Sydney was born in March, 2011. She was the product of a normal pregnancy and normal delivery. Sydney is the second born of our four children. To date, there are no issues noticed in any of our other children.
Going as far back as infancy, I noticed Sydney spit up a lot. I started getting concerned at approximately 2 months old, but our pediatrician at the time assured me that she just had an underdeveloped esophagus. The spit up continued for months and months. Our pediatrician told me that she was fine, but you know when you have that feeling in your gut that something is not right? I guess one could say it was mother's intuition. After a few months, I switched pediatrician's to get a second opinion and that was when the ball started rolling. First, I found out that Sydney had been suffering from severe acid reflux and needed medication immediately. I was also concerned because she seemed like she was not progressing as I had remembered my first child, Nicholas, had. It felt like there were many developmental milestones that she was missing. Many people told me that I shouldn’t compare the two children because every child is different and they develop differently but, I couldn’t shake that feeling in my gut that something wasn’t right. When it came to her development, the new pediatrician agreed that she might be behind in some areas and it was at that time that I learned about New York State’s Early Intervention Program. There was a whole process we had to go through to get her help, so I jumped right in with urgency. Sydney was evaluated by the Early Intervention team at 10 months old and as fate would have it she had her first seizure a few days prior, but I’ll talk more about her seizures in a minute. Now, at the evaluation I learned that her gross motor skills were pretty delayed because she was scoring at the level of a 4 to 5 month old at 10 months old due to not rolling over and sitting up only with support, etc. She qualified for PT services and those began shortly after. I had her re-evaluated for fine motor and speech when she was 15 months old. She qualified for OT services for her fine motor delays and sensory issues. At that time, however, her speech scored within a few points so she didn’t get speech but they came back at 18 months and that's when she qualified. By the time Sydney was 2, she had 4 different therapists who we met with 7 times a week. It was pretty intense considering my oldest Nicholas was not in school full time yet and I had just given birth to my third child, Sienna.
Now back to the seizure, Sydney had her first seizure at 10 months old. We were assured by the doctors that it was just a fever induced seizure; they call those febrile seizures. Apparently, these types of seizures are not uncommon in children, 1 in 4 get them, and they are supposed to out grow them by approximately age 5. But, I was getting that feeling in my gut again. I just wasn’t comfortable with the doctor's explanation. I couldn’t wrap my head around the fact that this was not causing any damage to Sydney. So, I took her to see her first Neurologist and because of her developmental delays the doctor ordered an EEG. She was just over a year old. The EEG came back normal and she proceeded to have 4 more febrile seizures over the next year and a half.
As a baby/toddler, we initially looked at Sydney’s hearing due to her obvious struggles with speech, her audiological evaluation was inconclusive so we proceeded to have an ABR test performed; results were normal. Per the observation of her Neurologist, Sydney showed signs of Torticollis and Ankle Clonus, so that resulted in the first MRI of her Brain and Spine, at about 18 months old. She then had another at 5; both came back normal. Early on, she began showing obvious signs of sensory issues with things like hair brushing, squishing things (like food) all the time, throwing herself on the floor even when she was happy, wanting to but then getting extremely scared, when she was spun or swung, she tends to overstuff her mouth when eating, she can be extremely sensitive to loud sounds, and it seemed that her regulation for determining hot versus cold as well as her pain threshold were a bit off. We later found out that this was called Sensory Processing Disorder.
Per the suggestion of her Physical Therapist at age 2 and a half, Sydney began wearing AFOs which were braces to help stabilize her because she presented with balance and coordination issues and her calf muscles were quite stiff, which resulted in her walking on her toes often. Sydney was in the braces for a little over a year and a half. They seemed to help, however, after a while you could tell she was beginning to plateau. Observing how she navigated terrain in them compared to out of them, there really was not a significant difference so we have since discontinued use. Before she started Kindergarten, Sydney began riding a tricycle, jumping through hula hoops, roller skating and riding a scooter; we are so thankful for her persistence and strength.
At almost 3, Sydney’s Neurologist at the time thought that she may have Dopa-Responsive Dystonia, which is a Dopamine Deficiency, so we were encouraged to do a Synthetic Dopamine trial. This was a very difficult decision for her father and I because of the possible side effects of the drug. Ultimately, we decided it was in her best interest to do the trial. After approximately 3 months, it did not seem to be helping her, so with the help of the doctor, we weaned her off the medication. By age 3, Sydney qualified to go to a Special Ed Preschool and received all of her services there, which made a world of difference for her. It took some adjustment, but she really did thrive in such a structured setting. Sydney continued to make small and steady gains, but they were slow. At age 4, she went under anesthesia again to have her tongue tie snipped. We had noticed that she had a slight tongue tie, but the ENT was not initially convinced that it was affecting her speech. After a few follow ups and minimal improvements on her speech with therapy, the doctor decided that we should snip it. He warned us that it may not solve her speech issues, but he was pretty confident that it should help a little. It wasn’t long at all that we noticed a big improvement in her annunciation. Unfortunately, Sydney’s overall oral motor skills are weak so movement of her tongue and lips are not as strong as we would like, but she’s making gains and that's what counts.
We also did a series of Standard Genetic Testing which consisted of Metabolic Testing, Fragile X, Amino Acids Analysis, Chromosomes Analysis and Microarray. All of these test came back normal. It wasn’t until Sydney turned 5 that she had experienced what I would categorize as a traumatic injury. The very next day she had her first seizure that was not associated with a fever. Sydney proceeded to have a total of 4 seizures, each presenting slightly different (they were a combination of absence and complex partial seizures), over the course of an 8 day period. We got in to see a Neurologist immediately. The in-office EEG showed some abnormal discharges (L>R) and Sydney was diagnosed with Epilepsy that day. We were instructed to begin her on Keppra immediately. The doctor also scheduled her to have an overnight VEEG and an MRI of the brain with and without contrast per Epileptic protocol. As stated above, the MRI came back normal, however, the VEEG showed frequent sleep-potentiated epileptic-form discharges. These discharges were mostly found in the left central region but were also seen in the right and left temporal regions. Next, we met with the Genetic Research team. Sydney, her father and myself all participated in a genetic research study called Whole Exome Sequencing. When the results came back, in February, 2017, we learned that Sydney had a rare de novo mutation of the KCNB1 gene. At that time she was the 12th reported case worldwide, as of late 2019 there are almost 90 known cases.
Sydney has been on Keppra since age 5. We have been blessed to have her seizures "under control" - for the most part - with only Keppra. In the last 3 1/2 years Sydney has had <10 breakthrough seizures. We have yet to capture seizure activity on an EEG or VEEG but Sydney continues to have abnormal brain activity especially at night. However, she continues to make gains - they are slow but steady. As Sydney has gotten older her emotional regulation and behavioral issues have seemed to take the forefront. We have added a Neuropsychologist to our team to help us work with managing her behaviors and outbursts. We introduced Abilify about a year ago and it has made a world of difference for us, especially at home where we were seeing a bulk of these outbursts. They are not gone but they are much more manageable. As we look ahead, we hope that Sydney will get approved for services from the Office of People With Developmental Disabilities (OWPDD which is New York State-funded family support services) so that we can get her ABA therapy and additional therapy services in our home. We are just so thankful for our community, specifically our school district, they continue to work with us on Sydney's academic, social, and emotional needs.
A few interesting things that we have noticed about Sydney which may or may not be related to her condition:
At the end of the day, Sydney is a loving and compassionate little girl. She is extremely social, loves giving hugs and is the best snuggler. Anything musical has a profound effect on her; she loves to sing and dance. Sydney is very active; she loves to run, jump and play outside. She loves to eat and has a pretty mature palette for an 8 year old. We are so thankful to finally have an explanation for all of Sydney's struggles but, as parents we really just hate to see her struggle at all. We continue to remain grounded in our faith and have hope for the future.
While our main priority remains to be advocating for Sydney's needs, our secondary priority has been to spread awareness for KCNB1 and shine a light on what our warriors go through day-to-day. We have created a Facebook page to share Sydney's story (https://www.facebook.com/SydneysKCNB1Story/) and hope that it will help connect us with others who are fighting this fight. We hope to stand together and raise our voices to make an impact for this very rare condition.
Going as far back as infancy, I noticed Sydney spit up a lot. I started getting concerned at approximately 2 months old, but our pediatrician at the time assured me that she just had an underdeveloped esophagus. The spit up continued for months and months. Our pediatrician told me that she was fine, but you know when you have that feeling in your gut that something is not right? I guess one could say it was mother's intuition. After a few months, I switched pediatrician's to get a second opinion and that was when the ball started rolling. First, I found out that Sydney had been suffering from severe acid reflux and needed medication immediately. I was also concerned because she seemed like she was not progressing as I had remembered my first child, Nicholas, had. It felt like there were many developmental milestones that she was missing. Many people told me that I shouldn’t compare the two children because every child is different and they develop differently but, I couldn’t shake that feeling in my gut that something wasn’t right. When it came to her development, the new pediatrician agreed that she might be behind in some areas and it was at that time that I learned about New York State’s Early Intervention Program. There was a whole process we had to go through to get her help, so I jumped right in with urgency. Sydney was evaluated by the Early Intervention team at 10 months old and as fate would have it she had her first seizure a few days prior, but I’ll talk more about her seizures in a minute. Now, at the evaluation I learned that her gross motor skills were pretty delayed because she was scoring at the level of a 4 to 5 month old at 10 months old due to not rolling over and sitting up only with support, etc. She qualified for PT services and those began shortly after. I had her re-evaluated for fine motor and speech when she was 15 months old. She qualified for OT services for her fine motor delays and sensory issues. At that time, however, her speech scored within a few points so she didn’t get speech but they came back at 18 months and that's when she qualified. By the time Sydney was 2, she had 4 different therapists who we met with 7 times a week. It was pretty intense considering my oldest Nicholas was not in school full time yet and I had just given birth to my third child, Sienna.
Now back to the seizure, Sydney had her first seizure at 10 months old. We were assured by the doctors that it was just a fever induced seizure; they call those febrile seizures. Apparently, these types of seizures are not uncommon in children, 1 in 4 get them, and they are supposed to out grow them by approximately age 5. But, I was getting that feeling in my gut again. I just wasn’t comfortable with the doctor's explanation. I couldn’t wrap my head around the fact that this was not causing any damage to Sydney. So, I took her to see her first Neurologist and because of her developmental delays the doctor ordered an EEG. She was just over a year old. The EEG came back normal and she proceeded to have 4 more febrile seizures over the next year and a half.
As a baby/toddler, we initially looked at Sydney’s hearing due to her obvious struggles with speech, her audiological evaluation was inconclusive so we proceeded to have an ABR test performed; results were normal. Per the observation of her Neurologist, Sydney showed signs of Torticollis and Ankle Clonus, so that resulted in the first MRI of her Brain and Spine, at about 18 months old. She then had another at 5; both came back normal. Early on, she began showing obvious signs of sensory issues with things like hair brushing, squishing things (like food) all the time, throwing herself on the floor even when she was happy, wanting to but then getting extremely scared, when she was spun or swung, she tends to overstuff her mouth when eating, she can be extremely sensitive to loud sounds, and it seemed that her regulation for determining hot versus cold as well as her pain threshold were a bit off. We later found out that this was called Sensory Processing Disorder.
Per the suggestion of her Physical Therapist at age 2 and a half, Sydney began wearing AFOs which were braces to help stabilize her because she presented with balance and coordination issues and her calf muscles were quite stiff, which resulted in her walking on her toes often. Sydney was in the braces for a little over a year and a half. They seemed to help, however, after a while you could tell she was beginning to plateau. Observing how she navigated terrain in them compared to out of them, there really was not a significant difference so we have since discontinued use. Before she started Kindergarten, Sydney began riding a tricycle, jumping through hula hoops, roller skating and riding a scooter; we are so thankful for her persistence and strength.
At almost 3, Sydney’s Neurologist at the time thought that she may have Dopa-Responsive Dystonia, which is a Dopamine Deficiency, so we were encouraged to do a Synthetic Dopamine trial. This was a very difficult decision for her father and I because of the possible side effects of the drug. Ultimately, we decided it was in her best interest to do the trial. After approximately 3 months, it did not seem to be helping her, so with the help of the doctor, we weaned her off the medication. By age 3, Sydney qualified to go to a Special Ed Preschool and received all of her services there, which made a world of difference for her. It took some adjustment, but she really did thrive in such a structured setting. Sydney continued to make small and steady gains, but they were slow. At age 4, she went under anesthesia again to have her tongue tie snipped. We had noticed that she had a slight tongue tie, but the ENT was not initially convinced that it was affecting her speech. After a few follow ups and minimal improvements on her speech with therapy, the doctor decided that we should snip it. He warned us that it may not solve her speech issues, but he was pretty confident that it should help a little. It wasn’t long at all that we noticed a big improvement in her annunciation. Unfortunately, Sydney’s overall oral motor skills are weak so movement of her tongue and lips are not as strong as we would like, but she’s making gains and that's what counts.
We also did a series of Standard Genetic Testing which consisted of Metabolic Testing, Fragile X, Amino Acids Analysis, Chromosomes Analysis and Microarray. All of these test came back normal. It wasn’t until Sydney turned 5 that she had experienced what I would categorize as a traumatic injury. The very next day she had her first seizure that was not associated with a fever. Sydney proceeded to have a total of 4 seizures, each presenting slightly different (they were a combination of absence and complex partial seizures), over the course of an 8 day period. We got in to see a Neurologist immediately. The in-office EEG showed some abnormal discharges (L>R) and Sydney was diagnosed with Epilepsy that day. We were instructed to begin her on Keppra immediately. The doctor also scheduled her to have an overnight VEEG and an MRI of the brain with and without contrast per Epileptic protocol. As stated above, the MRI came back normal, however, the VEEG showed frequent sleep-potentiated epileptic-form discharges. These discharges were mostly found in the left central region but were also seen in the right and left temporal regions. Next, we met with the Genetic Research team. Sydney, her father and myself all participated in a genetic research study called Whole Exome Sequencing. When the results came back, in February, 2017, we learned that Sydney had a rare de novo mutation of the KCNB1 gene. At that time she was the 12th reported case worldwide, as of late 2019 there are almost 90 known cases.
Sydney has been on Keppra since age 5. We have been blessed to have her seizures "under control" - for the most part - with only Keppra. In the last 3 1/2 years Sydney has had <10 breakthrough seizures. We have yet to capture seizure activity on an EEG or VEEG but Sydney continues to have abnormal brain activity especially at night. However, she continues to make gains - they are slow but steady. As Sydney has gotten older her emotional regulation and behavioral issues have seemed to take the forefront. We have added a Neuropsychologist to our team to help us work with managing her behaviors and outbursts. We introduced Abilify about a year ago and it has made a world of difference for us, especially at home where we were seeing a bulk of these outbursts. They are not gone but they are much more manageable. As we look ahead, we hope that Sydney will get approved for services from the Office of People With Developmental Disabilities (OWPDD which is New York State-funded family support services) so that we can get her ABA therapy and additional therapy services in our home. We are just so thankful for our community, specifically our school district, they continue to work with us on Sydney's academic, social, and emotional needs.
A few interesting things that we have noticed about Sydney which may or may not be related to her condition:
- She sleeps a lot and she still naps. Approximately 11 hours at night and then she will take 2 (sometimes 3) 45-min naps a day.
- Sydney also does odd things with her voice. She has a very raspy voice due to vocal nodules, but she will often talk in a high pitched voice or just simply make high pitch sounds for seemingly no reason. She also tends to talk or sing in a deep voice, which we call her monster voice. We are constantly reminding her to speak or sing in her big girl voice and use words not noises to tell us things.
- She can be extremely irritable. Sydney is the happiest, most lovable little girl, but then a switch goes off and she is angry at the world. Usually when these mood swings occur, it is very hard to reason with her.
- Sydney often drools and needs to be reminded to have “stiff lips” or to “suck in her spit.” - (This increased with the Abilify.)
- She tends to move faster then her body is capable of carrying her, which often results in a fall or collision. And she doesn’t seem to be aware of her body in space and time.
- Sydney seems to have a few forms of Visual Processing Disorder. - (This is something we are currently looking into further.)
- I should also mention, between the ages of 3 and 4, she suffered from chronic diarrhea. We could not understand why her belly was so sensitive. After altering her food in a variety of ways, we learned she has a dairy intolerance. She is now on a restricted diet but still has a sensitive stomach.
At the end of the day, Sydney is a loving and compassionate little girl. She is extremely social, loves giving hugs and is the best snuggler. Anything musical has a profound effect on her; she loves to sing and dance. Sydney is very active; she loves to run, jump and play outside. She loves to eat and has a pretty mature palette for an 8 year old. We are so thankful to finally have an explanation for all of Sydney's struggles but, as parents we really just hate to see her struggle at all. We continue to remain grounded in our faith and have hope for the future.
While our main priority remains to be advocating for Sydney's needs, our secondary priority has been to spread awareness for KCNB1 and shine a light on what our warriors go through day-to-day. We have created a Facebook page to share Sydney's story (https://www.facebook.com/SydneysKCNB1Story/) and hope that it will help connect us with others who are fighting this fight. We hope to stand together and raise our voices to make an impact for this very rare condition.