Bringing new hope to patients and their families, CHOC is now among a few hospitals in the country to offer treatment for a rare genetic brain condition that has previously been considered a death sentence for children.
CHOC has been fast tracked to commercially provide Brineura, the first and only treatment for CLN2 disease, also known as late infantile Batten disease. The condition typically begins with language delays and seizures before age 3, and rapidly progresses to dementia, blindness, loss of the ability to walk and talk, and death in childhood.
Bringing Brineura to CHOC is the product of three years of work by metabolic specialist Dr. Raymond Wang.
“This is huge,” Dr. Wang says. “You’re taking a progressive and fatal disease and stopping it. Having seen how heartbreaking it is for families to see the child they know get slowly robbed from them, the fact that we can offer these families hope, is tremendous. Something like this is the very reason I went into medicine and specialized in metabolic disorders: to provide hope to families affected by rare disorders such as late infantile Batten disease.”
Dr. Wang works closely with CHOC neurosurgeon Dr. Joffre Olaya to administer the medicine. Each patient has an Ommaya reservoir implanted under their scalp, which allows the medicine to be infused directly into their brains.
In a sterile procedure every two weeks, Dr. Olaya and a team of highly trained nurses insert a needle into the reservoir to administer the medication. The infusion lasts four hours, and after four hours of observation, the patients can go home.
While not a cure, the drug can slow the progression of the disease. Over a three-year period, patients treated during clinical trials showed no progression of the disease, which was radically different from the disorder’s natural course. The medication improves quality of life and buys patients critical time as researchers continue to search for a cure.
Having the treatment available close to home is a game changer for the Bowman family. A participant in the clinical trial, Ely Bowman, 4, would travel every 10 days with his parents from Orange County to Columbus, Ohio, for treatment.
But now, the Bowmans need only to drive a few miles to CHOC for this critical treatment.
“For Ely to be home and have consistency and we can still have some fun is wonderful,” his mother, Bekah, says. “We can see him thriving.”
Refer a patient for a metabolic disorder evaluation.