Seeking a Cure for a Rare Form of Childhood Epilepsy


The Orange County Guide features doctors’ articles in each issue. Dr. Justin West’s search to cure his son’s rare disease will be familiar to families also in search of a cure for their loved one.

Dr. West, a plastic surgeon, describes the birth of his third child as uneventful. Andrew’s first few months were normal until he developed a slight twitch in his foot. Andrew’s mother, an ophthalmologist, became concerned and posted a video of Andrew in her Facebook group for Orange County women doctors.

In no time she received a reply telling her that the twitch was actually a seizure. The writer recommended getting Andrew to the ER immediately.

Andrew was given various tests at the hospital including a spinal tap which is the extraction of cerebrospinal fluid. In the interview for this article, Dr. West describes being scared of the possible results and also mentions that it was horrifying to see their child undergo this procedure.

The test results were normal but Dr. West and his wife were referred to a specialist as a precaution.

The Seizures Became More Frequent

As time went on the seizures increased until they were occurring as often as 50 times a day. Andrew spent a total of 100 days in the hospital during his first year on this earth.

In his ninth month, Andrew had a gene panel test. The tests called Targeted Gene Sequencing and Custom Analysis can identify over 750 diseases in children that are triggered by mutations.

Andrew’s mutation, KCNT1, is considered a catastrophic type of epilepsy. Most children with the disease do not live past age five. Many cannot walk or talk and are confined to bed.

A Diet That Controls Epilepsy

Andrew’s parents found the ketogenic diet. They were aware that people with advanced forms of epilepsy had positive reactions to the diet. In Andrew’s case, his seizures were reduced from fifty a day to one or two a week.

The ketogenic method of protein, high fat, and low carbohydrates is used in medicine to control epilepsy in children. The body is forced to burn fats instead of carbohydrates.

Encouraged by Andrew’s progress, his parents took him off his anti-seizure medication and he became more alert. Andrew was able to sit and even demonstrate his new independence by reaching out for his bottle.

About Autism Spectrum

Like children with autism, Andrew does not participate in eye contact. He is nonverbal but does comprehend certain phrases. When he hears his parents ask for a kiss he readily complies.

Dr. West and his wife are aware of about eighty children in the United States with this rare disorder. There are perhaps a total of 250 or more in the entire world.

Andrew’s parents are encouraged by the fact that two companies are attempting to develop drugs tailored to Andrew’s genetic mutation.

Dr. West assumes that the drug companies are showing an interest in Andrew’s case because of the similarity to fragile X syndrome.

Fragile X impacts almost two million individuals worldwide. It represents a major cause of intellectual disability. He reasons that finding a treatment for Andrew may pave the way to a treatment for a larger population.

Dr. West would like readers to know about the KCNT1 Epilepsy Foundation. As the Foundation was formed by a group of parents, Dr. West is assured that donations will be applied to the research and development of drugs. He also points out that world-renowned specialists are involved with the program.

Click here to learn more about the KCNT1 Epilepsy Foundation.

Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia four years ago. He was treated with a methylating agent While he was being treated with a hypomethylating agent, Rose researched investigational drugs being developed to treat relapsed/refractory AML.

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