Metro Detroit 2-year-old may be only patient in US with this very rare disease

Posted at 4:43 PM, Oct 17, 2018
and last updated 2018-10-17 18:05:15-04

A 2-year-old girl is battling such a rare disease, she may be the only person in the United States suffering from it.

Emma Neal is being treated at Mott Children’s Hospital in Ann Arbor. She looks and acts like the average toddler. Chat with her for a few minutes and you can tell she’s one in a million.

When you hear about her medical condition, you’ll learn she’s actually one in more than 300 million with the disease.

She has Degenerative Leiomyopathy.

Doctors told her mother, Ashley, that Emma is believed to be the first person suffering from it in the country.

“There is only 18 cases of it in Africa,” Ashley said.

This rare disease causes intestinal issues that could lead to malnutrition and treating it has been difficult.

“Every time she would get released from the hospital, she’d be back to the hospital within five days,” Emma's mom said.

The symptoms started back in April when Emma began vomiting after eating or drinking. After tests at Mott Children’s Hospital, the doctor told them about this rare disease with no cure.

“One time she ended up in cardiac arrest," Ashley said. "A few times she takes a nap and ends up in septic shock when she wakes up.”

Emma has been at Mott for more than a month and has been in the ICU four times.

The family is from the western part of the state.

Ashley quit her job to care for Emma. Her other children try to come visit, while her husband commutes to work more than four hours each day.

They heard about a specialist in Cincinnati that could help, but Emma is too ill to leave the hospital.

“They usually do a 14-day course of antibiotics and we get to go home, but before she hits the 14 days she ends up getting more bacteria infections in her blood,” Ashley said.

The family just takes it day-by-day, praying this sweet little girl will survive this battle.

“Our biggest fear is we don’t know if she will ever leave,” Ashley said.

Emma’s birthday is in two weeks and it looks like she will be spending it at the hospital.

You can follow Emma’s story on here Facebook page here.

And to donate, go to a their GoFundMe page here.