Magali Gonzalez, is pictured at the centre of this photo. |
Magali Gonzalez, as a ,little, kid |
However, though she cannot walk and requires intense medication, this month Magali defied doctors' expectations to reach her 15th birthday. And it made her quinceaƱera even more special. More pictures when you read more...
A quinceaƱera is the Latin American equivalent of a Sweet Sixteen, celebrated on a girl's 15th birthday. Dressed as a princess, the birthday girl has a big party with all her friends to celebrate 'coming of age'.
Speaking to Colombian news site Publimetro, her mother Sofia, 35, said: 'Magali wants to be 15. She told me she wants her party; that even though she doesn't dance, she wants us to dance. She wants balloons and celebrations and that people come.'
While there are different forms of progeria, the classic type is Hutchinson-Gilford Progeria Syndrome, which was named after English doctors Dr Jonathan Hutchinson and Dr Hastings Gilford who first described it in 1886 and 1897 respectively.
HGPS is caused by a mutation in the gene called LMNA.
The LMNA gene produces the Lamin A protein, which is the structural scaffolding that holds the nucleus of a cell together.
Magali Gonzalez and her dad |
Researchers now believe that the defective Lamin A protein makes the nucleus unstable.
Although they are born looking healthy, children with progeria begin to display many characteristics of accelerated ageing at around 18-24 months of age.
Magali Gonzalez and her parents and sister. |
The children have a remarkably similar appearance, despite differing ethnic backgrounds.
Children with progeria die of heart disease at an average age of 13 or 14 years.
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