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Zachary was born on June 28th, 2009. He is now 8 years old. I was 31 years old when I gave birth to Zachary. It was a natural birth and he breast fed immediately and we went home in two days from the hospital. He was a very calm and easy baby. Zachary has a 14 year old brother who is healthy and such a good kid!! He loves his brother and has grown to be more mature and patient than the average 14 year old boy, because of having Zachary as a sibling. Zachary started daycare at 3 months old and they always raved about how good he was. At the age of nine months, Zachary had his first seizure. During this seizure his lips turned blue and he stopped breathing for a period of time. We went to the hospital and they called it a febrile seizure, because Zachary had bronchitis at the time. They told me that it happens often, especially with boys, not to worry, and it might never happen again. At Zach’s 9 month check up, the pediatrician noticed that he was not sitting independently yet and she asked me to have him evaluated by early intervention and they said he was just a little behind and that he would catch up. They offered PT twice a week in my home. Over the next year, Zachary experienced four more seizures that seemed to be related to illness. He received and still does OT, PT and speech therapies.
Zachary’s development was still behind, but I was relieved to not see any more seizures. From the ages of 24months to present until he was 7 years old, I have not SEEN any seizures similar to what he had when he was younger. Although, there have been periods of unresponsiveness, eye blinking, awkward movements. Although, in April of 2017, he woke up and sat up and had a seizure. The neurologist upped his Depakote and he went back to normal in about 4 days. When Zachary was five years old my husband and I realized that Zachary was not growing out of this delay in development. We were referred by neurology to genetics at CHOP. They took my husband’s and my blood and Zachary’s and did a whole exome sequencing test. We waited a year and a half, and then got a call that Zachary had a KCNB1 mutation on chromosome 20 and that his mutation was on the opposite side of the others, whom had the same mutation. So his location of the mutation was not located in the same area as the other cases. He was given a diagnosis of ASD, ADHD and Intellectual Disability. These symptoms are a result of the mutation. He does not have any other medical issues with his body. The main symptom that Zachary suffers from is the lack of speech, still not potty trained, elopement issues, unaware of danger, needs constant monitoring and supervision at ALL times.
Until Zachary was given his diagnosis from genetics, we did not see any seizures. After the diagnosis, the neurologist had us do an overnight EEG, in which he had 2 major seizures while he was sleeping. The doctors started him on Depakote and now he takes 2 capsules in the morning and 3 at night time, totaling 625 milligrams a day. He also takes Chlonidine at night to help him settle for bed, so he does not get manic.
Zachary’s biggest battle is his lack of independence and self help skills. His behaviors when upset or frustrated can be very severe; head banging on wall, biting, pinching, and hitting himself in the head. He has a stim too; he puts his two hands together and rubs his fingers against his palms in a fast motion. It is different from most of the usual stims, like hand flapping. He also has a hard time with transitions. He is gaining maturity and intellectual abilities every day. He understands more than he can express. He is the most loveable and affectionate kid when he knows you and trusts you. He can say Mama, Dada, bruber, I go car, ba (for balloon), and several other words. He cannot tell me about his day nor have a conversation. He loves balls and balloons and cars. He enjoys animals too.
Zachary is 5 days a week residential at the Camphill Special School in Glenmoore, PA. It is only half an hour from our house. He is home every weekend, holidays and for 7 weeks in the summer. They have a routine and staff that I cannot replicate. He is learning so much and it shows at home. Zachary also has a nurse who comes from an outside agency to the school Monday-Friday to be with him from 9-6. The nurse helps to monitor his health and needs and is there in case a seizure should occur. It is a wonderful school and we feel blessed that he is part of the Camphill Community. The public schools were not able to accommodate Zachary’s needs, so that is why he is at Camphill.
Zachary has taught our family many things. The first one is being able to appreciate the small milestones that he reaches. At 8 years old, saying a new word, using the potty, waiting his turn, helping dress himself and controlling his impulse to want to touch everything!!! And many more!!! The biggest one he has taught us is love and patience and we are thankful for the people in his life that help him; school, therapists, nurses, home aides. These people help monitor Zach’s needs and help ensure his safety. His smile can win almost anyone over!!!!
Zachary’s development was still behind, but I was relieved to not see any more seizures. From the ages of 24months to present until he was 7 years old, I have not SEEN any seizures similar to what he had when he was younger. Although, there have been periods of unresponsiveness, eye blinking, awkward movements. Although, in April of 2017, he woke up and sat up and had a seizure. The neurologist upped his Depakote and he went back to normal in about 4 days. When Zachary was five years old my husband and I realized that Zachary was not growing out of this delay in development. We were referred by neurology to genetics at CHOP. They took my husband’s and my blood and Zachary’s and did a whole exome sequencing test. We waited a year and a half, and then got a call that Zachary had a KCNB1 mutation on chromosome 20 and that his mutation was on the opposite side of the others, whom had the same mutation. So his location of the mutation was not located in the same area as the other cases. He was given a diagnosis of ASD, ADHD and Intellectual Disability. These symptoms are a result of the mutation. He does not have any other medical issues with his body. The main symptom that Zachary suffers from is the lack of speech, still not potty trained, elopement issues, unaware of danger, needs constant monitoring and supervision at ALL times.
Until Zachary was given his diagnosis from genetics, we did not see any seizures. After the diagnosis, the neurologist had us do an overnight EEG, in which he had 2 major seizures while he was sleeping. The doctors started him on Depakote and now he takes 2 capsules in the morning and 3 at night time, totaling 625 milligrams a day. He also takes Chlonidine at night to help him settle for bed, so he does not get manic.
Zachary’s biggest battle is his lack of independence and self help skills. His behaviors when upset or frustrated can be very severe; head banging on wall, biting, pinching, and hitting himself in the head. He has a stim too; he puts his two hands together and rubs his fingers against his palms in a fast motion. It is different from most of the usual stims, like hand flapping. He also has a hard time with transitions. He is gaining maturity and intellectual abilities every day. He understands more than he can express. He is the most loveable and affectionate kid when he knows you and trusts you. He can say Mama, Dada, bruber, I go car, ba (for balloon), and several other words. He cannot tell me about his day nor have a conversation. He loves balls and balloons and cars. He enjoys animals too.
Zachary is 5 days a week residential at the Camphill Special School in Glenmoore, PA. It is only half an hour from our house. He is home every weekend, holidays and for 7 weeks in the summer. They have a routine and staff that I cannot replicate. He is learning so much and it shows at home. Zachary also has a nurse who comes from an outside agency to the school Monday-Friday to be with him from 9-6. The nurse helps to monitor his health and needs and is there in case a seizure should occur. It is a wonderful school and we feel blessed that he is part of the Camphill Community. The public schools were not able to accommodate Zachary’s needs, so that is why he is at Camphill.
Zachary has taught our family many things. The first one is being able to appreciate the small milestones that he reaches. At 8 years old, saying a new word, using the potty, waiting his turn, helping dress himself and controlling his impulse to want to touch everything!!! And many more!!! The biggest one he has taught us is love and patience and we are thankful for the people in his life that help him; school, therapists, nurses, home aides. These people help monitor Zach’s needs and help ensure his safety. His smile can win almost anyone over!!!!
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