Texas Woman Suffers from Rare Wasting Disease Yet Stays Upbeat

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The world today was introduced to 21-year-old Lizzie Velasquez, a woman with a rare genetic condition that prevents her from gaining weight despite 60 small meals a day adding up to between 5,000-8,000 calorie diets. The doctors are not 100% sure of her condition, but believe it to be Neonatal Progeroid Syndrome, a condition that not only causes wasting, but also an elderly appearance due to accelerated aging.

Miss Velasquez, a communications student from Austin, Texas, was born four weeks prematurely at 2 pounds 10 ounces. The doctors found there was minimal amniotic fluid protecting her in the womb. Today, she must eat every 15-20 minutes just to keep her energy levels up. "I eat small portions of crisps, sweets, chocolate, pizza, chicken, cake, doughnuts, ice cream, noodles and pop tarts all day long, so I get pretty upset when people accuse me of being anorexic," she says.

Today she stands 5 feet 2 inches tall and weighs 56 pounds. Ideal weight for a female her height is approximately 110 pounds. "I weigh myself regularly and if I gain even one pound I get really excited," said Miss Velasquez, who wears size triple zero clothes. She is also blind in one eye and has limited vision in the other.

Lizzie is part of a genetic study run by Professor Abhimanyu Garg MD at the University of Texas Southwestern Medical Center in Dallas. Dr. Garg has diagnosed her with Neonatal Progeroid Syndrome, or NPS.

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NPS, also known as Wiedemann-Rautenstrauch Syndrome, is an autosomal recessive disorder characterized by accelerated aging and lipodystrophy (abnormal loss of adipose tissue) from birth. Those with the condition have extreme intrauterine growth retardation, poor postnatal weight gain, and have characteristic progeroid features, including a triangular, old-looking face with a beak shaped or pinched nose. Other features include pseudohydrocephalus (enlarged head), prominent veins especially of the scalp, and sparse scalp hair.

One study, presented in the journal Pediatrics and Neonatology, suspects a DNA repair defect is involved in the pathogenesis of the disorder.

Dr. Garg says, "We cannot predict what will happen to Lizzie in the future as the medical community has yet to document older people with NPS. However Lizzie is lucky to have healthy teeth, organs and bones so the outlook is good. We will continue to study her case and learn from her."

Despite her condition, Lizzie Velasquez is very upbeat and has not let a disability keep her back. She was a cheerleader and is currently attending college. She has also helped write a book about her experiences, which is due to be released in September. She hopes to one day become a motivational speaker.

"People have asked me if I had a miracle or a chance to change the way I look, I honestly know I would never do that," she wrote. "God made me the way I am for a reason and I would never change that. I lead a normal life as much as possible and deal with the bumps in the road as they come along with my head held high and a smile on my face!”

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Comments

Great article. My two eldest sons have a rare neurological disease that is fatal but I couldn't imagine what she has to experience everyday.