Charlotte was born in September of 2011, in a normal, full term birth. She was born tongue-tied, and nursing was a huge ordeal. At the time, we thought it was because of her tongue tie, but in hindsight we know it was because she wasn’t quite right. At a couple months of age, we noticed that Charlotte would jerk multiple times a day. I brought this to the attention of her pediatrician, but I was told that this was a normal “newborn startle” issue. As the months progressed, I noticed that Charlotte wasn’t as active as our older child, and she wasn’t hitting milestones like our previous child. The doctors all assured me that she was within normal limits, and that we shouldn’t compare the children. I chalked it up to our busy lifestyle. Finally, at 9 months of age I demanded we be evaluated by therapists - she still wasn’t making baby sounds, she wasn’t sitting up, she just wasn’t right. We were evaluated by an early development team and we were barely accepted into the program - she was considered only slightly behind the norm. The “startles” continued, and we were told it was unusual, but nothing to be concerned with. Over the next 4 months, Charlotte made great gains, and caught up with her gross and fine motor skills, began sitting unsupported, and was eating stage 3 baby food with no issues. She was functioning at a 12 month level.
One day when she was 13 months old, I carried Charlotte to the living room after a nap and laid her on the floor next to her sister. She had a “startle”, then another “startle”, and then it just kept on over and over, and she was unresponsive. Living in the country, we had to load the family into the car and meet the EMT’s up in the town at the nearest fire station. By then 20 minutes had passed. The seizure lasted 15 minutes, and she was in a postictal state. I was convinced she was dying, but the EMT’s assured me it was a seizure.
Two days later, I woke Charlotte up early to take her in for an EEG, and she had another Tonic/Clonic seizure lasting 15 minutes. Though the ER had given us emergency Diastat, it did not work for several minutes, if at all. That was really the beginning of our journey
The “startles” were eventually diagnosed as Myoclonic seizures, and as she was having 50-200 per day, the doctors decided that maybe that is what contributed to her slow development. Her MRI and PET scans all showed normal. One of the first terms that got brought up to us was infantile spasm. It was later discounted by EEG. Her EEG was off the charts with strange brainwaves as well as multiple seizures. We were put on Keppra and sent home to chart her seizures and stay in contact as things evolved. Within 2 weeks we regressed from a 12 month level to a 5-8 month level in motor skills and language - and that’s where we have stayed for over 3 years. At the time, I thought it was the seizure drugs to blame for such a sudden regression, but in hindsight I realize it was the seizure activity.
She regressed to, and is still on, a thickened liquid diet, and has trouble with water. Strangely, she has a stunted ability to suck, but no issues swallowing. It has been suggested at points that we introduce a G-tube, but we have refused because we don’t want her to regress further, and lose a skill that she already has. Several doctors have feared aspiration issues, and we have seen several therapists who have verified that she is safe eating the way she is, and a G-tube is unnecessary for safety.
Over the next 6 months we tried a variety of supplements and several drugs; none of which seemed to make a difference. Her seizures got progressively worse. They were often 5 minutes or longer, followed by a postictal phase. I kept a mattress in our living room in a dark corner so I could keep an eye on her while she slept after seizures. She had clusters of seizures - Tonic/Clonic seizures and Myoclonic seizures, and each of them presented a different way. There was no pattern. I did notice that she was prone to having a seizure after she woke up in the morning if I carried her vertically. If I kept her horizontal to carry her, she didn’t seem to have a seizure quite so quickly. I also noticed that abrupt temperature changes could cause seizures. She isn’t so sensitive to environmental changes now, but she is sensitive to changes in her diet and medicine.
She has many strange issues, such as her ability to swallow, but not to suck. She sometimes can sit unsupported for a couple of hours, but other times she is too wobbly to do so, and falls over quickly. She has incredible fine motor skills, but horribly stunted gross motor skills. She doesn’t follow any standards, and often baffles doctors. She has Hypertonia in certain muscles, and Hypotonia in other muscles. She cannot stand, but because we keep her in a bouncer we have been modifying for years, she has developed correctly and has very strong leg muscles. Sometimes she stands perfectly in the bouncer.
Through the years, we followed several leads for a diagnosis. Neurology diagnosed her with Multifocal Intractable Epilepsy of Unknown Etiology. She was diagnosed with provisional Cerebral Palsy for a while. She was diagnosed with Cortical Visual Impairment, scoring very low on the functional scale. Her eyesight, however is perfect - her brain is unable to process what her eyes are seeing. But no answers as to the underlying cause of the seizures and global delays. The Genetics department measured and observed her and ran their tests, and found nothing. They signed us up for an exome sequencing research project, where they would compare Charlotte’s DNA against Mom and Dad’s to see what didn’t translate properly.
She was put on the Ketogenic Diet in April of 2013. For 6 months she had no seizures, but then they came back over a period of a couple weeks. She tends to have a honeymoon period with most drugs. I tried recently to remove her from the diet, but when the ratio got too low, we went into a status seizure, and I had to take her to the ER and have it medically stopped. She did not react to the Lorazepam first given, and she had to be given a very large dose of Keppra to halt the seizure. We immediately raised the ratio on the diet and will continue with this treatment for now.
I took her to a respected Epileptologist at Duke University to have a fresh set of eyes on her when our local children’s hospital had exhausted their options. Her case was then taken to a symposium and we learned new information about how the seizures were spreading, but nothing telling us why they were happening, or how to stop them. By then, surgery was ruled out as well.
18 months after giving our DNA samples, and having given up on finding a genetic cause, the genetic counselor called to say that there was an issue with the KCNB1 gene. This is her only malfunction, but it is a very severe one. Charlotte was the only one found in her study to have it, and at the time there were only 4 known cases. Within the known cases, there are multiple variants.
Charlotte has strange metabolic issues as well, her hands will turn dark purple for no reason, but be warm to the touch, and doesn’t seem to affect her. She gained no weight for over 2 years, despite eating what she was supposed to. Then, without increasing calories, or changing medications, she suddenly started growing, and put on a 30% weight gain in just a few months. She is a tiny 4-1/2 year old at 30 pounds.
She has been observed to have Borderline Long QT. She is followed by Genetic Cardiology, but has been cleared for now of any strange heart rhythms.
Charlotte has been hospitalized twice for sleeplessness. The first time she went 6 days without sleeping at all. She was manic, and absolutely exhausted. The doctors never could figure out why she wouldn’t sleep, but finally found a blood pressure medication that causes drowsiness. Her periods of mania come and go, and she will spend several nights in a row wide awake with very little sleep through the day. But only twice has she been completely unable to sleep. When she has these periods she squeals like she is excited and kicks her legs and waves her arms. Her movements are very large and exaggerated.
Charlotte has a sweet personality, and a wicked sense of humor, she makes us all laugh daily. Since the onset of the seizures she has been unable to develop new skills physically or verbally. She makes noises, squeals with delight, laughs, cries, and screams, she doesn’t make any noises by shaping her mouth. She can’t blow raspberries, or have any control over herself. She loves to explore things with her feet first, her hands will pull up and curl as her brainwaves increase, her feet remain relaxed. She loves to kick people, and is always sending her feet out in different directions to explore the world around her. She arches her back and rolls around the living room, and pushes up with her arms and lifts her head. There doesn’t seem to be a destination in mind as she rolls, but she has gotten very good at it! She is very slow to comfort after she has gotten upset, but doesn’t get upset often. Pain doesn’t always seem to register for her, and she has sat through many blood draws and IV’s without batting an eye. Some seizure activity seems to light up the pleasure center in her brain, and she will smile and laugh soon after the seizure, regardless of what mood she was in before.
Charlotte currently attends a local preschool where she receives OT, PT, Vision Therapy, and Speech therapy. Charlotte has a nurse that helps me care for her throughout the week, and also attends school with her. She loves watching the kids play, and some of the boys in the class will build block towers for her to kick over!
Charlotte currently has:
At this time for Charlotte, the following diagnoses have been identified:
One day when she was 13 months old, I carried Charlotte to the living room after a nap and laid her on the floor next to her sister. She had a “startle”, then another “startle”, and then it just kept on over and over, and she was unresponsive. Living in the country, we had to load the family into the car and meet the EMT’s up in the town at the nearest fire station. By then 20 minutes had passed. The seizure lasted 15 minutes, and she was in a postictal state. I was convinced she was dying, but the EMT’s assured me it was a seizure.
Two days later, I woke Charlotte up early to take her in for an EEG, and she had another Tonic/Clonic seizure lasting 15 minutes. Though the ER had given us emergency Diastat, it did not work for several minutes, if at all. That was really the beginning of our journey
The “startles” were eventually diagnosed as Myoclonic seizures, and as she was having 50-200 per day, the doctors decided that maybe that is what contributed to her slow development. Her MRI and PET scans all showed normal. One of the first terms that got brought up to us was infantile spasm. It was later discounted by EEG. Her EEG was off the charts with strange brainwaves as well as multiple seizures. We were put on Keppra and sent home to chart her seizures and stay in contact as things evolved. Within 2 weeks we regressed from a 12 month level to a 5-8 month level in motor skills and language - and that’s where we have stayed for over 3 years. At the time, I thought it was the seizure drugs to blame for such a sudden regression, but in hindsight I realize it was the seizure activity.
She regressed to, and is still on, a thickened liquid diet, and has trouble with water. Strangely, she has a stunted ability to suck, but no issues swallowing. It has been suggested at points that we introduce a G-tube, but we have refused because we don’t want her to regress further, and lose a skill that she already has. Several doctors have feared aspiration issues, and we have seen several therapists who have verified that she is safe eating the way she is, and a G-tube is unnecessary for safety.
Over the next 6 months we tried a variety of supplements and several drugs; none of which seemed to make a difference. Her seizures got progressively worse. They were often 5 minutes or longer, followed by a postictal phase. I kept a mattress in our living room in a dark corner so I could keep an eye on her while she slept after seizures. She had clusters of seizures - Tonic/Clonic seizures and Myoclonic seizures, and each of them presented a different way. There was no pattern. I did notice that she was prone to having a seizure after she woke up in the morning if I carried her vertically. If I kept her horizontal to carry her, she didn’t seem to have a seizure quite so quickly. I also noticed that abrupt temperature changes could cause seizures. She isn’t so sensitive to environmental changes now, but she is sensitive to changes in her diet and medicine.
She has many strange issues, such as her ability to swallow, but not to suck. She sometimes can sit unsupported for a couple of hours, but other times she is too wobbly to do so, and falls over quickly. She has incredible fine motor skills, but horribly stunted gross motor skills. She doesn’t follow any standards, and often baffles doctors. She has Hypertonia in certain muscles, and Hypotonia in other muscles. She cannot stand, but because we keep her in a bouncer we have been modifying for years, she has developed correctly and has very strong leg muscles. Sometimes she stands perfectly in the bouncer.
Through the years, we followed several leads for a diagnosis. Neurology diagnosed her with Multifocal Intractable Epilepsy of Unknown Etiology. She was diagnosed with provisional Cerebral Palsy for a while. She was diagnosed with Cortical Visual Impairment, scoring very low on the functional scale. Her eyesight, however is perfect - her brain is unable to process what her eyes are seeing. But no answers as to the underlying cause of the seizures and global delays. The Genetics department measured and observed her and ran their tests, and found nothing. They signed us up for an exome sequencing research project, where they would compare Charlotte’s DNA against Mom and Dad’s to see what didn’t translate properly.
She was put on the Ketogenic Diet in April of 2013. For 6 months she had no seizures, but then they came back over a period of a couple weeks. She tends to have a honeymoon period with most drugs. I tried recently to remove her from the diet, but when the ratio got too low, we went into a status seizure, and I had to take her to the ER and have it medically stopped. She did not react to the Lorazepam first given, and she had to be given a very large dose of Keppra to halt the seizure. We immediately raised the ratio on the diet and will continue with this treatment for now.
I took her to a respected Epileptologist at Duke University to have a fresh set of eyes on her when our local children’s hospital had exhausted their options. Her case was then taken to a symposium and we learned new information about how the seizures were spreading, but nothing telling us why they were happening, or how to stop them. By then, surgery was ruled out as well.
18 months after giving our DNA samples, and having given up on finding a genetic cause, the genetic counselor called to say that there was an issue with the KCNB1 gene. This is her only malfunction, but it is a very severe one. Charlotte was the only one found in her study to have it, and at the time there were only 4 known cases. Within the known cases, there are multiple variants.
Charlotte has strange metabolic issues as well, her hands will turn dark purple for no reason, but be warm to the touch, and doesn’t seem to affect her. She gained no weight for over 2 years, despite eating what she was supposed to. Then, without increasing calories, or changing medications, she suddenly started growing, and put on a 30% weight gain in just a few months. She is a tiny 4-1/2 year old at 30 pounds.
She has been observed to have Borderline Long QT. She is followed by Genetic Cardiology, but has been cleared for now of any strange heart rhythms.
Charlotte has been hospitalized twice for sleeplessness. The first time she went 6 days without sleeping at all. She was manic, and absolutely exhausted. The doctors never could figure out why she wouldn’t sleep, but finally found a blood pressure medication that causes drowsiness. Her periods of mania come and go, and she will spend several nights in a row wide awake with very little sleep through the day. But only twice has she been completely unable to sleep. When she has these periods she squeals like she is excited and kicks her legs and waves her arms. Her movements are very large and exaggerated.
Charlotte has a sweet personality, and a wicked sense of humor, she makes us all laugh daily. Since the onset of the seizures she has been unable to develop new skills physically or verbally. She makes noises, squeals with delight, laughs, cries, and screams, she doesn’t make any noises by shaping her mouth. She can’t blow raspberries, or have any control over herself. She loves to explore things with her feet first, her hands will pull up and curl as her brainwaves increase, her feet remain relaxed. She loves to kick people, and is always sending her feet out in different directions to explore the world around her. She arches her back and rolls around the living room, and pushes up with her arms and lifts her head. There doesn’t seem to be a destination in mind as she rolls, but she has gotten very good at it! She is very slow to comfort after she has gotten upset, but doesn’t get upset often. Pain doesn’t always seem to register for her, and she has sat through many blood draws and IV’s without batting an eye. Some seizure activity seems to light up the pleasure center in her brain, and she will smile and laugh soon after the seizure, regardless of what mood she was in before.
Charlotte currently attends a local preschool where she receives OT, PT, Vision Therapy, and Speech therapy. Charlotte has a nurse that helps me care for her throughout the week, and also attends school with her. She loves watching the kids play, and some of the boys in the class will build block towers for her to kick over!
Charlotte currently has:
- Tonic/Clonic seizures, her arms will pull up to her chest and jerk and her legs will stiffen, her toes will be painfully pointed and her eyes roll up sometimes to the right or left.
- Myoclonic seizures, these are harder to spot, even her nurses that know her well sometimes miss them. They can be very subtle jerks, or they can be quite large jerks that fling her arms up or to the side.
- Grand Mal seizures, these have only been happening for the last year. Her entire body stiffens and her mouth draws down severely. She shakes and jerks and cries out very loudly. These tend to wake her up from her sleep, and definitely happen more often at night.
- Spasm seizures, these are relatively new for her. Her arms pull straight out, and her overall body does the jackknife motion these seizures are known for.
- Head drop seizure, her head will drop and she will stop breathing. She has turned blue from lack of oxygen. These may be similar to drop seizures, but Charlotte is not able to “drop”, so I’m not sure. These don’t happen often, but are extremely dangerous if she’s sitting up and we don’t catch her because she is strapped into any chair she’s in.
- Charlotte has most of these seizures for 3 seconds to 10+ minutes. We have found the Diastat medicine to be ineffective for the most part, but because of the severity and frequency of her seizures we have been instructed to withhold the emergency medicine as long as the seizure is lessening. This is a judgement call I have to make on a regular basis. Her seizures seem to follow a bell curve- they will start small, get large, and then trail off. Sometimes she is seizing for 15 minutes as she slowly recovers. This generally looks like tiny muscle jerks and small spasms. She has not been having postictal periods lately following her seizures, and with the exception of the Grand Mal seizure, she seems to be in pretty good spirits afterwards.
- Charlotte has been on Keppra, but we are no longer on it. She is currently on Lamictal /Lamotrigine, Zonisamide/Zonegrin, Onfi/Clobezam. We are also on the Ketogenic diet, which doesn't work very well, but when we tried to take her off we ended up in the PICU with a static seizure. We are also on Charlotte's Web CBD oil, and have previously been on the RSHO CBD oil, neither seem to work to control seizures, but the CW CBD seems to help with the alertness.
At this time for Charlotte, the following diagnoses have been identified:
- KCNB1 Genetic Mutation Impacting K+ Channels
- Epileptic Encephalopathy including Multi-Focal Intractable Epilepsy
- Complex Partial Seizure Disorder/ Epilepsy – polyseizure profile: Convulsive and Non-Convulsive type, Generalized Seizures intermittent
- Generalized Flexion Epilepsy Syndrome
- Major Neurocognitive Disorder due to multiple etiologies with Behavioral Disturbance
- Lennox-Gastaut Syndrome
- Hypoxic events secondary to seizures
- Dysarthria, a neuromotor disorder negatively impacting speech due to poor oral motor control and coordination, speech production, breath control, saliva control, range of motion of her tongue, and chewing skills
- Dyspraxia, a neuromotor disorder negatively impacting fine and gross motor coordination and motor planning
- Developmental Discoordination Disorder
- Non-Verbal Disability
- Hypotonia
- Hypertonia
- Borderline Long QT per established EKG standards
- Difficulty at Midline
- Excessive Night Time Mania
- Some features of Autism Spectrum Disorder
- Constipation secondary to functional bowel muscle weakness
- Decreased urine output of unknown derivation; has risk of dehydration due to fluid intake that is below age norms
- Cortical Visual Impairment
- Below Average Cognitive Performance on Standardized Measurements