A slow, sad farewell
Developing an extremely rare, fatal illnessBEN HEATHER
Violet Stephen used to laugh and smile. Now she waits as she slowly loses control of her body. The 21-month-old Stokes Valley baby is believed to be the only New Zealander with the rare degenerative disease infantile Tay-Sachs.
There is no cure and children affected are unlikely to survive past their fifth birthday.
At home, propped on her father David Stephen's knee, Violet can barely move. Her arms and legs rest limply, her only sound an occasional whimper responding to her father's voice.
The rare disease is a particularly cruel one, with the baby developing normally until about six months before gradually losing the ability to move, speak or see.
"She used to roll over and laugh. She doesn't do that any more," David said.
David and his wife, Grace, first started noticing something was wrong when Violet was about seven months old. A close friend had a daughter of a similar age and Violet started to obviously lag behind in development.
At her nine-month checkup, they were told she was just progressing slowly but the parents remained sure "something wasn't quite right".
They took her back to the doctor and, just after Violet's first birthday, were told she had an incurable, fatal disease.
"There was just disbelief. I hadn't heard of the disease before the diagnosis. I didn't even know they were testing for it."
Violet's speech and movement have slowly deteriorated since. About six months ago, she was in hospital for more than a week after contracting a cold.
"She went downhill quite quickly after that. She has only laughed once or twice since."
Today, Violet can still hear and, her father believes, hasn't lost her mental ability. But her movement and sight have gone almost completely. She cannot swallow and is fed through a tube in her stomach.
The family have had help from friends and relatives who fundraised for a special bean-bag chair which can keep Violet upright, a difficult task when her limbs are limp.
A cousin is also running a Givealittle campaign to raise money for a new car that can fit the enormous chair.
David said they tried to take Violet out as much as they could, to the park or the beach, cramming her short life with new experiences.
"We are trying to get a lifetime of memories into the few short years that she has."
David was reluctant to talk about the future. While there were some promising developments on a potential cure, he said none would come soon enough for Violet.
"We just take every day as it comes and spend as much time with her as we can."
WHAT IS TAY-SACHS?
The rare condition is a genetic disorder caused by the absence of an important enzyme that helps protect cells from damage.
Without the enzyme, a fatty residue can build up on cells, eventually becoming toxic. It is particularly damaging to the brain and spinal cord, leading to paralysis, blindness, vision and hearing loss and brain damage.
Symptoms of infantile Tay-Sachs usually arise around six months of age. The child is unlikely to survive past early childhood.
Tay-Sachs is very rare, with a one-in-four chance of arising if both parents have the same recessive gene. About one in 250 people have the gene.
There are two other variants of Tay-Sachs, one that arises in later childhood and one in adulthood.
- The Dominion Post
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