A mother has spoken of the agony of seeing her daughter become bedbound in a care home and unable to recognise her family because of a rare genetic form of Alzheimer’s she developed in her 30s.
Rita Pepper, 61, has become the sole carer of her two grandchildren and is bringing them up while still making daily trips to see her 39-year-old daughter Carla Bramall, who requires 24-hour care.
It started in 2007 when Carla was just 30 and began showing the symptoms of Alzheimer’s. She was unable to cope with having a bank account or filling out forms and became heavily dependent on her mum.
Rita recognised the symptoms immediately as her husband Barry, Carla’s father, had died from early-onset Alzheimer’s in 1993 at the age of 43 and had exhibited the same type of behaviour.
Rita had tried to prepare herself for the probability one of her children may develop the condition after the family were informed that it was an inherited, or ‘familial’ form of Alzheimer’s disease, accounting for less than one per cent of Alzheimer’s cases.
This meant that her two children had a 50/50 chance of having the same rare faulty gene as their father, and if they had the gene, they were certain to develop the condition at around the same age.
Carla was just eight, and her brother Lee Bramall was seven, when their dad was diagnosed and just 15 and 14 when he died. Alzheimer’s has also claimed the lives of their grandfather and their uncle, while their cousin, who is also under 40, is currently in a care home.
Carla, who used to be a hairdresser before working as a jury officer at Northampton Crown Court, was formally diagnosed at the age of 36 in 2013, just as Barry had been two decades earlier.
Dad-of-one Lee, now 37, still has not found out if he possesses the family’s faulty gene, but has so far not displayed any symptoms. He has done all he can to support his mum as she brings up her 18-year-old grandson and 12-year-old granddaughter while Carla continues to deteriorate.
Rita, who lives on the same road as Lee in Rushden, Northamptonshire, said:
“Watching my own child go through this is indescribably painful, it breaks my heart. Every day after I found out about my children’s risk I would look at them and think ‘which one?’, or I’d wonder if it would be both of them.
“Carla deteriorated so quickly. She no longer even lifts her head when we’re there or makes any eye contact. She can’t walk or speak and needs to be fed with soft food.
“I visit her every day and I just hope that one day she might recognise me again, but I cry every time I come out the home. She has seizures regularly which only adds to the distress.
“My granddaughter knows her mum is ill but it’s hard for her to understand, she’s only just realising that she won’t get any better.
“My grandchildren rarely see Carla now because she is so different to how she used to be. Last time I took them to visit her they left in floods of tears. It’s in similar circumstances that Carla and Lee visited their dad. I remember when Barry died Carla was screaming ‘don’t close your eyes dad.’ Lee has been my rock through all of this, we were always a little family unit and I know seeing Carla like this has devastated him.
“I thought by now there’d be new treatments out there but there just isn’t anything available that can slow down the progression. I’m desperate for as much research as possible to go into the disease, it might be too late for Barry and Carla but I will spend the rest of my life worrying about my grandkids, and I’m not going to be around forever.”
Up until three years ago Carla was still driving, and Rita later found out her grandson had been helping her to indicate and giving her directions as she was unable to do so herself. Then one day, while Carla’s young daughter was a passenger, she crashed her car.
Though both escaped with minor cuts and bruises, it was the final straw for Rita who had been unable to get a formal diagnosis from doctors at her local hospital despite the genetic link.
Rita took Carla to the National Hospital for Neurology and Neurosurgery in London, where Barry had been diagnosed, and the family’s worst fears were confirmed.
For Lee, who works as a mechanic, what has happened to Carla seems even more shocking, as he had convinced himself that he would be the one to develop dementia and Carla would be safe.
“I don’t remember my dad getting Alzheimer’s, the diagnosis was so long drawn out. By the time there was a formal diagnosis, everyone knew what was happening.
“I’m the spitting image of my dad and for some reason I became convinced it was therefore me who would follow in his footsteps. Carla didn’t like to talk about it and said if she found out she had it she wouldn’t want to live. It became my burden to carry, and I suppose that was just our way of dealing with it.
“It’s even worse knowing she is the one who has it. When she first was showing symptoms friends would say ‘no it’s just Carla being ditzy’. But for me it was a gut-wrenching feeling knowing these were real symptoms and it was happening to Carla. I felt like I was reliving my childhood all over again.
“I see her all the time and we try to keep it normal, but my stomach has been in knots for five years as I see her fading away.”
The family has a mutation in the PSEN1 gene, which affects around 450 families worldwide and can cause symptoms to appear as early as 30 years of age.
Rita and Lee are raising money for Alzheimer’s Research UK in a bid to increase awareness of dementia and the necessity to find preventions and treatments for dementia.
To donate to the family’s fundraising page and to see a video from Rita and Lee go to www.alzheimersresearchuk.org/carla/.
Hilary Evans, Chief Executive at Alzheimer’s Research UK, said:
“We can’t thank Rita and Lee enough for sharing their family’s story to help increase awareness around early-onset dementia and to support pioneering research.
“Carla’s story is a perfect challenge to the prevailing misconception that dementia is just forgetfulness in old age. The condition is caused by brain diseases which turn lives and families upside down, and which no one currently survives.
“Alzheimer’s Research UK is leading the fightback to bring an end to the fear, harm and heartbreak of dementia through world-class research projects across the UK and beyond. Our scientists’ pioneering work is only possible because of our dedicated supporters like Rita and Lee.”
The family also attend support meetings with the Rare Dementia Support group at University College London which offers help to those with less common forms and inherited forms of dementia. Visit www.raredementiasupport.org/ for more information.
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