Nicotine patch ends seizures for 5-year-old girl

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The "patch" has long been an aid for people who are trying to kick the habit. But now, it is also helping a girl with a rare genetic disorder.

A 5-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 a Florida hospital discovered that a tiny dose of nicotine, administered through a commercially available nicotine patch, was just enough to do the trick.

5-year-old Karen Macon has energy to spare, but that wasn't always the case.

"She'd wake up tired every morning with dark circles under her eyes," says Annie Macon, Karen’s mother.

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," says Ki Hyeong Lee, medical director for the epilepsy program at Florida Hospital for Children.

"We tried probably seven different anti-convulsive medications and none of them worked,” adds Macon.

Dr. Lee says Karen’s genetic mutation appears to be linked to a nicotine deficiency in the body. Dr. Lee also found evidence that a nicotine patch helped stopped seizures in an adult with the same condition.

"The nicotine patch does not have all the bad issues associated with smoking itself," explains Lee.

Under Dr. 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 bedtime and beyond without a nap, so I know that it's working,” says Macon.

Dr. 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 Macons 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.

BACKGROUND: 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.
(Source: 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.
(Source: 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.fhbestincare.com/articles/an-uncommon-cure/#.VGZvTfnF81I)

FOR MORE INFORMATION ON THIS REPORT, PLEASE CONTACT:

Allison Weiss
Public Relations, Florida Hospital
(407) 303-8238
Allison.weiss@flhosp.org

If this story or any other Ivanhoe story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting Marjorie Bekaert Thomas at mthomas@ivanhoe.com