Though stricken with a rare brain disease, 5-year-old Elle Gieselmann can still walk and talk and suffers far fewer seizures thanks a new drug that she’s been taking experimentally, her father says.
Ayrika Whitney/USA TODAY NETWORK – Tennessee
Though stricken with an extremelyÂ rare brain disease, 5-year-old Elle Gieselmann still can walk and talk whileÂ sufferingÂ far fewer seizures, thanksÂ a new drugÂ she’s been taking experimentally, her father says.
The East Memphis girl has been part of a clinical trial of the medication known as Brineura to treat the effects of Batten disease, an inherited disorder that causes proteins and lipids to accumulate and kill brain cells, triggeringÂ seizures, a loss of motor skills and speaking abilityÂ and eventually causingÂ death, usually by age 12. Elle’sÂ older sister Milla died fromÂ the disease in November, but her eldest sibling, Ann Carlyle, does not have the disorder.
Elle’s dad,Â Frazer Gieselmann, said that while the disease remains incurable, the drug has arrestedÂ itsÂ degenerative effects.
“She’s not getting better. (But) it has definitely slowed the progression of the disease,” he said.
To the relief of Frazer and his wife Dana Gieselmann, the federal Food and Drug Administration this week approved Brineura as a treatment for the specific form of Batten that Elle is battling. The regulatory action makes the drug commercially available through prescription.
“The FDA is committed to approving new and innovative therapies for patients with rare diseases, particularly where there are no approved treatment options,” Dr. Julie Beitz, a director in a drug-evaluation office in the agency’s Center for Drug Evaluation and Research, said in a prepared statement. “Approving the first drugÂ for the treatment of this form of Batten disease is an important advance for patients suffering with this condition.”
Frazer Gieselmann said that with the FDA approval Elle soon might be able to get her infusions of the drug at LeBonheur Children’s Hospital in Memphis. She now has to travel every other week to Nationwide Children’s Hospital in Columbus, Ohio, site of the clinical trial, to get them. Local supporters of the Gieselmanns have been paying the airfare to Columbus, but the hotel and car-rental costs have been a financial burden for the family.
The FDA action raises other financial issues, however. BioMarin Pharmaceutical, the California-based biotech firm that plans an early June launch of Brineura, estimates the drug will carry an average net cost of $486,000 per patient perÂ year.
Gieselmann saidÂ insurance companies could agreeÂ to help cover the costs of the medication, especially since the form of Batten afflicting Elle is so rare that…