University of Miami

Girl With Rare Disease Stuns Doctors Weeks After Treatment

Ximena has a rare disease which affects only about 50 people in the world.

At 5 years old, little Ximena finally took her first steps. An undiagnosed disease kept her from doing the things children her age typically do.

But now, she's being called a medical miracle.

Doctors at University of Miami's Undiagnosed Diseases Center said Ximena had the capabilities of a 3-month-old, but with breakthrough treatment she left doctors stunned and her family overjoyed.

Just weeks after receiving treatment, Ximena can respond when she's asked her age. It may seem like a simple gesture, but this is a major milestone for the 5-year-old.

Her sister, Maria, told us from Central Florida the family is thrilled to see Ximena finally moving on her own, something she was unable to do for most of her young life.

"We have seen a lot, a lot of progress. Even in the last couple of weeks," Maria said. "It made us sad to just see her laying there and we have other little kids running around playing and she wanted to be a part of that."

Ximena's mother, Leticia Morales, says over the years she only got bad news from doctors they visited to try to figure out why she wasn't developing. Speaking in Spanish, Leticia recalled doctors telling her there was nothing else they could do. They told her Ximena would not last long.

But then the girl's family found UM's Undiagnosed Diseases Center. Dr. Kumarie Latchman is an assistant professor at UM's Department of Clinical Genetics. She recalled Ximena being carried in to the center in her parents' arms.

"She had no voluntarily movement. She couldn't move her arms, she couldn't move her legs, she couldn't sit, she couldn't raise her head," Dr. Latchman explained. "For me, it was as if I was looking at a 3-month old baby."

Dr. Latchman says it took several months to finally discover Ximena has a rare disease which affects only about 50 people in the world.

"She was diagnosed by whole exome sequencing to have a condition called Sepiapterin Reductase Deficiency," Dr. Latchman explained.

Her condition is similar to Parkinson's Disease, so she was treated with a medication that's similar to what is given to Parkinson's patients.

In a matter of weeks of treatment, doctors saw improvement in Ximena. The 5-year old is now able to move her legs, lift her head and move her arms on her own.

Leticia says she did not lose hope and that she would keep fighting for her daughter until God allowed her to.

Ximena's improvement is an inspiration to the family.

"There's hope to not give up. She's 5 years old now and we just found the treatment, but we never gave up in her," her sister Maria said.

Doctors believe within a year Ximena's physical and mental capabilities will increase -- news that brings tears of joy to her parents.

"She is the miracle. She stands to highlight the reason that we do genetic testing and why it's so important to test every child that has not been diagnosed," Dr. Latchman said.

With the progress she's making, doctors believe the 5-year-old can start attending school as early as next year.

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