‘Longest-living Benjamin Button disease sufferer’, 28, who spent his life trying to find a cure for rare condition dies
THE world’s longest-living survivor of ‘Benjamin Button disease’ who spent his life searching for a cure has died.
Sammy Basso, aged just 28, was diagnosed with the rare genetic disease progeria.
The condition, nicknamed ‘Benjamin Button disease’ after the film The Curious Case of Benjamin Button starring Brad Pitt, causes sufferers to age rapidly and appear older than they are.
People with progeria generally appear healthy at birth, but symptoms such as slowed growth, loss of fat tissue, and hair loss begin to appear in their first year.
The average life expectancy for an individual with progeria is about 15 years.
Sammy, from the northern Italian region of Veneto, is believed to be the longest-living survivor of the rare genetic disease.
He was diagnosed with the disease aged just over two years old and founded the Italian Progeria Sammy Basso Association with the help of his parents aged 10.
He dedicated his life to raising awareness about the disease, appearing in the the National Geographic documentary “Sammy’s Journey”.
He even wrote his graduate thesis on the possibility of curing progeria through genetic engineering.
Sammy was having dinner with family and friends on the evening of October 5 when he suddenly felt unwell.
Emergency medics were dispatched to the restaurant and tried to resuscitate the young biologist, but their efforts were in vain.
Just a few weeks before his death in Asolo, north-eastern Italy, he had returned from a trip to China.
And the evening before his passing, he was awarded the Paolo Rizzi Journalism Prize in the “Environment and Society” category in Venice.
The organisers cited “his willpower, spirit of sacrifice, and the courage that sustains him”.
Sammy was born in Thiene on 1 December 1995 and lived in Tezze sul Brenta.
In 2005, he founded the Italian Progeria Association to spread knowledge about his condition and to encourage research into it.
He graduated from the University of Padua with a degree in Natural Sciences in 2018.
In 2019, he was made a Knight of the Order of Merit of the Italian Republic by President Sergio Mattarella.
He graduated again from the University of Padua in 2021 with a master’s degree in Molecular Biology.
What is progeria?
Hutchinson-Gilford Progeria is a very rare genetic disease that affects one in every 8 million people born.
It’s caused by a mutation in one of the two copies of the LMNA gene.
The mutation causes every cell in the body to malfunction.
People with progeria undergo rapid ageing and have distinct physical characteristics, including:
- Hair loss
- Prominent eyes
- Aged, wrinkled skin
- A thin, beaked nose
- Disproportionately small face compared to head size
- Loss of fat under the skin
There are currently only 130 cases of progeria recognised worldwide, of which four in Italy.
However, this number is underestimated as cases of progeria are often difficult to trace.
Progeria is always fatal.
On average, people with the condition survive 14.5 years, although some adults with progeria will live into their early 20s.
A drug called lonafarnib has been shown to slow down the progression of the disease.
Source: Italian Progeria Sammy Basso Association, Cleveland Clinic
His thesis explored the correlation between progeria and inflammation.
His dream was to work at CERN in Geneva, Switzerland.
Progeria is not hereditary and is instead caused by a mutation in the LMNA gene.
The mutation likely occurs in a single sperm or egg immediately before conception.
There are about 70 children with the disorder worldwide, most of whom will die from heart problems or strokes.
Basso is survived by his parents, who said: “We are deeply grateful for the privilege of having shared part of our journey with him.
“He taught all of us that, even though life’s obstacles may sometimes seem insurmountable, it’s worth living it fully.”