BY NICOLAS FERNANDES
An obese five-year-old whose weight doubled due to an ultra-rare condition that affects less than 100 people is losing the ability to breathe, eat and walk.
Lani Jacobs, of Ripley, Tennessee, USA, suffers from ROHHAD, a syndrome with an unknown cause that leads to extreme weight gain as well as issues in the endocrine and autonomic nervous systems.
The acronym stands for the four primary symptoms — Rapid-onset Obesity with Hypothalamic Dysregulation, Hypoventilation and Autonomic Dysregulation.
She was diagnosed at the age of two, after her mother noticed she was having trouble breathing and packed on 20 pounds in just three months.
Now at six-stone and four-pound (90-pound) she is more than double the weight of an average girl of her age.
Lani, the 76th person to be diagnosed with ROHHAD, is currently bedridden, on a feeding tube, with a ventilator helping breath and a pacemaker keeping her heart beating.
A staff of nurses comes to the house every day to take care of her while the parents are at work.
Her energy level is extremely low and her body temperature is always too cold, having dropped as low as 26.6 degrees (85.4 F).
Most of her symptoms and regression were caused by her most severe seizure, which she suffered six months ago.
Her mum, Chasity, 28, said: “She kept gaining weight and I thought she was having an asthma attack. It was insane.
“Now she’s 90 pounds (six-stone and four-pounds) and she’s going to just keep gaining weight.
“She can’t breath without a ventilator and before she got the pacemaker, her heart rate was in the 20’s.
“I can’t even imagine how she feels. She knows what it’s like to be able to do all the things that she can’t do anymore. It’s like everything is being taken away from her.
“The doctors explained to me that the last seizure affected her brain a lot and that’s why she’s losing all her abilities.
“Her energy is so low that she’ll sleep sometimes for 20 hours straight.”
While she is unable to go to school, Chasity, a second grade teacher, has been trying to teach her when she can.
But with the girl’s low energy level, this isn’t always possible
The mum said: “Her condition is so severe that it wouldn’t be possible for her to go to school.
“I try to teach her some things when I can, but she’s not always in the best condition to learn.”
Due to the severity of her ROHHAD and her weak immune system, Lani doesn’t go anywhere these days other than her doctor appointments and church
Chasity said: “It’s so difficult for her because she wants to do things like go to the circus, but she can’t.
“Sometimes when we’re driving by the McDonalds and she’ll ask if we can go in, but she can’t eat.”
While children with the condition are not expected to live into adulthood, Lani and her family are trying to fight ROHHAD as much as possible.
Chasity said: “We’re basically just refusing to give up. Lani keeps on fighting and we’re currently bringing her to see 14 different doctors.”
Dr. Debra Weese-Mayer of Ann & Robert H. Lurie Children’s Hospital of Chicago says that while the symptoms can be severe, it is possible for ROHHAD patients to live past childhood.
She said: “If the children are meticulously managed in terms of artificial ventilation, hypothalamic dysregulation, and the autonomic dysregulation, they can successfully grow into adulthood.
“The rapid weight gain of 20 to 30 pounds over a 3 to 6 month period typically between the ages of two and seven heralds the condition.
“Then over time, the other features of the clinical presentation manifest including hypothalamic dysfunction, hypoventilation, and autonomic dysregulation.”
Dr. Debra added: “The children typically require a tracheostomy to be sure the artificial ventilation is stable to provide life-support during sleep.
“Many children hypoventilate awake and asleep, so they would need artificial ventilation awake and asleep as life support.”