- Title: Four-year old fights fatal disease with new treatment
- Date: 7th September 2017
- Summary: IRVINE, CALIFORNIA, UNITED STATES (RECENT - AUGUST 30, 2017) (REUTERS) VARIOUS OF ELY BOWMAN PLAYING WITH HIS PARENTS, BEKAH AND DANNY BOWMAN (SOUNDBITE) (English) BEKAH BOWMAN SAYING: "Something that we always wanted with our boys is to make memories and have a good time, but it takes a whole different meaning when you are given this timetable for your child's life. And I remember getting Titus's diagnosis and we were in the parking lot leaving from that trip, that visit to the doctor's office, and we're like, 'we need to go to Disneyland.' Our boys hadn't been there yet. And it just takes on a whole different meaning. I see Ely playing in the pool or at the splash pad 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 and do that kind of stuff." ORANGE, CALIFORNIA, UNITED STATES (RECENT - AUGUST 25, 2017) (REUTERS) VARIOUS OF NURSE PREPARING VIAL BEKAH BOWMAN STANDING ABOVE ELY IN HOSPITAL BED ELY IN HOSPITAL BED RECEIVING TREATMENT (SOUNDBITE) (English) RAYMOND WANG, CHILDREN'S HOSPITAL OF ORANGE COUNTY (CHOC) PHYSICIAN, SAYING: "So, in Ely's condition, he's missing an enzyme called TPP1. So, 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 of this medicine called Brineura, and it goes into his brain and it basically does the job that the enzyme does in you and I, except because he doesn't have it, we give it to him and it helps to chew up that stuff, the waste products." RAYMOND WANG, CHILDREN'S HOSPITAL OF ORANGE COUNTY (CHOC) PHYSICIAN, MEETING WITH ELY ELY IN HOSPITAL BED WANG EXAMINING ELY (SOUNDBITE) (English) RAYMOND WANG, CHILDREN'S HOSPITAL OF ORANGE COUNTY (CHOC) PHYSICIAN, SAYING: "I see this as hope. I see this as getting him more time. Ely had an older brother Titus who passed away from his condition, and we know that if we don't treat, that's going to be what happens to children who have CLN2 disease, they pass away from neurodegeneration. This medicine helps to at least halt, or perhaps slow down the progression of the disease, so that people who are working on better treatments, therapies, even cures for Batten disease will have the time so that Ely can potentially get treated with this and not face the same fate that his older brother did." VARIOUS OF MEDICAL EQUIPMENT TUBE THAT ADMINISTERS MEDICINE ELY LOOKING AT PHONE (SOUNDBITE) (English) BEKAH BOWMAN SAYING: "So, Titus at this age was growing fairly clumsy. He was falling a lot and he was having a lot of seizures that were not easy to control. Ely, while still clumsy, 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. So that's, to me that shows me the treatment is doing something. And he's just continuing to cruise. He's kind of on cruise control. He's not necessarily gaining a bunch of new skills, but he's not losing, which is awesome." VARIOUS EXTERIORS OF CHILDREN'S HOSPITAL OF ORANGE COUNTY (CHOC) IRVINE, CALIFORNIA, UNITED STATES (RECENT - AUGUST 30, 2017) (REUTERS) VARIOUS OF ELY PLAYING
- Embargoed: 21st September 2017 20:42
- Keywords: Batten disease children illness fatal disease Ely Bowman CHOC Children's Hospital of Orange County Brineura
- Location: IRVINE AND ORANGE, CALIFORNIA, UNITED STATES / UNIDENTIFIED LOCATIONS
- City: IRVINE AND ORANGE, CALIFORNIA, UNITED STATES / UNIDENTIFIED LOCATIONS
- Country: USA
- Topics: Health/Medicine,Human Interest / Brights / Odd News
- Reuters ID: LVA0016XLI5AX
- Aspect Ratio: 16:9
- Story Text: Ely Bowman, like most four-year olds, is a bundle of energy. He spends his days riding his toy car though the backyard of his Irvine, California home, bowling with his pint-size ball and pins, and dancing under his bedroom disco ball.
But every two weeks, things aren't so fun. Ely and his parents, Bekah and Danny Bowman, go to Children's Hospital of Orange County (CHOC) where they fight to save 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 2 to 4 of every 100,000 births in the U.S., according to the National Institute of Neurological Disorders and Stroke. Inherited from parents who each carry a recessive gene, the disease has no cure. But a breakthrough treatment 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 doesn't 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," said CHOC physician Raymond Wang. "Because he can't make it himself, he is now getting every two weeks an infusion...into his brain and it basically does the job that the enzyme does in you and I."
While not a cure, the treatment aims to delay the inevitable effects of Batten disease, which can include speech impairment, blindness, and dementia. Wang hopes in Ely's case, the drug will be a lifeline, postponing any effects until a better treatment, or even a cure, is discovered.
Bekah Bowman said she believes it's working.
"Titus at this age was growing fairly clumsy. He was falling a lot and he was having a lot of seizures that were not easy to control. Ely, while still clumsy, 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. So that's, to me that shows me the treatment is doing something," said Bowman. "He's not necessarily gaining a bunch of new skills, but he's not losing, which is awesome."
The treatment doesn't come cheap. Brineura can cost as much as 700,000 dollars 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. Family friends started a fundraiser, gofundme.com/team4titus, to help alleviate expenses.
But right now, the Bowmans aren't focusing on bills; they're savoring the moments that they have with Ely.
"Something that we always wanted with our boys is to make memories and have a good time, but it takes a whole different meaning when you are given this timetable for your child's life," said Bowman. "I see Ely playing ... 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 and do that kind of stuff." - Copyright Holder: REUTERS
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