20yrs old woman with one in five million rare genetic disorder looks like a CHILD (Details, pics)

A 20-year-old woman has a rare genetic disease that means she is regularly mistaken for a child.

Michelle Kish, from Illinois, was born was Hallermann-Streiff syndrome, a condition so rare that at the time of her birth there were only 250 known cases worldwide.

Symptoms include distinct round, child-like facial features and a form of dwarfism that means Miss Kish only comes up to just above her sister's waist.

She requires round-the-clock medical care through the night, has a dedicated nurse to travel with her to school, and has to make frequent visits to hospital. Despite the constant medical attention she receives, she has flourished into one of the 'happiest' girls who aspires to be a paediatric doctor.

She now dreams of following in her sister Sarah’s footsteps and finding a boyfriend - ideally a long-haired man who is in touch with his emotions.'

Do people assume that I am lot younger than I am? I think they do when they ask my age but they never say it,' Miss Kish said. Her mother Mary, who is also her primary caregiver, said: 'When I was pregnant with Michelle everything was normal.'

There was no issue at all through the pregnancy or through the delivery. It was very normal.

'Doctors immediately realised something was wrong with Miss Kish, but her condition was so rare that they had to draft in a geneticist from another hospital. The specialist was able to diagnose Miss Kish from having seen pictures in medical textbooks.

Mrs Kish said: 'No one had ever seen it in person at Children's Memorial Hospital, where Michelle was born.' When the doctor gave us the diagnosis of Hallermann-Streiff syndrome my heart sank.

'I was worried how are we going to care for our child who had a rare genetic disorder that was one in five million.

'It was unknown what her prognosis was going to be. They couldn't tell us because they had never seen it before and it was devastating.'

Miss Kish added: 'I do have to go into the hospital a lot. I can't count how many times but a lot. It's like a second home to me, basically.'

No comments