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Arp family fights through rare disease

A little girl in Arp was diagnosed with a rare genetic disorder, and doctors are still looking for answers.

A little girl in Arp was nearly misdiagnosed, because doctors are still learning about a rare disease.

Tish Reagan said her 3-year-old daughter Evie showed symptoms early, but she never knew what they were.

"She did not wake up. She was one, two months old. Normally they start cooing and talking," Reagan said. "At 15 months, she was still 10 pounds, and her length was 23 inches. Born at 19, that's not much growing. So, for us, it was her miniature size, and her difficulty with weight gain."

After countless doctor visits across the state, the family found a genetics doctor that took notice, and was diagnosed with Wiedmann-Steiner Syndrome.

"We only got the diagnosis because her genetics doctor wanted to find out wanted to find out what she had. He wanted to get down to the bottom of it."

Reagan said her doctor was concerned if this could be life-threatening.

Doctors only started diagnosing people in 2012, and are still trying to figure out exactly how to treat and prevent it. Only several hundred people are diagnosed with it, according to researchers.

Symptoms include short stature, developmental delay, low muscle tone and unusual facial features.

As for dealing with the disease, Reagan said it's not easy.

For starters, her doctor is in Houston. The family has made seven trips in the last two months.

While there aren't many answers from doctors just yet, Reagan knows her daughter will be okay.

"Regardless of what her life looks like in the future, she's going to be taken care of, and she's going to be loved, and she's got support," she said.

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