ORANGE, Conn. (WTNH) -- Rachel Howard, 17, was diagnosed with epilepsy at 5-years-old, now doctors say she has rare genetic epilepsy disorder called Ring Chromosome 20.
When you walk into Julia's Bakery in Orange, be sure to say hello to Rachel Howard, it will put a smile on her face. The 17-year-old deals with a rare genetic epilepsy syndrome.
"Well, sometimes I feel like a little shaky inside," she said. "But I guess it's my Ring 20, I'm not sure."
Longer seizures than what other epilepsy patients experience led to a diagnosis of what's called Ring Chromosome 20.
Neurologist Dr. Susan Levy explains, "She had a blood test that evaluated her chromosomes and her 20 chromosome was found to have formed a ring after some breakage of the two pieces of the chromosome."
Dr. Levy says Rachel is only one of 60 reported cases ever.
"What's very unusual about this disorder is that the seizures cause what we call non-convulsive status epilepticus, meaning that the seizures go on for a very long period of time, but during that time she's able to talk to you intermittently," Dr. Levy explained.
Children with Ring 20 have learning difficulties and some behavioral problems, which makes Rachel's days challenging.
Rachel's mother, Kelly Bustos says, "There doesn't seem to be a day where there isn't some type of confusion period, which are very small subtle seizures or stronger ones and if there are stronger ones, she can be confused or sleep for hours afterwards."
"Well sometimes when I'm at school, if I have a seizure, it feels like I miss out on quite a few things that other kids can do without them," Rachel said.
A supportive family gets her through those tough times.
"Usually my mom, my sister, they help me a lot," she said. "I am happy I have a loving family."
Ring Chromosome 20 is difficult to treat. Dr. Levy says medications do not always work.
Rachel has recently joined a teen support group organized by Epilepsy Foundation of Connecticut.
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