Mother-of-one, 33, diagnosed with the same rare brain disease as one of her parents and grandfather

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Rachel Potter, 33, has been diagnosed with an extremely rare form of dementia which has changed her personality and is damaging her memory and ability to walk


A woman has been struck down by the same extremely rare brain disease as her mother and grandfather.

Rachel Potter, from Chesterfield in Derbyshire, is now thought to be one of the youngest people in the UK to have dementia.

She was diagnosed with the inherited and devastating Gerstmann-Sträussler-Scheinker disease, which is thought to only affect a few families in the world.

Ms Potter, a former childcare nurse who used to be ‘bubbly and sociable’, now cannot write, work or drive and needs help getting into the bath and cooking.

Mother to eight-year-old Brooke, Ms Potter may have passed on the debilitating disease but the family will not know until Brooke is 18.

Ms Potter’s father, Kev Potter, is sharing the family’s story as he tries to raise money to take his family to Disneyland before his daughter becomes too disabled.

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Rachel Potter, 33, has been diagnosed with an extremely rare form of dementia which has changed her personality and is damaging her memory and ability to walk

Rachel Potter, 33, has been diagnosed with an extremely rare form of dementia which has changed her personality and is damaging her memory and ability to walk

Ms Potter was first diagnosed with Gerstmann-Sträussler-Scheinker disease (GSS) when she was 31 in 2016.

She had been driving home from visiting her father and suddenly realised she could no longer read road signs or understand her satellite navigation, and got lost.

Mr Potter, 61, whose daughter phoned her scared and confused, said: ‘We phoned her for hours and she didn’t pick up.

‘Eventually she picked up and said she was in a pub in Wakefield.

‘She was very upset and said she hadn’t been able to read the signs on the motorway or follow the directions on the satnav and she didn’t know where she was.

‘From that point, we got in touch with a GP.’

A doctor referred Ms Potter to Sheffield Hospital and then University College Hospital in London.

‘It’s a ticking time bomb in our family’ 

She was then given the devastating diagnosis – the family had already seen her grandfather die of the disease and her mother, June, is living with the disease and needs round-the-clock care.

Mr Potter, who is divorced from his daughter’s mother, said: ‘It’s a ticking time bomb in our family.

‘It’s absolutely heartbreaking – we were devastated when we found out, and we can see the change in her.

Ms Potter, pictured with eight-year-old daughter Brooke, has inherited the condition after it affected both her mother and grandfather

Ms Potter, pictured with eight-year-old daughter Brooke, has inherited the condition after it affected both her mother and grandfather

Ms Potter, pictured with eight-year-old daughter Brooke, has inherited the condition after it affected both her mother and grandfather

Ms Potter's father, Kev Potter, has watched his daughter's life devastated by the disease and says the condition is 'a ticking time bomb' in their family

Ms Potter's father, Kev Potter, has watched his daughter's life devastated by the disease and says the condition is 'a ticking time bomb' in their family

Ms Potter’s father, Kev Potter, has watched his daughter’s life devastated by the disease and says the condition is ‘a ticking time bomb’ in their family

‘She’s not the same person she was. She was a bubbly, outgoing girl with a massive circle of friends who loved working and socialising. She travelled all over the world.

WHAT IS GERSTMANN-STRAUSSLER-SCHEINKER DISEASE?

Gerstmann-Straussler-Scheinker disease (also known as GSS) is an extremely rare disease of the brain and nervous system.

The disease is inherited in almost all cases, and is thought to only affect a small number of families around the world.

People usually begin to show symptoms when they are between 35 and 55 years old.

They can include dementia-like effects such as memory and thinking problems, difficulty walking and physical weakness, and speech problems. 

The disease cannot be cured and usually causes disability and death between two and 10 years after diagnosis – the average life expectancy of a GSS patient is five years.

It is not known exactly what causes the disease but it is linked to a mutation in a protein in the brain.

There is a 50% chance of a parent passing GSS onto a child. 

Sources: National Institute of Neurological Disorders and Stroke and National Center for Advancing Translational Sciences

‘Now, she can’t work or drive anymore.

‘She’s deteriorated rapidly, her mobility is decreasing all the time as well as her cognitive skills.

‘She can’t write properly anymore or cook. She has trouble with directions and finding her way.

‘As time goes on her relationship with Brooke will be affected as the condition gets worse.’

Needs carers every day to carry out basic tasks

Ms Potter relies on visits from carers twice a day to carry out daily tasks.

GSS is a degenerative brain disease which affects the nervous system and gradually inhibits coordination, speech and muscle control.

It is eventually fatal and the average life expectancy of people with the disease is five years, though patients can live as long as 10. 

Disease is thought to only affect a few families worldwide

People who develop GSS have almost always inherited it, and it is only found in a few families around the world, according to the National Institute of Neurological Disorders and Stroke.

While the condition is not a common or well-known form of dementia, the term is used to refer to various diseases which cause the brain to degenerate. 

Mr Potter, a former UK Border Force official, said: ‘Being able to walk any distance now is quite for painful for Rachel and her handwriting has been reduced to a child’s scrawl.’  

‘Her world now is a few close friends, her family and her carers.’

Ms Potter may have passed on the gene for the rare disease to her daughter, Brooke (pictured right), but she won't be tested until she is 18

Ms Potter may have passed on the gene for the rare disease to her daughter, Brooke (pictured right), but she won't be tested until she is 18

Ms Potter may have passed on the gene for the rare disease to her daughter, Brooke (pictured right), but she won’t be tested until she is 18

Mr Potter, pictured with his daughter and grand-daughter, first realised something was wrong when Ms Potter got lost while driving home and couldn't read road signs or follow her satnav

Mr Potter, pictured with his daughter and grand-daughter, first realised something was wrong when Ms Potter got lost while driving home and couldn't read road signs or follow her satnav

Mr Potter, pictured with his daughter and grand-daughter, first realised something was wrong when Ms Potter got lost while driving home and couldn’t read road signs or follow her satnav

Ms Potter must visit a doctor every six to eight weeks for tests to track the progress of her incurable condition. 

‘Rachel’s doctors compare her test results to previous tests to see if she’s got any worse,’ said Mr Potter.

‘They’ve been brilliant.

‘The condition is so fluid, it’s like a wave. We have good days and bad days.

Took two hours to find her after she got lost on holiday 

‘We took her on a holiday recently and Rachel said she was walking to a shop which we could see directly in front of where we were staying.

‘Half-an-hour went by and we didn’t see her. We were starting to get worried so I ended up calling security who eventually found her after two hours.  

‘She was very upset. Rachel walked past the caravan after getting lost.

‘There have been a few other instances when I’ve taken her out and parked close by to wherever we’re going and she’s come out, looked at the car with me sat in it and walked away, completely lost.

‘She’s started shuffling quite a bit so it’s becoming more difficult for her to walk.’

Ms Potter, pictured as a toddler with her father, now relies on daily help to carry out basic tasks like bathing and cooking, and struggles to walk or write properly

Ms Potter, pictured as a toddler with her father, now relies on daily help to carry out basic tasks like bathing and cooking, and struggles to walk or write properly

Ms Potter, pictured as a toddler with her father, now relies on daily help to carry out basic tasks like bathing and cooking, and struggles to walk or write properly

Ms Potter (pictured with her father) used to be bubbly, sociable and love travelling, Mr Potter said, but now she cannot work or drive and her condition is deteriorating

Ms Potter (pictured with her father) used to be bubbly, sociable and love travelling, Mr Potter said, but now she cannot work or drive and her condition is deteriorating

Ms Potter (pictured with her father) used to be bubbly, sociable and love travelling, Mr Potter said, but now she cannot work or drive and her condition is deteriorating

Mr Potter is now raising money to take his daughter and grand-daughter to Disneyland to create happy memories before her disabilities become too severe

Mr Potter is now raising money to take his daughter and grand-daughter to Disneyland to create happy memories before her disabilities become too severe

Mr Potter is now raising money to take his daughter and grand-daughter to Disneyland to create happy memories before her disabilities become too severe

Eight-year-old daughter has shown ‘maturity and strength’ 

Mr Potter said eight-year-old Brooke has shown strength beyond her years in coping with her mum’s condition.

He said: ‘She has coped admirably and shown remarkable maturity for someone so young. 

‘She can see what’s happening to her mum but I don’t know if she knows the full extent.

‘Obviously she gets upset when her mum forgets things.

‘It’s horrifying to see my daughter regress as she has done.

‘When I retired I wasn’t expecting to do this, but I wouldn’t have it any other way.

‘Rachel is so loved and we all just want the best for our little girl.’

Mr Potter is now raising money via GoFundMe to take his for his daughter and granddaughter to Disneyland before Ms Potter becomes too disabled.



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