News: Rare Disease Affects Long Island Girl
(Long Island, N.Y.) A five-year-old pre-K student from Bayport has been publicized for her remarkable journey battling a rare brain disorder. The type of ailment, which causes uncontrollable obesity and extreme sleep apnea, has less than eighty documented cases worldwide. The disease was discovered years ago, and named in 2007 after twenty-three children were studied.
Three of the children died and others suffered from significant brain damage due to ROHHAD. ROHHAD is an acronym for Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation and Autonomic Dysregulation. As can be inferred, very little is known about ROHHAD and specialists for the rare disorder are often short of funding.
Reports stated that the Bayport girl was a normal baby with no known health problems. Her difficulty breathing gradually escalated, forcing her to wear a four-foot-long breathing tube and push around a hospital ventilator. The machine, which she affectionately calls “Venti,” ensures that her levels of oxygen and carbon dioxide are appropriate.
Mucus has to be cleaned out periodically from the equipment, resulting in a ritual most often performed by her devoted parents. The ritual takes as much as an hour on some nights, and along with needle-pricking for blood tests and recordkeeping of sustenance and wastes, it becomes a daily part of her routine. She must stay in hearing distance to a supervisor because a monitor often alerts her caretakers of changes in her oxygen count.
The disease affects the hypothalamus, a gland in the brain that controls breathing, temperature, blood pressure, hunger/thirst, blinking, and fatigue. Reports stated that it’s possible to experience new symptoms daily with ROHHAD. In addition to having a hole in her throat, the five-year-old Bayport girl suffers from cold and swollen extremities.
The risks she faces include seizures and brain damage due to a cease in breathing and oxygen shortage. The risk for cardiac arrest is amplified because she doesn’t give warning by gasping for air. The risk of death is also present, being that children are affected with ROHHAD before the age of four and the oldest known sufferer is a twenty-one-year-old from Colorado.
The devoted family has visited over two dozen doctors and has purchased a backup generator while taking extra measures to ensure their daughter’s livelihood. They claim that the first signs of rapid weight gain occurred in April of last year when they noticed the toddler with a potbelly. Despite being potty trained, she also showed signs of involuntary urination and suffered from a benign tumor in her abdomen.
Contrary to her health, the five-year-old’s spirits have been flourishing. A verbal, positive, and intelligent child, the Bayport girl inspires many Long Islanders with her story. Since her diagnosis, family members have organized a charity called ROHHAD Fight Inc. that raises money for medical bills and research; her golf-instructor father is planning a tournament in West Sayville for July 18th.
