Michelle Kish, from Illinois, US, was born with Hallermann-Streiff syndrome – a condition so rare that at the time of her birth that there were only 250 known cases worldwide.
Symptoms include distinct round, childlike facial features and a form of dwarfism that means Michelle only comes up to just above her sister’s waist.
She said: “Do people assume that I’m a lot younger than I am? I think they do when they ask my age but they never say it.”
Doctors realised something with wrong with Michelle, but her disease was so rare that they had to bring in a geneticist from another hospital, who was able to diagnose her after seeing pictures in medical textbooks.
Michelle’s mum 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.
“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.”
Michelle requires round-the-clock medical care through the night and has a dedicated nurse to travel with her to school. She has to make frequent trips to the hospital to get a check-up.
She 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.”
In total, Michelle has 26 of the 28 symptoms of Hallermann-Streiff syndrome, including craniofacial abnormalities, a small beak-like nose, a recessed chin, bilateral cataracts and frontal bossing of the forehead.
She also has a number of secondary characteristics, such as dwarfism, cardiomyopathy, chronic pulmonary lung disease, microgastria, fragile bones and alopecia.
But despite her medical hurdles, Michelle still enjoys playing the piano, playing games on her iPad and spending time with her dog Piper.
“Now Michelle is a 20-year-old you lady, she is smart as a whip and happy as ever. She is one of the happiest 20 year olds I know,” Mary added.
“My favourite thing about Michelle is that she has high self-esteem, she loves herself and she really has a lot of confidence, she moves on every day with a happy heart and she makes me happy even when I’m down in the dumps.
“She lights up people’s lives with how happy she is. She knows that she is different but it doesn’t bring her down,” she added.
Michelle also dreams of following in her sister Sarah’s footsteps and finding a boyfriend.
She said she wants a partner who is in touch with his emotional side and has long hair.
“I’ve never had a boyfriend, but I want one, because I am already 20 and Sarah had her first boyfriend at high school,” said Michelle.
“I would love a boyfriend with lots of hair. I don’t care about the heigh because pretty much everyone is taller than me.”
When talking about her future, she continued: “My dream job would be to be a paediatric doctor, but my two backups would to be a fashion designer or an actress.”
Source: dailystar
