CALIFORNIA (REUTERS) - Ely Bowman is a four-year old bundle of energy. He loves driving his car in the backyard of his Irvine, California home. He practises his bowling technique with his parents, Bekah and Danny, and has an affinity for talking dinosaurs.
However, every two weeks, things are not so fun when Ely goes to Children's Hospital of Orange County (CHOC) where he fights for his life.
Ely has CLN2, one of many types of a fatal disorder called Batten disease. His brother, Titus, died of it last year at the age of six. The disease is extremely rare, only occurring in about two to four of every 100,000 births in the US. Inherited from parents who each carries a recessive gene, the disease has no cure. A breakthrough treatment, however, is giving the Bowman family hope.
Doctors are giving Ely a newly FDA-approved drug, Brineura, which acts as a replacement for an essential enzyme that his body does not produce, called TPP1.
"Imagine this enzyme is a little Pac-Man that's going into the nerve cells and eating up the junk that's building up inside neurons. Because he can't make it himself, he is now getting every two weeks an infusion that goes into his brain and it basically does the job that the enzyme does in you and I, and it helps to chew up that stuff, the waste products," Ely's doctor, Raymond Wang, explained.
Bekah Bowman believes it is working.
"He's not falling like Titus was. And he is not having any seizures yet, which is really incredible to be a four-year with CLN2 and to not be having seizures," she said.
The treatment does not come cheap. Brineura can cost as much as US$700,000 (S$937,044) for just one year. While the Bowman's insurance picks up the majority of the costs right now, they will have to re-appeal for approval next year. However, right now the Bowmans are not focusing on bills; they're savoring the moments that they have with Ely.
"I see Ely playing in the pool or even at the park and I just appreciate it in a whole different way because I know what he's fighting and I know what that means for him to be able to run around do that kind of stuff," Mrs Bowman said.