3-Year-Old Girl Can’t Sweat Due To Rare Genetic Condition

admin

Three year old Abi Woods suffers from a rare genetic condition that has left her without control over her body temperature and does not allow her to sweat.

The Chronicle reports:

She can get so cold in the winter that her hands turn purple, while temperatures in summer can cause her to pass out.
Mum Emma-Jane Wilkinson, 24, said: “She can’t maintain her temperature, she’s either freezing cold or boiling hot. She can’t sweat, so she has no control over how hot or cold she is.”

Abi suffers from a rare genetic disorder called phelan-mcdermid syndrome, which not only causes problems with body temperature, but also means she has no sense of danger, and struggles with her speech, mobility and development.

There are thought to be only 1,200 known cases of the condition worldwide. The diagnosis means Abi faces an uncertain future as little is known about how the disorder will develop.

Abi was born on November 13, 2011 at Wansbeck General Hospital, weighing a healthy 8lbs 15oz.

But Emma and partner Carl Woods, 26, soon became concerned about their daughter’s development.

After visits to the GP and Blyth health centre, the family were referred onto a paediatrician before eventually seeing a genetics expert at Newcastle’s Centre for Life.

The family were then given the news that their daughter was suffering from phelan-mcdermid syndrome.

Despite all her problems, Emma and Carl say their daughter, who attends Hareside Nursery School, is a happy little girl who loves giving her nine month old brother, Alfie, a lot of cuddles.

“When we first got the diagnosis, I felt like I was grieving for the life she wouldn never have,” said Emma.

“But to see her so happy and knowing there are people much worse off has helped me dig myself out of that hole.

“I could not be any prouder of my little girl. We might not know what the future holds but I know Abi will face it with a smile on her face and love in her heart.

“We just take one day at a time and try to enjoy life as much as possible, because that’s what Abi is doing. Emma hopes her daughter’s story will inspire other parents who are living with the syndrome.

“There are also a lot of children who are still undiagnosed,” added Emma.