Isabella's story Tay-Sachs disease - Jeans for Genes

Isabella's story

Five-year-old Isabella was born with the rare and fatal genetic disorder Tay-Sachs disease. Most children with the condition die between three and five years of age; Isabella was diagnosed aged two. Isabella is immobile and fed through a gastronomy tube. She also has seizures and is visually impaired.

At 18 months old Isabella could walk holding on to her parents’ fingertips for support and seemed well on the way to walking on her own. But over the next few weeks she began to lose her skills, regressing in her mobility and speech.

Two months before Isabella’s second birthday, Deborah took her to the GP to discuss the family’s worries. They were eventually referred to a paediatrician who informed them that in the 30 minutes they had been talking, Isabella had experienced 10 ‘absence seizures’. They had no idea what he meant. ‘We thought she was just daydreaming.’

Further tests and investigations failed to shed any more light on what was wrong. But one night, searching on the internet for answers, Deborah came across a description of Tay-Sachs disease. ‘Everything about it matched what was going on with Isabella.’

On 15 March 2011, tests came back positive for Tay-Sachs, a disease caused by a genetic mutation in the HEXA gene. It stops the body producing a particular enzyme, meaning fatty substances start damaging the nerve system. Symptoms commonly begin around the age of six months with development regression, loss of vision and hearing, muscle weakness and seizures.

Isabella lost the ability to swallow in August 2011, five months after her diagnosis. She had a gastronomy tube fitted to feed her. She lost the use of her legs to bear weight and lost the use of her hands. She has to be moved and lifted into positions. Both her hips are dislocated.

Isabella attends a special needs school two mornings a week. In addition she has music therapy, sensory support, portage and has sensory equipment to use at home, such as a vibrating acoustic (pillows) bed and fibre-optic lights.

The family has lots of trips away, including seeing the Harlequins and Saracens rugby teams play at Wembley, and driving to Italy for a week’s holiday.
The greatest risk to Isabella’s health is an infection, such as pneumonia. She was in hospital with an infection for her fifth birthday and doctors didn’t think she would pull through. Amazingly she did.

Today she has Botox injections to control her saliva secretions, Deborah does physio with her daily at home and she is on anti-epileptic medication for her seizures. She sleeps in a hospital grade bed with one parent by her side so that if she coughs in the night they can suction her to keep her airways open.

‘We had a family photo shoot done on Mother’s Day when she was three. Shortly after she lost the ability to smile. So at least we have those photos to remember her smile … we don’t know how long she has so we celebrate every quarter birthday.’