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Alayna JacobsLittle girl with extremely rare ROHHAD syndrome
Country:
 USA |
Content:
- Alayna Jacobs: A True Fighter Against a Rare Syndrome
- Symptoms and Diagnosis
- A Life-Threatening Emergency
- Uncharted Territory
- Ongoing Support and Hope
Alayna Jacobs: A True Fighter Against a Rare Syndrome
A Rare and Devastating IllnessFour-year-old Alayna Jacobs suffers from an incredibly rare disorder known as ROHHAD syndrome. This condition causes rapid weight gain, stops her breathing at night, and can drop her temperature to dangerously low levels, turning her blue. For months, doctors struggled to decipher the enigmatic symptoms that plagued Alayna, resorting to Google for guidance. With only 75 known cases worldwide, ROHHAD is an elusive and enigmatic disease. Doctors predict that Jacobs will likely not live past the age of 10.
Symptoms and Diagnosis
ROHHAD stands for rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation. It affects the part of the nervous system that controls involuntary actions, such as breathing and heart rate, as well as the endocrine system, which produces hormones that regulate metabolism, growth, and sleep. The symptoms and side effects of ROHHAD can be easily mistaken for other illnesses, including hyperthyroidism and Cushing's syndrome.
"It affects every part of her," says Alayna's mother, Chastity Jacobs. "When she goes to sleep, she will stop breathing completely." Her heart rate can drop to 30 beats per minute, and her body temperature can plummet to 90 degrees Fahrenheit (32 degrees Celsius).
A Life-Threatening Emergency
In May 2015, her parents knew it was time to take Alayna to the hospital. She had gained 25 pounds in just three months, her nails and lips were turning blue, and her temperature would not rise above 95 degrees Fahrenheit. The doctors initially diagnosed her with an ear infection and sent her home. But by the next morning, her temperature had dropped to 89 degrees Fahrenheit. She was immediately transported via helicopter to Le Bonheur Children's Hospital in Memphis. The hospital chaplain met the family and advised them to prepare for the worst.
"We were devastated," recalls Chastity. "We had a perfectly healthy child the day before, and now she was dying, and we had no idea why."
Against all odds, Alayna survived the night. However, one and a half years later, her parents and doctors are still trying to understand the implications of ROHHAD.
Uncharted Territory
"The doctors came in with a paper literally that they had Googled," Chastity said. "They said that they really didn't know much about it. They were very upfront about that. They said they'd never heard of this before, and they had not heard of it at St. Jude's."
Alayna became the 76th person in the world to be diagnosed with ROHHAD. She now relies on an oxygen tank and breathing machine to survive.
"Medically, it caught us by surprise, because we didn't know what to look for," Chastity said. "Hopefully, other parents won't have to go through this."
Ongoing Support and Hope
Alayna receives daily assistance from a team of home health nurses, a team of doctors, and a network of family and friends. However, her condition is incurable and potentially fatal. The average life expectancy for someone with ROHHAD is only 10 years.
"We have been told many times that she would not make it through the night, she would not make it through the week," Chastity said. "I've seen her blue over a hundred times. But she's a fighter. If anybody can beat it, it's her."
Doctors say that there is currently no way to test for ROHHAD before a child develops the disorder. Researchers are working to find a possible genetic trigger and ways to slow its progression and manage its symptoms.
