Two and a half years ago, Jake Vella was a healthy and extremely active five-year-old boy. Suddenly, his eating habits changed. He started getting uncontrollably hungry all the time, and in just six months, he gained 10 kilos. When his parents changed his diet to only salads and included a strict exercise diet regime but he still continued gaining weight very quickly, they knew something was wrong.
“I started reading up and trying to frantically find any similar case anywhere in the world,” his mother 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.”
ROHHAD is an acronym for Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation and Autonomic Dysregulation. There are only 75 known cases of this condition worldwide, and it is both incurable and life-threatening. As it stands, the longest-living survivor of ROHHAD was 22 years old before she died.
“After multiple checkups and visits to medical specialists, my husband and I were called in for a diagnosis update. As soon as the doctor started writing ‘R’, ‘O’, my heart skipped a beat; I knew exactly what was coming next.”
“As soon as the doctor started writing ‘R’, ‘O’, my heart skipped a beat; I knew exactly what was coming next.”
40% of individuals with ROHHAD also develop neural tumors, with some cases even having a direct effect on the child’s IQ. As it so happens, Jake is also part of that 40%, meaning he technically suffers from an even more advanced level of this already very rare condition, officially called ROHHAD-NET. But if you thought that would stop Jake or his family, you’d be very wrong.
“My son has always loved staying very active, and he’s not stopping anytime soon,” Maruska affirmed. “He adores cycling, and you should see how passionate he gets when he’s swimming. He also plays the drums, and he’s always running around the house.”
Now seven years old, Jake runs triathlons.
Unfortunately, a condition that manifests itself like this has over the last couple of years turned some heads. “The looks are what hurt the most. People are always going to talk behind your back, and in a case like this, it’s mostly ignorance”, Maruska explained.
“But the looks are the worst, especially if Jake were to notice. If you see someone who is obese, or looks different, you have no way of knowing whether he has any sort of condition, even if it isn’t one as rare as my son’s. So please; don’t keep staring, because you’ll keep hurting us.”
Despite all the hardships that Maruska and her husband Josie are going through at the moment, they want to use this opportunity to point out how harmful people can be with their misconceptions and stereotyping of people who are suffering from obesity. “We are a very healthy and active family,” Maruska stressed. “My husband and son both run triathlons, but because of Jake’s rare condition, we are judged as irresponsible parents to an obese child. They don’t know Jake’s story, and how he never stops exercising and is constantly eating healthy. At home, he’ll even draw our attention if we eat something which is unhealthy.”
“Please don’t keep staring, because you’ll keep hurting us.”
Jake’s father Josie, running last Sunday’s Malta Marathon. “I will dedicate this race to my inspiration, my son Jake,” he wrote the day before.
One of the things that must hurt the most is the uncertainty that the future holds for the Vella family. “No one has lived beyond the age of 22 with ROHHAD, and there are children who are younger than Jake who are kept on a ventilator on a 24 hour basis,” Maruska said. “We live life day-by-day, and try to as much as possible make sure that he leads a normal life.”
What Maruska and Josie have come to find out, however, is that their son’s lifestyle is definitely helping him fight this condition. “When we went up to London to get some tests done, Jake had to stop from all his training. By the end of the trip, he was the weakest he has ever been, and even 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.”
“We’re grateful we have a son who loves being so active… because it might just be saving him.”
Our talk was cut short when Jake came into the room, reminding his mother that he was late for swimming.