Dominic
Dominic Matthew Rebbecchi was born September 2010. When Dominic was 5 months old he began having short episodes of rapid eye movements with a one- sided gaze. This happened twice in a month’s time and we saw a Neurologist at Cooper University Hospital in Camden, NJ. He was not medicated at the time. His Neurologist ordered an MRI and a 5 day ambulatory EEG. Both were normal. On May 5th 2011 Dominic had a grand mal seizure. This was his first and only one to date. We were then started on Keppra. In the mean time Dominic seemed to be reaching appropriate milestones.
The rapid eye movements progressed to rapid eye movements coupled with weakness of the whole body and lip smacking. It always would seem to happen at mealtime in his high chair. We would have periods of time where there would be no “seizure” activity and then we would have a hard few months. At 12 months of age I started worrying about Dominic not babbling and not pulling himself up to walk. He also never seemed to be able to entertain himself. He couldn’t even sit in a bouncy seat for a few minutes by himself to play. The pediatrician was not concerned about development nor was his neurologist. Dominic walked at 18 months of age but not well. Very unbalanced and many falls. He also was not speaking, only making non-verbal gestures and “huh” sounds for things he wanted. I began seeking physical therapy and speech therapy. Although we probably needed occupational therapy as well, his fine motor deficits never seemed to be as remarkable.
Dominic’s seizure activity than progressed to left sided weakness episodes (as if he had had a stroke) and episodes in which he would not be able to move his body at all. He might lean to one side and not be able to hold himself up, his gait would worsen, and he would get pale and agitated. Again I always noticed this was worse at meal times and he would be better after eating a meal or drinking milk. Lamictal was then added along with the Keppra. My biggest concern began to be how Dominic’s milestones would regress after a seizure. He would finally learn to do something, have a seizure, and not be able to do it again for a period of time. Dominic’s Neurologist was concerned about this as well and decided to do a metabolic lab work-up. We had another negative MRI and negative 3 day EEG. Dominic had abnormal metabolic lab studies but nothing that would correlate with any specific condition. It was suggested to us that we see a Developmental Pediatrician for an evaluation as well. This evaluation showed the delays we already knew about and nothing more. We began feeling like Dominic was just going to be who he was. We needed to stop looking. But I never felt completely comfortable with having abnormal metabolic labs and not getting another opinion. So we saw Metabolic/Genetic specialists at Children’s Hospital of Philadelphia, had genetic lab testing performed and Dominic was diagnosed with GLUT 1 in July 2013. An LP supported the diagnosis.
This news was both devastating and a relief at the same time. We started the ketogenic diet in September of 2013 and he has made miraculous progress. Some improvements came immidietly and others took some time. His attention span was the first thing to improve. Initially his posture is more relaxed and he didn't look "hazed " anymore. He was finally able to try and do the things a 3yr old should be able to do. Now Dominic's gait is completely normal when walking and slightly ataxic when running. He does have a tendency to fall but much less then he used too. Self feeding is always a struggle but not because he can not do it, more so he doesn't want too. Dominic is now full of life and energy. His speech and verbal abilities have exploded. He speaks like a normal 7 year old. Normal vocabulary with some articulation delays. Dominic built a castle out of blocks 7 days after being on the diet. He had never done this before. Now he build lego sets! Dominic is in first grade and reading on a first grade level. His math skills are at 1st grade level as well. He is a learning disabled classroom because he learns differently or sometimes a little slower then other kids. He struggled with writing and fatigues quickly. He has good days and bad days, but mostly good days. Sometimes if he is sick, or for sometimes unknown reasons, his left leg will appear weak. His gait will be altered and he will seem like he is having a hard time performing all functions. Usually hydration and feeding him will help and then the symptoms will pass within a day or two. The difference for us on the keto diet is that after Dominic has an "episode" his milestones do not regress as they did prior to the keto diet. I would say our biggest struggle with Dominic is that he is easily fatigued by exercise; especially walking long distances. Heat seems to make this even worse. We do not let this stop us. We find ways for Dominic to participate in everything. We choose indoor activities when it is hot out and we use a stroller/wheelchair for when he can't walk a long distance.
Dominic is the bravest boy we know. We can’t imagine what he has gone through in his early years of life and how unbelievably happy and loving he has been. He rarely gets frustrated when trying to communicate, he loves being with other children, and when he can't do something because of his disabilities he either lets it go or tries to do it again.
Looking back and now understanding his diagnosis, there were clues since birth. I nursed him for 5 months and Dominic over fed. He was hungry every 30 minutes to 1 hour (even at night). I stopped nursing because of this and thought that bottle-feeding would help. This is when he began having seizures. Over time Dominic was a grazer, in the cabinets and looking for food all the time. His body was requiring glucose more often than normal to help get more glucose to the brain. Our Neurologist now thinks that most of Dominic’s “seizures” must have been hypoglycemic episodes of the brain.
Dominic is an incredible little boy who seems to accept anything, fights for everything, and is truly the focus of our lives and the drive to get us out of bed in the morning. He loves his family. He especially loves his sister Iris, his dog Ruby, and his trains! His sister (who is now 14) has been unbelievably nurturing to Dominic. She lives and breathes for him and wants nothing more than his love. He has changed our lives in countless ways. We have embraced the challenges we were given in life and want to make nothing but the best of our journey. Our family focus's on our blessings and positivity. It may be challenging and sorrowful at times, but we are hopeful Dominic will continue to flourish and touch the hearts of everyone he meets.
Tom and Maria Rebbecchi
Pine Hill, NJ
The rapid eye movements progressed to rapid eye movements coupled with weakness of the whole body and lip smacking. It always would seem to happen at mealtime in his high chair. We would have periods of time where there would be no “seizure” activity and then we would have a hard few months. At 12 months of age I started worrying about Dominic not babbling and not pulling himself up to walk. He also never seemed to be able to entertain himself. He couldn’t even sit in a bouncy seat for a few minutes by himself to play. The pediatrician was not concerned about development nor was his neurologist. Dominic walked at 18 months of age but not well. Very unbalanced and many falls. He also was not speaking, only making non-verbal gestures and “huh” sounds for things he wanted. I began seeking physical therapy and speech therapy. Although we probably needed occupational therapy as well, his fine motor deficits never seemed to be as remarkable.
Dominic’s seizure activity than progressed to left sided weakness episodes (as if he had had a stroke) and episodes in which he would not be able to move his body at all. He might lean to one side and not be able to hold himself up, his gait would worsen, and he would get pale and agitated. Again I always noticed this was worse at meal times and he would be better after eating a meal or drinking milk. Lamictal was then added along with the Keppra. My biggest concern began to be how Dominic’s milestones would regress after a seizure. He would finally learn to do something, have a seizure, and not be able to do it again for a period of time. Dominic’s Neurologist was concerned about this as well and decided to do a metabolic lab work-up. We had another negative MRI and negative 3 day EEG. Dominic had abnormal metabolic lab studies but nothing that would correlate with any specific condition. It was suggested to us that we see a Developmental Pediatrician for an evaluation as well. This evaluation showed the delays we already knew about and nothing more. We began feeling like Dominic was just going to be who he was. We needed to stop looking. But I never felt completely comfortable with having abnormal metabolic labs and not getting another opinion. So we saw Metabolic/Genetic specialists at Children’s Hospital of Philadelphia, had genetic lab testing performed and Dominic was diagnosed with GLUT 1 in July 2013. An LP supported the diagnosis.
This news was both devastating and a relief at the same time. We started the ketogenic diet in September of 2013 and he has made miraculous progress. Some improvements came immidietly and others took some time. His attention span was the first thing to improve. Initially his posture is more relaxed and he didn't look "hazed " anymore. He was finally able to try and do the things a 3yr old should be able to do. Now Dominic's gait is completely normal when walking and slightly ataxic when running. He does have a tendency to fall but much less then he used too. Self feeding is always a struggle but not because he can not do it, more so he doesn't want too. Dominic is now full of life and energy. His speech and verbal abilities have exploded. He speaks like a normal 7 year old. Normal vocabulary with some articulation delays. Dominic built a castle out of blocks 7 days after being on the diet. He had never done this before. Now he build lego sets! Dominic is in first grade and reading on a first grade level. His math skills are at 1st grade level as well. He is a learning disabled classroom because he learns differently or sometimes a little slower then other kids. He struggled with writing and fatigues quickly. He has good days and bad days, but mostly good days. Sometimes if he is sick, or for sometimes unknown reasons, his left leg will appear weak. His gait will be altered and he will seem like he is having a hard time performing all functions. Usually hydration and feeding him will help and then the symptoms will pass within a day or two. The difference for us on the keto diet is that after Dominic has an "episode" his milestones do not regress as they did prior to the keto diet. I would say our biggest struggle with Dominic is that he is easily fatigued by exercise; especially walking long distances. Heat seems to make this even worse. We do not let this stop us. We find ways for Dominic to participate in everything. We choose indoor activities when it is hot out and we use a stroller/wheelchair for when he can't walk a long distance.
Dominic is the bravest boy we know. We can’t imagine what he has gone through in his early years of life and how unbelievably happy and loving he has been. He rarely gets frustrated when trying to communicate, he loves being with other children, and when he can't do something because of his disabilities he either lets it go or tries to do it again.
Looking back and now understanding his diagnosis, there were clues since birth. I nursed him for 5 months and Dominic over fed. He was hungry every 30 minutes to 1 hour (even at night). I stopped nursing because of this and thought that bottle-feeding would help. This is when he began having seizures. Over time Dominic was a grazer, in the cabinets and looking for food all the time. His body was requiring glucose more often than normal to help get more glucose to the brain. Our Neurologist now thinks that most of Dominic’s “seizures” must have been hypoglycemic episodes of the brain.
Dominic is an incredible little boy who seems to accept anything, fights for everything, and is truly the focus of our lives and the drive to get us out of bed in the morning. He loves his family. He especially loves his sister Iris, his dog Ruby, and his trains! His sister (who is now 14) has been unbelievably nurturing to Dominic. She lives and breathes for him and wants nothing more than his love. He has changed our lives in countless ways. We have embraced the challenges we were given in life and want to make nothing but the best of our journey. Our family focus's on our blessings and positivity. It may be challenging and sorrowful at times, but we are hopeful Dominic will continue to flourish and touch the hearts of everyone he meets.
Tom and Maria Rebbecchi
Pine Hill, NJ
