4-year-old fighting rare disease only diagnosed 76 times

4-year-old fighting rare disease only diagnosed 76 times

RIPLEY, TN (WMC) - A young girl was diagnosed with a syndrome so rare, it stumped numerous doctors across the state. There's no cure, but the Ripley girl is a fighter and her family is determined to prepare other parents for something they never saw coming.

Disguised behind a sea of Minnie Mouse and hidden in the glow of a perfectly pink room is a ventilator and an oxygen tank--just some of the medical equipment needed to keep 4-year-old Alayna Jacobs alive.

Through the smiles and goofy faces, Alayna battles a rare syndrome known as ROHHAD, an acronym for the long name rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation.

"It affects pretty much every part of her body. So when she is asleep, she doesn't breathe at all. Her heart rate can get down to 30. Her body temperature can be 89 as opposed to our 98.6," Chasity Jacobs, Alayna's mother.

The diagnosis is so rare, its symptoms fooled many doctors at first. In May 2015, after Alayna had rapidly gained 25 pounds over a three month period, her parents took her to the hospital in Dyersburg. Her finger nails and mouth were blue and her body temperature just 94.5 degrees.

"We took her to Dyersburg, but they sent her home. They said 'Oh, it's a virus. It's an ear infection,' you know. 'Follow up with primary care tomorrow,'" said Jacobs.

The next morning, Alayna's core body temperature was 89 degrees. Doctors sent Alayna by helicopter to Le Bonheur Children's Hospital. Hospital chaplains met the family and told them to prepare for the worst.

"We were just devastated. We had a perfectly normal child the day before, and now our child is dying and we had no clue why," said Alayna's mother.

Alayna wasn't expected to make it through the night, but she was determined to live. Now, a year and half later, her parents and even doctors are still trying to understand this rare syndrome.

"They literally walked in and handed me something that they printed from Google.  And they say 'We don't know anything.' I mean, they were honest. They said, 'We have never heard of this before. St. Jude had never heard of this before,'" said Jacobs.

Alayna is only the 76th person in the world to be diagnosed with ROHHAD. The syndrome affects the part of the nervous system that controls involuntary actions, like breathing or your heartbeat, and the endocrine system which produces hormones that regulate metabolism, growth, and even your sleep. Symptoms and side effects from ROHHAD can easily be mistaken as another disease.

"We weren't medically trained, because we didn't know what to look for. I hope other parents can fight for this," said Jacobs.

With the daily help of multiple at-home nurses, a team of doctors, and love and support from family and friends, Alayna fights to be like any other 4-year-old, despite a diagnosis doctors say is terminal. The life expectancy for those with ROHHAD is just 10 years.

"We've been told so many times that she wouldn't make it through the night, she wouldn't make it through the week. I have seen her blue over 100 times, but she's a fighter. If anybody can beat it, Alayna can," said Jacobs.

Right now, doctors said there are no tests to determine if a child will develop ROHHAD. Researchers are still looking for the genetic cause of ROHHAD and searching for ways to slow the progression of the disease or the severity of the symptoms.

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