Our son’s journey with CSWS epilepsy

csws-epilepsy

Our son Joshua was born in 2010, a happy and healthy 9 pounds. At the age of 2, he was a loving and sweet little boy who loved books, trains, puzzles and playing with his older siblings and friends. He was highly intelligent, speaking in clear four-word sentences. He was curious about the world and loved to learn.

At the age of four, Joshua began to decline in his social skills, becoming anxious, withdrawn and easily angered. He developed a stutter and had difficulty finding words to express himself. He often would not answer when spoken to and began exhibiting autism-like symptoms.

Within a year, Joshua began having facial twitches and became increasingly clumsy. His behavior became more impulsive and unpredictable, making it difficult for him to remain in school or even attend friends’ birthday parties. Fine motor tasks that were once easy became increasingly difficult. He was frustrated, and simple attempts to comfort him sparked aggressive verbal outbursts.

We were referred to a developmental pediatrician near our home in Williamsburg, Virginia. During our first visit, she witnessed a very brief staring spell and immediately ordered an EEG. Joshua was referred for a neurological evaluation, where a second EEG revealed frequent seizure-like discharges that took up much of his non-rapid-eye-movement sleep.

Exploring ESES

Our neurologist told us not to worry because Joshua had a benign epilepsy that most children outgrow by puberty. But Joshua’s report mentioned something called ESES, though he did not quite meet the diagnostic criteria.

We still had so many unanswered questions. If Joshua did have ESES, what would that mean for his future?

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Searching the medical literature, I learned that without a sleep EEG, ESES can easily remain undiagnosed for years, causing potentially irreversible damage. Developmental delay and autism-like symptoms are sometimes the only sign that seizures are occurring. Knowing this, we were determined to find out whether Joshua had ESES and if so, to get him the recommended early intervention treatment.

Having read a story about a boy named Ian with ESES, who was helped by Dr. Tobias Loddenkemper at Boston Children’s Hospital, we decided to seek a second opinion. Dr. Loddenkemper graciously helped to arrange for an appointment with Dr. Phillip Pearl, who remains Joshua’s neurologist today.

Urgency rising

Prior to that first appointment at Boston Children’s, I awoke at 4:15 one morning to find Joshua having a convulsive seizure involving the left side of this body. Within a few weeks, Joshua’s seizures increased and he developed a chronic vocal-motor tic occurring hundreds of times a day.

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Josh gives a thumbs-up in Boston Children’s Epilepsy Monitoring Unit after we learned his ESES was gone.

When we arrived at Boston Children’s, we were relieved to see that Dr. Pearl had spent much time carefully reviewing the voluminous medical records, EEG data and MRI images we had provided. Dr. Pearl soon diagnosed Joshua with Continuous Spikes and Waves during Slow-Wave Sleep (CSWS) Epilepsy Syndrome.

Joshua’s diagnosis devastated us. We were horrified that the seizures occurred during the night while we slept, and we were concerned for his future. Yet, we took comfort in knowing that Joshua was getting the finest medical care available from the kind and talented doctors, nurses and staff at Boston Children’s.

Finding the right epilepsy treatment

Joshua, now almost 7, is being treated with medication at bedtime and receives speech, occupational and behavior therapies. Within a few months of starting his new regimen, the ESES pattern on his EEG disappeared. Soon thereafter, we saw significant improvement in Joshua’s speech and behavior, and the autism-like symptoms resolved. He learned to read, climb and ride a bike for the first time. He is currently doing well in a regular classroom, assisted by a personal aide.

We believe that awareness is the first step toward advancing research into this disease and without research, a cure is not likely to be found. Some parents have asked us why it is so important to share our child’s story. The answer is simple: I firmly believe that when we share our stories, we can improve and even save lives. It did in our case!

Visit the Epilepsy Center at Boston Children’s Hospital.

mom-son-csws-epilepsyAbout the blogger: Vinez Campbell is proud mom to Joshua. She and her husband Thomas established the CSWS Epilepsy & Landau Kleffner Syndrome (ESES) Foundation to raise awareness, pursue research and support impacted individuals and families.