ORLANDO, Fla. – A five-year old girl with a rare form of epilepsy is now living virtually seizure-free thanks to an unusual treatment. After exhausting all other options, doctors at the Florida Hospital discovered a tiny dose of nicotine administered through a commercially-available nicotine patch was just enough to do the trick.
Five-year old Karen Macon has energy to spare. But that wasn't always the case.
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"She'd wake up tired every morning, dark circles under her eyes," said Karen's mother, Annie Macon.
Doctors diagnosed Karen with a rare, genetic form of epilepsy, called autosomal dominant nocturnal frontal lobe epilepsy.
"Every single night she was having an average of 20 seizures," said Ki Hyeong Lee, M.D., Medical Director of the Comprehensive Epileptic Center at Florida Hospital for Children, Orlando.
"We tried probably seven different anti-convulsive medications," Macon explained, "None of them worked. We tried the ketogenic diet, it didn't work."
Lee is the medical director of the epilepsy program. He says Karen's genetic mutation appears to be linked to a nicotine deficiency in the body. Lee also found evidence a nicotine patch helped stopped seizures in an adult with the same condition.
"Nicotine patch does not have all the bad issues associated with smoking itself," he explained.
Under Lee's guidance, Karen's mother placed one-sixteenth of a commercial patch on her daughter's arm before bed. An overnight follow-up showed no evidence of any seizures.
"I don't see the dark circles anymore and she makes it all the way to bed time and beyond without a nap, so I know that it's working," said Macon.
Lee says the nicotine treatment was used only for patients with this genetic mutation. He says no research has been done to determine the long-term effects of using the tiny nicotine dose, but so far, the benefits outweigh the risks for Karen.
As a result of the treatment, the Macon's have been able to relocate from a major city to a tiny town on the west coast. They had been unwilling to do that while Karen's seizures were uncontrolled.
Additional Information:
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) consists of clusters of seizures that occur almost exclusive during sleep. The seizures can last anywhere from five seconds to five minutes. About 80% of individuals develop ADNFLE in the first two decades of life. Molecular genetic testing shows that mutations in CHRNA4, CHRNB2 or CHRNA2 occur in 20% of individuals with ADNFLE in their family history versus 5% of individuals with no history. Seizures are life-long, with spontaneous remissions and relapses. ADNFLE is usually misdiagnosed as benign nocturnal parasomnias, night terrors, nightmares, obstructive sleep apnea syndrome, psychiatric and medical disorders.
(Sources: http://www.epilepsy.com/information/professionals/about-epilepsy-seizures/familial-autosomal-dominant-focal-epilepsies-0, http://www.ncbi.nlm.nih.gov/books/NBK1169/)
TREATMENT: Anti-seizure medications have been improved over the past decade in the treatment of frontal lobe seizures. A combination of medications may be required for some patients in order for them to have better management. Carbamazepine is the antiepileptic drug (AED) of choice for ADNFLE, although no controlled trials have been conducted. In about 70% of individuals with ADFLNE, carbamazepine is associated with remission of seizures, often with relatively low doses.
(Sources: http://www.mayoclinic.org/diseases-conditions/frontal-lobe-seizures/basics/treatment/con-20026925, http://www.ncbi.nlm.nih.gov/books/NBK1169/)
EXPERIMENTAL TREATMENT: Ki Hyeong Lee, M.D., medical director of the epilepsy program at Florida Hospital for Children, was recommended to Annie Macon, mother of Karen who suffers from ADNFLE, by her pediatrician. Dr. Lee explains that patients with this specific genetic condition respond very well to medications, and researched an unconventional treatment for Karen, using commercially available nicotine patches. He said, "The idea was trying to supply nicotine to her so that her receptor function is recovered." They started with a half-sized patch; however that caused nausea and vomiting. After several trials of reducing the size of the patch, Dr. Lee came to the final number of 1/16th of the original patch size as a treatment for Karen. The treatment is not a ‘one-size-fits-all', according to Dr. Lee, "it's very custom-made, and it's got to be tailored to specific cause of epilepsy." He also states that he would not recommend this treatment to just anyone, and that all options should be exhausted first.
(Source: https://www.floridahospital.com/bestincare/#.VGZvTfnF81I)