SEATTLE – Mariana Sommer is a typical 7 year old girl – except for one difference. She was born with Pfeiffer syndrome, a rare genetic disorder that affects 1 in 100,000 children.
"It's when my body tells my bones to grow differently," says Mariana.
Pfeiffer syndrome causes premature fusion of bones or the growth of extra bones in any part of the body. Children living with the disease may have a deformed head and bulging eyes. Symptoms and severity range from mild to life-threatening.
Mariana Sommer during one of her visits to a hospital in Seattle Children & # 39; s.
While Mariana's disease is rare, she is not alone. One in 10 Americans has a rare disease. Together, their number grows, and it is one of the reasons why Mariana's mother, Carolina, started the Seattle Rare Disease Fair. He wanted to give voice to the often voiceless.
"I felt like we were meeting in Seattle," says Carolina. "There was not a large community of people coming together, going ahead with actions and defense."
This year, Carolina collaborated with Seattle Children for the fair. It brought together doctors, patients and non-profit organizations like the one who started for Pfeiffer syndrome. Born a Hero increases awareness of the disease and supports research.
"I was so tired of not knowing," says Carolina. "We went to the doctor and it was as if he had surgery in two days. We would be back [and he was] he would have had another surgery in two days. Oh, by the way, he made an extra bone grow in her neck. "
Born a Hero is a non-profit association dedicated to Pfeiffer syndrome.
Born a Hero is also committed to educating society about Pfeiffer syndrome. Carolina often worries about how Mariana will be treated because of her appearance.
"It's very exciting," says Carolina. "We try to encourage people to see that she is just a child and she takes care of it really well."
Through Born a Hero, Carolina has developed a curriculum that teaches children to embrace each other's differences and has written a book for children. Remind Mariana that her rare illness makes her special and there is nothing to be ashamed of. It is a message that Mariana shared at the Seattle Rare Disease Fair. He played the song A Million Dreams from "The Greatest Showman" – a film about everyone's embrace.
"I just want them to see that the differences are interesting," says Mariana.
Mariana Sommer sings with a friend at the Seattle Rare Disease Fair.
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