Researchers at Bologna discovered the condition is the result of a deformed brain protein called a prion, much like Creutzfeldt-Jakob disease and bovine spongiform encephalopathy (better known as mad cow disease). The particular prion associated with FFI affects an area of the brain called the thalamus, which is responsible for managing the sleep-wake cycle and is involved in other important brain activities, such as balance, memory, speech, personality, emotions, and general interbrain communication.
The mutation causes the neurons in the thalamus to break down and it is this lack of neurons that triggers the symptoms of FFI.
It is also what stops the body from being able to achieve sleep mode. In a healthy person, the blood pressure drops just before falling asleep, but in someone with FFI, it does not. Instead, the body remains on high alert and is unable to reach a deep and restorative slumber.
Most people with the defected gene will start to experience symptoms between the ages of 32 and 62, but there have been incidents of it happening as young as 12 and as old as 84. It is a dominant gene mutation, which means a child whose parent has the condition has a 50 percent chance of developing it themselves.
You might now be wondering if there is a cure – sadly, there is not, but there are various treatments in the pipeline and methods that may delay symptoms. One patient, known only as Daniel, was able to postpone the more severe symptoms and death with an array of techniques, including a sensory deprivation tank that allowed him to sleep for hours at a time. Combined, the treatments were so effective at alleviating his symptoms that Daniel was able to spend his final years writing a book and traveling around the US in a motorhome.
Then there is Sonia Vallabh, who lost her mother to the condition in 2010. Finding out that she too shared the gene, Vallabh and her husband, Eric Minikel, gave up their jobs, became scientists, and embarked on a PhD at Harvard Medical School. They now study prion diseases in the Schreiber Lab at Board Institute, where their goal is to find a cure before Vallabh starts to develop symptoms herself. They keep regular updates on their progress at prionalliance.org.
The couple remains optimistic.