Brian was born on May 13, 1994, six weeks premature. I was told he was a big boy, weighing 5 lbs. He has a brother who is two years older, and a sister who is two years younger. My pregnancy was perfectly normal up until the moment I went into labor. From the moment of his birth, I had a feeling there was something unusual about Brian, I just didn't know what it was.
Brian's Apgar scores were 6, then 7 – both times receiving a 0 for muscle tone. Brian's lungs weren't fully developed so he stayed in the hospital for 3 weeks. He had two episodes where he aspirated into his lungs – antibiotics cleared them up. Since he was a preemie, my doctor recommended I bring him to Early Intervention, which I did a week after taking him home. EI didn't notice any issues, told me he was adorable (blue eyes and red hair) and to take him home and enjoy him. For the first 6 months, Brian slept a lot (much more than his brother had). He would also suddenly flex his arms, shaking them for a moment. My pediatrician commented that it was a 'startle reflex' and said it was a sign of an immature nervous system. I wasn't entirely convinced but my older son had a friend over whose mother noticed Brian startling and commented that her son (who was full term and fine) had done the same thing. By month 7, Brian stayed awake more often. Three months later, it was clear to us that language meant nothing to him. I took him back to Early Intervention. To my dismay, they told me he was behind in all areas. Brian started OT and PT lessons. The PT told me his muscle tone was on the low end of normal. I wanted speech lessons as well but for reasons I never understood, EI never agreed.
After never cooing or babbling or rarely making a sound, Brian said his first word around his first birthday. He didn't speak again for 2 months. At 3 years of age, Brian began preschool in our public school system receiving OT, PT and Speech Therapy for the first time. We also had our first visit with a neurologist. I told him that Brian could speak, but he couldn't understand a word I said in real time. He explained the difference between expressive and receptive language, told me Brian had a typical vocabulary for his age and that even though his development might be unusual, a majority of kids in this category are fine in the long run.
Starting at about 18 months, Brian would have 'staring spells' - he would suddenly stop in place, as though frozen for a few seconds, then resume as though it hadn't happened. In the beginning, if I'd call his name, he'd come out of it. By the time he was 5, he was so far away when it happened, calling his name did no good. For years I convinced myself it wasn't seizures. Now I felt I was wrong. I went to a neurologist who ordered a 1 hour sleep deprived EEG. Ten months later at our well visit, I remarked that no news must have meant good news because I never heard how the EEG went. It turned out no one had ever reviewed the results. Being upset, I chased down the neurologist. He immediately offered me a 24 hour ambulatory EEG. Brian was now six and in Kindergarten for the second time. (Since he was obviously behind, we decided to hold him back just this once.) Brian was fitted with the equipment and sent off to school. I made sure he had a typical day. During OT time we rolled him in a barrel because spinning seemed to set off staring spells. Every time he stared, I pressed a button which marked the EEG so they could find the event later. This time I met with the neurologist to go over the results. No seizures, though he did remark that Brian had more alpha waves when conscious than is typical. Brian was tested for Muscular Dystrophy at 24 months – negative. He began walking at 26 months. He was tested for Fragile X at 5 – negative. We saw a neuropsychologist when Brian was 7 and again at 8. He felt that Brian acted like someone with a seizure disorder. He told me reading would be difficult as he scored so poorly on the predecoding test. Brian showed him that he had already started decoding words. Since Brian was inattentive and distractable, we tried Ritalin in different forms and dosages when he was 6. I felt it was making him noticeably worse, so after 12 months we stopped. Every doctor we met told me Brian was unusual – they had never met anyone quite like him. We got 1 hr sleep deprived EEGs again at 9 and 12 triggered by concerns of plateauing development and MRIs when he was 8 and 15.
When Brian was 14, his school called me. Brian seemed disoriented and couldn't recall that he had been at school all day. Back for another 1 hr sleep deprived EEG, this one showing the briefest of blips. Since previous EEGs had never shown evidence of seizures, we had never kept the same neurologist. I was referred to Dr. Ron Thibert, a Pediatric Epileptologist, at MGH. Let's just say I came off as a wee bit assertive, insisting on a multi-day EEG done at the hospital. He stopped in before going home for the evening. No seizures. Next morning he stopped back in, took one look and said 'so that's what's going on'. Brian had CSWS (continuous spikes and waves while sleeping) 70% of the time he was in slow sleep. It's rare – less than 1% of all people with seizures have this type. It's usually accompanied by other types of seizures during the day, but that did not seem to be the case for Brian. He was put on Keppra immediately. Two years later we added Lamotrigine. By 18, Brian's seizures stopped. Over time his staring spells have almost vanished. It is hard to say if the medication helped. Brian is much more present now, though gains continue to come slowly.
When Brian was identified as having CSWS we were referred to a geneticist. In late 2012, we asked for and received full exome testing. In July 2013 we were told Brian has the de novo R325W variant in the KCNB1 gene, but they could find no information about this mutation. A year later (August 2014) the geneticist called about a recent study done at Northwestern. The KCNB1 mutation had been identified as the source of Brian's developmental issues. After searching for answers for 20 years, Brian has a diagnosis.
Brian is cognitively impaired. He does ok with concrete concepts, but not abstract. His language can vary in rate and articulation, making him a bit difficult to understand. He attends our local public high school in a substantially separate classroom and will age out when he turns 22. We are hoping that he attends a Community Based Day Support program near us, and continues his job as a shopping cart retriever at our local supermarket, working two mornings a week.
That said, Brian is one of the happiest, most likeable people I know. He's quite friendly, remembering the names of most everyone he has ever met. At school, Brian knows everyone, and everyone knows Brian. He loves monster trucks, attending a couple of Monster Jam shows a year. He's an avid Red Sox and Patriots fan, daily wearing one team's shirt or the other depending upon the season. He loves his family and his dog, Rufus, and we love him. … Oh, and the NICU staff that took care of him when he was born was right. Brian is a big boy – 5' 10” and 235lbs.
Brian's Apgar scores were 6, then 7 – both times receiving a 0 for muscle tone. Brian's lungs weren't fully developed so he stayed in the hospital for 3 weeks. He had two episodes where he aspirated into his lungs – antibiotics cleared them up. Since he was a preemie, my doctor recommended I bring him to Early Intervention, which I did a week after taking him home. EI didn't notice any issues, told me he was adorable (blue eyes and red hair) and to take him home and enjoy him. For the first 6 months, Brian slept a lot (much more than his brother had). He would also suddenly flex his arms, shaking them for a moment. My pediatrician commented that it was a 'startle reflex' and said it was a sign of an immature nervous system. I wasn't entirely convinced but my older son had a friend over whose mother noticed Brian startling and commented that her son (who was full term and fine) had done the same thing. By month 7, Brian stayed awake more often. Three months later, it was clear to us that language meant nothing to him. I took him back to Early Intervention. To my dismay, they told me he was behind in all areas. Brian started OT and PT lessons. The PT told me his muscle tone was on the low end of normal. I wanted speech lessons as well but for reasons I never understood, EI never agreed.
After never cooing or babbling or rarely making a sound, Brian said his first word around his first birthday. He didn't speak again for 2 months. At 3 years of age, Brian began preschool in our public school system receiving OT, PT and Speech Therapy for the first time. We also had our first visit with a neurologist. I told him that Brian could speak, but he couldn't understand a word I said in real time. He explained the difference between expressive and receptive language, told me Brian had a typical vocabulary for his age and that even though his development might be unusual, a majority of kids in this category are fine in the long run.
Starting at about 18 months, Brian would have 'staring spells' - he would suddenly stop in place, as though frozen for a few seconds, then resume as though it hadn't happened. In the beginning, if I'd call his name, he'd come out of it. By the time he was 5, he was so far away when it happened, calling his name did no good. For years I convinced myself it wasn't seizures. Now I felt I was wrong. I went to a neurologist who ordered a 1 hour sleep deprived EEG. Ten months later at our well visit, I remarked that no news must have meant good news because I never heard how the EEG went. It turned out no one had ever reviewed the results. Being upset, I chased down the neurologist. He immediately offered me a 24 hour ambulatory EEG. Brian was now six and in Kindergarten for the second time. (Since he was obviously behind, we decided to hold him back just this once.) Brian was fitted with the equipment and sent off to school. I made sure he had a typical day. During OT time we rolled him in a barrel because spinning seemed to set off staring spells. Every time he stared, I pressed a button which marked the EEG so they could find the event later. This time I met with the neurologist to go over the results. No seizures, though he did remark that Brian had more alpha waves when conscious than is typical. Brian was tested for Muscular Dystrophy at 24 months – negative. He began walking at 26 months. He was tested for Fragile X at 5 – negative. We saw a neuropsychologist when Brian was 7 and again at 8. He felt that Brian acted like someone with a seizure disorder. He told me reading would be difficult as he scored so poorly on the predecoding test. Brian showed him that he had already started decoding words. Since Brian was inattentive and distractable, we tried Ritalin in different forms and dosages when he was 6. I felt it was making him noticeably worse, so after 12 months we stopped. Every doctor we met told me Brian was unusual – they had never met anyone quite like him. We got 1 hr sleep deprived EEGs again at 9 and 12 triggered by concerns of plateauing development and MRIs when he was 8 and 15.
When Brian was 14, his school called me. Brian seemed disoriented and couldn't recall that he had been at school all day. Back for another 1 hr sleep deprived EEG, this one showing the briefest of blips. Since previous EEGs had never shown evidence of seizures, we had never kept the same neurologist. I was referred to Dr. Ron Thibert, a Pediatric Epileptologist, at MGH. Let's just say I came off as a wee bit assertive, insisting on a multi-day EEG done at the hospital. He stopped in before going home for the evening. No seizures. Next morning he stopped back in, took one look and said 'so that's what's going on'. Brian had CSWS (continuous spikes and waves while sleeping) 70% of the time he was in slow sleep. It's rare – less than 1% of all people with seizures have this type. It's usually accompanied by other types of seizures during the day, but that did not seem to be the case for Brian. He was put on Keppra immediately. Two years later we added Lamotrigine. By 18, Brian's seizures stopped. Over time his staring spells have almost vanished. It is hard to say if the medication helped. Brian is much more present now, though gains continue to come slowly.
When Brian was identified as having CSWS we were referred to a geneticist. In late 2012, we asked for and received full exome testing. In July 2013 we were told Brian has the de novo R325W variant in the KCNB1 gene, but they could find no information about this mutation. A year later (August 2014) the geneticist called about a recent study done at Northwestern. The KCNB1 mutation had been identified as the source of Brian's developmental issues. After searching for answers for 20 years, Brian has a diagnosis.
Brian is cognitively impaired. He does ok with concrete concepts, but not abstract. His language can vary in rate and articulation, making him a bit difficult to understand. He attends our local public high school in a substantially separate classroom and will age out when he turns 22. We are hoping that he attends a Community Based Day Support program near us, and continues his job as a shopping cart retriever at our local supermarket, working two mornings a week.
That said, Brian is one of the happiest, most likeable people I know. He's quite friendly, remembering the names of most everyone he has ever met. At school, Brian knows everyone, and everyone knows Brian. He loves monster trucks, attending a couple of Monster Jam shows a year. He's an avid Red Sox and Patriots fan, daily wearing one team's shirt or the other depending upon the season. He loves his family and his dog, Rufus, and we love him. … Oh, and the NICU staff that took care of him when he was born was right. Brian is a big boy – 5' 10” and 235lbs.