10yearold Albuquerque girl works through one in a million diagnosis
Jan 21, 2025
ALBUQUERQUE, N.M. (KRQE) – A now ten-year-old girl from Albuquerque spent most of her early years at the hospital with symptoms that baffled physicians. That was until a team of doctors in Colorado diagnosed her with a one-in-a-million genetic disorder. Now years later, she's finally been able to make incredible strides in her health. "When Mia was born, Mia weighed 830 grams so just over one pound. So she was a micro preemie," said Natasha Marez, Mia's mom.
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Mia Varga's childhood was anything but simple. "She was still about seven pounds at a year old so she was in newborn clothes," said Marez.
The symptoms went beyond Mia's difficulty growing. Marez said they were in and out of the hospital for sepsis, and infections, and by the time she was four years old, Mia's hair which was brown, fell out. It grew back red fell out again and came back blonde. "We didn't have any answers, any diagnosis we had a bunch of what-ifs," said Marez.
It wasn't until Mia was nearly five years old when doctors diagnosed her with trichohepatoenteric syndrome which is a rare genetic mutation that impacts a child's hair, liver, and intestines. "Mia came to us from New Mexico when she was having significant problems trying to figure out what exactly was causing her to have diarrhea, abdominal pain," said Dr. Edwin de Zoeten, Children's Hospital Colorado.
He said the diagnosis is one in a million. "It was really amazing to kinda determine what she had because she had had some genetic testing done that didn't identify this as an issue," said Dr, de Zoeton.
Finally, Mia was able to see the results. "One of the big things for me is weight gain and growth and you know, she's not a large tall person but she is maintaining her nutrition and doing a great job with that she is a spitfire," said Dr. de Zoeton.
Now, at ten years old, Mia never let the diagnosis keep her down. "She does cheerleading, she's done gymnastics, ballet," said Marez. "Size isn't everything."