Hayley Webb admits her own future is ‘terrifying’ as her brother Lachlan deals with the unthinkable.
Years before his diagnosis, Lachlan Webb was aware that an incurable and untreatable hereditary condition would slowly rob him of his life. He wished he had more time as the father of a one-year-old son. He hoped to live to see his son grow up.
Instead, as the “worst-case scenario” plays out, the Brisbane man’s “They just had no explanation for it.” When the siblings’ grandmother died in similar circumstances in her 60s in 1994, it was discovered that the family carried the fatal familial insomnia (FFI) gene.
The uncommon condition is as terrifying as it sounds. Victims are unable to sleep properly.
Hayley and Lachlan’s mother died six months after being diagnosed with FFI.
“About a month at the end of that was her in a vegetative state,” Hayley said.
“The month before that was her hallucinating 24/7.”
She was in her sixties. Lachlan is only 35 years old.
His first symptoms included memory loss, dizziness, and weight loss. Hayley describes his “night wakings” as well.
Perhaps optimistically, it was hoped that those symptoms could be explained by something less sinister.
“He had a baby and was stressed out at work.” “He had events in his life that could explain these symptoms,” Hayley explained. “Night wakings are common when you have a baby.” When you are stressed at work, you may lose weight.
“We were holding on to hope that it wasn’t FFI.
“Unfortunately, we did receive the diagnosis earlier this year. He was diagnosed the day after his son’s first birthday.”
Lachlan’s decline has been “rapid” since his diagnosis in April, according to Hayley.
He uses a wheelchair because he has lost his balance and coordination, and he has memory loss.
“He feels very foggy a lot of the time,” Hayley observed.
“He’s recently been losing his ability to speak.” It’s been extremely difficult.”
However, his decline has not been as rapid as that of other family members.
“His mental symptoms have been much slower and quite different to our other relatives’ deterioration,” Hayley said.
“His resilience has astounded us all.”
“At this point, he hasn’t had any hallucinations, which is in stark contrast to our other family members.”
“We didn’t know he was triggered when he was first diagnosed in April.”
According to the National Organization for Rare Disorders (NORD), fatal familial insomnia is caused by prion protein abnormalities that become “toxic to the body.”
According to NORD, the abnormal or “misfolded” prion proteins live “primarily” in the thalamus, “a structure deep within the brain that helps to regulate many functions of the body including sleep, appetite, and body temperature.”
FFI, contrary to its name, does not prevent Lachlan from sleeping. However, it prevents him from getting the necessary sleep.
“Every night, Lachlan goes to bed.” “He still falls asleep — albeit for brief periods of time,” Hayley explained.
“The issue isn’t so much with him falling asleep as it is with him reaching the restorative stages of sleep.”
Lachlan and Hayley both had IVF to have their children in order to avoid passing FFI down.
They had known their family had FFI for most of their lives, but it wasn’t until their mother died that they decided to get tested to see if they carried the deadly genes.
They were in their twenties when they were diagnosed, allowing them to “investigate avenues not to pass the gene onto our own children,” according to Hayley.
It is unknown how much longer Lachlan will live, but his family is “hoping he can see Christmas.”
“We’re just so grateful for every extra minute, every extra hour, every extra day we have,” she said.
As a mum of a three-year-old, with a second son due in weeks, Hayley admits she lives her life in fear.