He can die from playing with snow
A 6-year-old boy suffers from a rare genetic mutation syndrome, which causes him to die when playing outdoors in the winter.
Uzair Akhtar, living with her parents in Bradford (England), was found to have a mutation of HIES (Hyperimmunoglobin E Syndrome) mutation two years ago. Doctors say Uzair will not be able to survive this age without a bone marrow transplant.
Uzair suffers from HIES syndrome, which can cause him to die when playing with snow.
HIES syndrome reduces the body's ability to resist the disease, causing the patient to die from infection with the simplest diseases such as flu or chickenpox. There are about 50 people in the world with this syndrome.
To make sure Uzair is not in danger in the winter months, Uzair's parents have to warm him up before going to school and do not risk the boy playing outdoors.
'The area we live in has a lot of snow recently and we feel very heartbroken because we can't let our son go out to play. Uzair loves to make snowmen and throw snowballs. But just playing outside for about 10 minutes, our son can be life-threatening , "said Sufia Rashid, Uzair's mother.
Uzair was born with quite weak health and suffered from flu and illness later. However, doctors only found him with HIES syndrome after he was poisoned by salmonella at the age of 4. This syndrome caused by the mutated DOCK8 gene.
To strengthen resistance for Uzair, the boy's mother was trained to regularly inject antibiotics through a small tube implanted near Uzair's heart. However, this measure only works in the short term. Doctors say Uzair needs a bone marrow transplant to completely treat this syndrome.
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