syndrome, a condition characterised by mild developmental and speech delay. This was confirmed as a spontaneous mutation.

Florence is thought to be the only person in the world with these two mutations occurring simultaneously.

She was born in a Spanish hospital in October 2018 while her parents were living abroad in the coastal town of El Masnou, having relocated for work.

Her parents suspected something was wrong immediately, as she would make hacking noises, slept for 22 hours a day and refused to eat.

When Phoebe managed to encourage her to feed, she would projectile vomit even within an hour of feeding.

On several occasions, Florence was even hospitalised due to dehydration after she refused to eat, causing Phoebe to have a ‘mental breakdown’ on the floor of the hospital when they dismissed her concerns.

She said: ‘I started to ask the professionals: “Are you going to wait for her to die until you believe me?”‘

Dad Joe with Florence on his wedding day

Dad Joe with Florence on his wedding day (Picture: SWNS)

Between the ages of nine and 12 months, Florence wasn’t keeping up with the other children her age who were more cognitively able, as she wasn’t clapping or making babbling sounds.

Phoebe said: ‘We were trying to make the doctors understand that Florence was not like other children her age, but I just felt really unheard and out of control.’

After they moved back to the UK, doctors still believed her condition could be autism or developmental delay.

Florence was eventually correctly diagnosed after a series of extreme seizures which started in August 2021 where Florence would jerk uncontrollably and zone out for approximately 30 seconds.

‘I just didn’t know life could be so cruel, and I didn’t think it could happen to our family,’ Phoebe said.

As part of her treatment, Florence receives an enzyme infusion every two weeks at Great Ormond Street Hospital, London, which she will have to undergo for the rest of her life.

Phoebe and Joe, who is a partner manager at a technology company, are desperately hoping that gene therapy will become available to improve their daughter’s prognosis, but the treatment is only in the research phases in the US as clinical trials are yet to be approved by the Food and Drug Administration (FDA).

They have set up a GoFundMe page to give Florence a chance of having private treatment, and to adapt their home.

Phoebe said: ‘We are saving every penny for a potential treatment or for technology. Anything left over will go to the Batten Disease Family Association and other charities supporting families with Batten disease.’

The family are also preparing to make alterations to their home as Florence continues to lose motor skills in the years ahead.

Phoebe said: ‘We’ll need wet rooms, ramps and everything to be downstairs.

‘There’s pioneering technology coming out all the time and we want to be able to give Florence the best quality of life we can.’

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