ROHHAD has caused Jake Vella from Malta to put on excessive weight regardless of the amount of diet and exercise he endures. Diagnosed when he was five, Jake now involves himself with triathlons to keep the weight off and maintain his health, garnering attention and support from his family as well as the public.
Extreme hunger and weight gainJake’s mother, Maruska Vella noticed that something was not quite right with her otherwise normal and extremely active son when he was always hungry, with an almost insatiable appetite. Despite putting him on a stricter diet and exercise, Jake gained a whopping 10kg in the span of just six months.
"I started reading up and trying to frantically find any similar case anywhere in the world," Maruska recounted.
“One day, I found this story of a girl who suffered from an extremely rare condition called ROHHAD, and as I read more about it, I got a sinking feeling that Jake was suffering from the earliest symptoms of the exact same thing.”
After multiple checkups and visits to specialists, Jake’s parents were called in for a diagnosis update of their son.
“As soon as the doctor started writing 'R', 'O', my heart skipped a beat; I knew exactly what was coming next,” said Jake’s mother.
A race against timeROHHAD is an extremely rare disease that affects the autonomic nervous system and the endocrine system. To date, there are less than 100 known cases worldwide. It is an incurable and fatal disease, with the last known survivor reported to be 22 years old before she passed away due to the illness.
According to the US National Institutes of Health, the symptoms of ROHHAD include the inability to regulate body temperature, slow heartbeat, excessive sweating, and altered pupil response to light. They may also be unable to maintain normal water balance in the body, or go through early or delayed puberty.
In some advanced cases of ROHHAD, tumours are also known to develop in the patients. Jake is one of the unfortunate patients, with a tumour growing on his back. However, Jake and his family take all this into their stride and do not let the disease keep him from living an active life.
“My son has always loved staying very active, and he's not stopping anytime soon,” Maruska affirmed.
The young patient trains with the Malta Youth Triathlon Association three times a week and competes in triathlons, just like his father, Josue Vella. Jake’s video of him competing in a triathlon had gone viral and helped raised awareness about the disease.
Being active might just be life-savingIt is unclear as to how to manage ROHHAD, but taking cue from the inspiring Jake, regular exercise and following a strict diet seem to be keeping the conditions at bay.
Jake's trainer, Matt Azzopardi said, “He is extremely positive and motivated and easily the most dedicated. He never misses a training session without valid reason and is constantly eager to train.”
“Jake is very lovable and steals the heart of all who know him. It is sad and heart breaking to see what he has to go through.”
According to Maruska, at one point, Jake had to pause his training in order to go for some medical tests in London. By the end of the trip, his condition had weakened and ended up on a ventilator for a short time.
“All this sports is definitely helping him a lot, and we're grateful we have a son who loves being so active... because it might just be saving him.”
Children who are diagnosed early and have the symptoms well-managed may have a quality life. Maruska says that they “live day-by-day and try to as much as possible make sure that Jake leads a normal life.” MIMS
MALS: When eating becomes painful
Rare disease caused a woman to starve to death
Man had 59kg tumour doctors dismissed as fat