Siblings Inherit Rare Disease That Prevents Deep Sleep: What You Need To Know About Fatal Familial Insomnia
Getting a good night's sleep is extremely vital. Research has even shown that sleeping for 6 hours or less is just as bad for the health as no sleep at all.
But imagine having sleeplessness embedded in your genes - something that siblings from Queensland, Australia have inherited from their relatives. This rare genetic disease could eventually kill them both.
The Story Of Lachlan And Hayley Webb
Brother and sister Lachlan and Hayley Webb suffer from fatal familial insomnia (FFI), a rare hereditary disease that prevents them from achieving deep sleep.
Lachlan, 28, and Hayley, 30, first became aware of the disease when their grandmother became ill years ago.
From then on, their whole family has had a history of FFI: their mother passed away from FFI at age 61; their aunt died at age 42; their mother's brother passed away at the young age of 20.
Hayley, a reporter for Nine News, recalls being aware that their family had this "curse" during her teenage years.
"My grandma started getting sick and dying," says Hayley. Her grandmother's eyesight deteriorated, and she exhibited signs of dementia. She was also hallucinating and could not talk properly, Hayley says.
Hayley says her grandmother was eventually spotted with FFI, the first time that the family stumbled upon the rare disease.
It happened to their mother, too. Hayley remembers leaving for work one day on the Sunshine Coast and her mother telling her, "Have a great day. I'm so proud of you." Later that week, when she came back, her mother began calling her Jillian and thought she was the housekeeper.
Hayley says the disorder is incredibly aggressive, and that because of it, the body is not allowing the person to rejuvenate at all.
"It's like being awake for the last six months of your life," says Hayley.
What You Need To Know About Fatal Familial Insomnia
Hayley, Lachlan and their relatives are part of the less than 10 million people in the world suffering from FFI. Unfortunately, there is still no cure or known treatment for the illness.
FFI is an extremely devastating disease as it causes quick physical and mental deterioration. The disease damages nerve cells, resulting in sponge-like holes in the thalamus, the region of the brain that regulates sleep.
The Queensland siblings have opted to participate in a pioneering study conducted by the University of California, San Francisco (UCSF).
UCSF researchers led by Sonia Vallabah and Eric Minikel are trying to find a cure for the rare genetic disorder, which they say is a type of a prion disease. This means that it could either be genetic, acquired or sporadic.
What's more, there are only 28 known families in the world, including the Webbs, with the dominant gene responsible for FFI. By the rules of genetics, having one parent with the gene gives the offspring a 50 percent chance of inheriting and developing the ailment.
According to UCSF researchers, FFI has four stages:
1. progressive insomnia
2. panic, hallucinations, sweating, agitation
3. total insomnia
4. dementia, and eventually, sudden death, which comes 7 to 73 months after symptoms start
With the UCSF study, experts hope to further understand the workings of the ailment and find a cure or an effective treatment as soon as possible.