‘You can carry on or give up’: Families living with rare diseases

What happens when your child is diagnosed with a disease so rare that few doctors understand it?

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.