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Aurora magazine

Two sisters aged 6 and 10 developed Niemann-Pick disease type C

Doctors discovered symptoms of senile dementia in two 6 and 10-year-old English girls. The first case occurred in 2000, but the parents only made it public recently.

Emily and Sarah Bushaway have developed Type C Niemann-Pick Disease. This is a rare genetic disease, often known as infantile Alzheimer's. Afflicts only 100 people around the world, is deadly and unmanaged. Those who suffer from it progressively lose muscle tone and develop lung diseases. It is also characterized by the gradual decline of intellectual functions, which results in dementia.

The first diagnosis was touched by Emily, who at the time was only six years old. The little girl had begun to repeat and was struggling to remember the names of the girlfriends. The doctors initially spoke of distraction of attention. After some time, the neurologists of the Great Ormond Street Hospital in London had given a much worse response.

After seven years, doctors diagnosed the same illness as Sarah's sister, 10 years old. Both girls lost motor, language and cognitive functions. Parents Mark and Lisa have devoted soul and body to their two daughters, promoting campaigns for research.

Emily died in 2016 at age 21 in a nursing home in Oxford after an error in intubation procedures. Sarah's sister is 19 years old and still a few years old.
Bushaway spouses are both carriers of the recessive gene of the disease. Promote initiatives to raise public awareness. Hope is that research will move forward both for prenatal diagnosis and for the treatment of this disease.