Owen Torti was diagnosed with LCHAD (Long-chain 3-hydroxy acyl-coenzyme A dehydrogenase) when he was just a newborn, his mother, Kayla Torti, told ABC News. The rare genetic disorder means Owen's body is unable to break down certain fatty acids into energy. "If we had breakfast and skipped lunch [our body] would use up the energy from breakfast ... [to] break down stored fats for energy," Torti explained. “When you find out your child has something you’ve never heard of before, you don’t know how to treat it, you also don’t know what it means long term… It can feel really lonely for parents initially,” Tyler Torti said. Two teams wearing shirts that said “All in for Owen” ran the Ragnar Relay through Tennessee to raise awareness for Owen and his metabolic disorder. Within a few days the idea turned into a team of 12 guys wanting to do more than run for the typical reasons of getting in shape and team building – they wanted to run for a bigger purpose. FRANKLIN, TN (WKRN) — A Middle Tennessee family is raising awareness about a rare genetic disorder called LCHAD. Torti said she was told by her doctors that the condition can be related to a syndrome called HELLP syndrome, which can affect a pregnant woman's red blood cells, liver enzymes and platelets. Because of the Newborn Screening, within a few days of his birth, the doctor’s broke the news that Owen had LCHAD – an orphan disease that affects around 1 in 100,000 children. There’s not a lot known about how this will affect him in future and what he will and won’t be able to do, Torti said.
– To all the new parents struggling to feed their newborn every two to three hours, imagine having to do it every hour—for years. Such is reality for the Torti family in Tennessee, whose son, Owen, now 23 months, was diagnosed with the rare metabolic disorder LCHAD (long-chain 3-hydroxyacyl-coenzyme A dehydrogenase) as an infant. Because his body doesn't break down certain foods into energy, Owen is at risk of his body breaking down his muscles for energy if he goes without food for more than an hour, reports ABC News. "He wants to act like a normal 2-year-old and he wants to go and play and run around as long as the other 2-year-olds," mom Kayla Torti says. "Unfortunately, we have to have him sit down and take little breaks. He doesn't know how to pace himself." LCHAD, which was first diagnosed in the 1990s, is so rare it only affects one in every 100,000 newborns and wasn't even on newborn screening tests until six years ago, reports WKRN Nashville. To help with medical bills, two teams recently ran the Ragnar Relay through Tennessee wearing "All in for Owen" shirts and raised $15,000. Owen was born nine weeks premature, according to the family's YouCaring page, and has been hospitalized 12 times in 20 months, typically when a metabolic breakdown causes breathing problems and seizures. If not treated, he could slip into a coma and even die. With the constant eating, his mother says he's developed an oral aversion to food and is on a special medical formula called Lipistart, administered largely through a feeding tube. The Tortis have a 25% chance of having a second child with the same disorder. (These parents are losing both their sons to a rare brain disease.)