Colombian Teen With Premature Aging Disease Defies Expectations, Celebrates Quinceanera
A teenager in Colombia surpassed doctors’ expectations by celebrating her 15th birthday despite having a rare premature aging disease. Medical experts previously opined that she would only live until 13 years old.
Daily Mail reported that Magali Gonzalez Sierra was diagnosed with Hutchinson-Gilford progeria syndrome when she was only a baby. She has the appearance of a 90-year-old and was expected to live only until she was 13 years of age. However, she lived beyond doctors’ expectations after celebrating her quinceañera, the Latin American equivalent of sweet 16.
Hutchinson-Gilford progeria syndrome is a fatal genetic disease mainly characterized by the appearance of children aging rapidly. Patients are born looking normal and healthy, but will show signs of quick aging from 18 to 24 months old. Other symptoms include stiffness of joints, cardiovascular disease, loss of hair and body fat, growth failure, hip dislocation and stroke. Affected children with different ethnic backgrounds generally look the same. Many patients with progeria die of heart disease by the time they reach 13 or 14 years old. The occurrence of HGPS is one in every eight million live births.
The disease is triggered by LMNA, a genetic mutation, which produces the Lamina protein that holds the cell nucleus together. If Lamina has defects, the nucleus becomes unstable.
The disease was named after English doctors Jonathan Hutchinson and Hastings Gilford who were the first to describe the condition in 1886 and 1897, respectively. Parents of patients are constantly afraid that the latter may suddenly die. At present, Magali cannot walk and requires a lot of medications.
“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,” Magali’s mother, Sofia, told the local news site Publimetro.
The Sun revealed that Magali’s family was happy to oblige her request to celebrate and dance on her 15th birthday. Miguel Becerra, a famous fashion designer, dressed Magali in a beautiful lilac gown and helped her put on a wig and tiara. She had a huge birthday party with family and friends. She arrived at the venue in a decorated cart. There was music, a lot of dancing and food to celebrate her accomplishment in life.
Although Magali managed to exceed her doctors’ expectations, fear is still present in her family. HGPS patients rarely live beyond their 20s.
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