Amelie Story: You can carry on or give up

Daniel and Patricia Lewi were worried about their 15-month-old daughter Amelie. She had begun crawling and babbling like any other child her age but abruptly stopped. Other than that, she had a healthy appetite and was “beautiful and absolutely perfect” to her parents. “We thought it very strange for a child not to do something once they had started, so we took her to the doctor,” says her father Daniel, now 39.

In 2011, Amelie was referred to the Lewis’ local hospital in South London on the suspicion that she had a brain tumour. Multiple tests were carried out, including one to examine the back of her eye for the presence of a cherry-red spot.

Then, two weeks later, a bombshell was dropped on the Lewis: Amelie had Tay-Sachs, a rare and progressive neurodegenerative disease affecting just one in every 320,000 people. Caused by the lack of an enzyme that enables the clearance of waste in the brain, Tay-Sachs is exceptionally cruel in that it gradually destroys the nervous system and kills the individual. Although there are juvenile and adult variants of the disease, most cases occur from infancy and patients die in childhood. There is currently no cure.

“We were in our late 20s, in shock, thinking, ‘what am I being told?’” Daniel recalls. “You have no idea what the future will be, you’re told your daughter will end up completely reliant on you for 24-hour care, lose all ability to function independently, and she’s probably going to die by the age of five. And you can’t do anything to stop it. What makes it even harder is that the child is just sitting there, looking at you and smiling.”

The family went through a hellish time for weeks and then decided to get to work. “It’s really sad, but Patricia and I said we could either bury our heads in the sand and let it be awful for however long it was going to be until Amelie dies, after which it was always going to be awful anyway. Or we could try and do something positive,” Daniel says.

Amelie Lewi with her siblings Seth (now 4) and Grace (now 8) [Photo courtesy of Daniel Lewi]
Through a professor in Cambridge who specialised in research on Tay-Sachs, the Lewis started reaching out to other families affected by the disease. They hoped to share stories and experiences, provide support to one another, and look together at patient data that could be compiled and used to kick off clinical studies, which might, in turn, drive the development of potential treatments.

Four months after Amelie’s diagnosis, the Lewis set up the Cure and Action for Tay-Sachs Foundation (CATS), aimed at supporting patients and families affected by Tay-Sachs and Sandhoff disease, another ailment that is clinically almost indistinguishable from Tay-Sachs.

The encroaching awareness that any treatment they worked on would never be ready in time for Amelie was distressing. “We got the structure into place, spoke to contacts in pharma … You set up a charity thinking you’re going to save your child, and then you realise you can’t,” Daniel says. “You can either carry on or give up, but for us, it was never just about Amelie. It was about the community and all these other families.”

The stories of the Lewi family and several others are testaments to a movement of people making extraordinary strides in shaping medical approaches to rare diseases.

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