SIBLINGS who were diagnosed with a rare disease that leaves you unable to sleep are now living a nightmare as one them has been given just weeks to live.
Hayley, 37, and Lachlan Webb, 35, were diagnosed with fatal familial insomnia (FFI), a disease that has alreadyclaimed the lives of their mum, grandmother, aunt and uncle, eight years ago.
Today showHayley and Lachlan Webb were diagnosed with fatal familial insomnia eight years ago after losing their mum and grandma to it[/caption]
Today showLachlan has been given weeks to live after his symptoms began to get worse[/caption]
Today showBoth siblings brought forward their marriages so they could experience each other’s special days together[/caption]
Not known, clear with picture deskLachlan is now wheelchair bound, losing his sight, memory and ability to speak[/caption]
Passed down through families by a gene that can lie dormant until it’s “triggered”, FFI also struck down the siblings’ mum and grandmother.
Medical experts don’t know what causes the gene to suddenly take effect and there’s currently no cure for the devastating disease that can kill within weeks or months once awakened, according to the National Organisation for Rare Disorders.
It’s thought that one in three Brits will experience insomnia – difficulty getting to or staying asleep – at some point in their life.
Sleeplessness that lasts for more than three months is defined as long-term insomnia.
But that’s not be confused with FFI, which is thought to affect just 50 families worldwide.
It’s not a sleep disorder, but rather a rare genetic degenerative brain disorder caused by a gene mutation passed down through families that progressively disrupts sufferers’ ability to achieve deep sleep.
As people’s insomnia worsens, it severely impacts their ability to function daily.
They may also suffer disruption to the part of their nervous system that controls automatic body processes, such as body temperature regulation, sweating, breathing and heart rate.
It’s also caused an abnormal variant in the prion-related protein (PRNP) gene to attack the hypothalamus in the brain – this is effectively the body’s smart control coordinating centre that regulates sleep cycles, hormones, body temperature and heart rate.
Symptoms associated with the disorder include loss of motor skills, memory loss, dementia and ultimately death.
‘We’ve already lost mum, gran, aunt and uncle to the cruel disease’
Hayley and Lachlan, from Queensland, Australia lost their grandma to FFI when she was 69, as well as their mum when she was just 61.
Their aunt and two uncles also succumbed to the rare genetic disease.
Now, eight years after it was confirmed that they also had the ticking time bomb gene, Lachlan has been “triggered” just as he approaches his 36th birthday.
“While we’ve always known there was a risk of the disease ‘triggering’ at some point, never in a million nightmares did we think it would strike so early,” Hayley shared in a GoFundMe raising funds for her brother, his new wife Claire and their 18-moth-old son Morrison.
Hayley, who has not yet started experiencing symptoms, described the heartbreak of watching her brother rapidly deteriorate.
“Lachlan has been experiencing aggressive symptoms for the past six months, which have progressively been getting worse.
“He is now wheelchair-bound, experiencing loss of eyesight, physical co-ordination, confusion, memory loss and is losing his ability to speak.
“While we can’t be sure of time-frames, based on the disease’s rapid progression in our other family members; Lach has weeks, maybe months, at best.”
‘We brought forward our weddings’
Hayley shared how Lachlan brought forward his wedding to Claire, and how she herself had wed her long-term partner in order for her brother to be there on her special day.
Now the family is hoping to provide Lachlan with “the best healthcare [they] can” as his condition continues to deteriorate.
Hayley, who is currently seven months pregnant, wrote: “What should be the happiest time of their lives has fast become the most horrendously heartbreaking.”
“While there’s no amount of money that will ever ease this nightmare, by helping to alleviate some of the financial pressures it will mean we can focus on what’s important right now, which is spending quality time together as a family,” she added.
First signs of killer curse
The siblings also appeared on the Today Show to discuss the ‘terrible curse’ they share.
Lachlan described feeling “something was wrong” in the months before the disease took hold.
“My memory was getting worse and I just noticed something different. I knew maybe something had happened, so I got tested, and my fears were confirmed,” he said.
“It is what it is. You can’t run from it, you can’t hide from it, you can’t argue with it. That’s the card that I have been dealt.”
Hayley appeared visibly emotional at her brother’s plight and described the “overwhelming” knowledge that FFI would one day claim her too.
But she explained how her eldest child and unborn baby and Lachlan’s son Morrison all escaped the gene due to IVF treatment.
“The family curse stops here,” she said.