I would like to share the story of my daughter Gracelyn with everyone. I think it is important to share her story because of how the mutation affects her. Gracelyn was diagnosed with the KCNB1 gene mutation in 2016 when she was 7 years old. Because of her mutation she has ADHD, Ataxia, Apraxia, mild speech issues, sensory issues, memory issues, gate issues, GI issues and worst of all she goes into terrible episodes. Gracelyn is one of the very few kids that does not have seizures of any kind that we have identified thus far. I struggle at times sharing her story because she doesn't seem to be in as much distress on a daily basis as some of our other KCNB1 warriors, but it does in fact affect her life on a daily basis and at times severely. I want to share her story and our journey to shed light on the different ways this mysterious mutation manifests itself differently in every child and to bring more focus and awareness to the rare mutation affecting so many that may not know what it is. This will be rather long because I want to provide details to the best of my memory. Thank you for sticking with me.
Gracelyn was born on January 21, 2009 via an unplanned C-section. My pregnancy was normal and relatively easy to be honest. My original due date was January 14th, 2009, but Gracelyn had no plans on coming out on her own. I wasn't dilating during my last week of my pregnancy so they scheduled me to be induced, we went in the afternoon of Tuesday, January 20th, all of the normal procedural things happened and I opted for an epidural. After they induced my labor hours and hours had gone by and I still wasn't dilating properly, I stopped at 5 cm then my doc came in the room in his scrubs and prepared me for a C-Section. The only scare was that Gracelyn didn't breathe for about 30 seconds, otherwise she was a very healthy 8 lbs 9.6 oz. Gracelyn was a very happy, active, strong and talkative infant. She showed no signs of being ill in any way and met all her milestones on time.
At the age of 2 we took Gracelyn for her routine wellness checkup, filled out the multi-page questionnaire about her skills and progress and were informed by her pediatrician that Gracelyn was "behind" her peers. We didn't make much of it being new parents and her only being 2 we figured she would be fine. The next year 2012 at age 3 wellness visit same scenario, this time her pediatrician showed more concern and guided us to enroll Gracelyn a year early to preschool on an IEP to help her progress.We did as she directed and that fall is when everything really started to change.
September 2012, Gracelyn wakes up one morning very different. She wasn't speaking, she wasn't eating or drinking, she was walking different, she had a far away look in her eyes like she wasn't present. She also "floated" her arms, meaning she would hold her arms bent at a 90 degree angle at chest level and leave them there as if she had no control over them. When we would try to gently push her arms down to her sides they would float right back up once you let go. Something was happening to our child, but what?? We took her to Children's Hospital ER where they had no idea what was going on with her and decided to admit us. The doctors were baffled. Gracelyn’s father and I are both rather foggy on some of the details of the first hospital stay, but we do know no major testing was done. I do not believe there were even any consults either, they just monitored her and told us once she starts eating we will let her go. After 4 days she finally started eating and they discharged her chalking it all up to a virus because they simply had no idea what was happening to her. Just over 1 year later, October of 2013 it happened again, this time after an illness. Then again in 2014, again after an illness. The 2013 and 2014 episodes were the same as the first, she woke up that way and it hit hard. Along with all of the symptoms of the first episode now she couldn't catch herself in time to go potty in the toilet.
During these episodes Gracelyn needs constant supervision and help with daily living; she doesn't seem to have the ability to feed herself she will either play with her food or stare at it. We have to feed her to get her to eat anything and at best she eats a fraction of her normal, a few bites here and there until she refuses to eat any more, same with drinking. At baseline Gracelyn requires a good amount of sleep, 10 hrs when possible. During the week with work and school 10 hours is sometimes not possible, so she generally is harder to wake up and is understandably cranky. In episode she doesn't sleep as much her body just won't let her. She needs reminders to go potty and help to get bottoms down and up and to wipe. Her toe walking is exaggerated during episodes, her “floating” arms, although not a constant during episodes, seem to be held up by some invisible force. Her eyes, her big, beautiful brown eyes go lifeless, that is my absolute signal that she is in episode, she is not there. My baby who is full of life, happy, silly, loving and spunky is gone, taken away by whatever is happening in her little body. Her normal happy and energetic demeanor is stripped away as she sits staring off into space hardly saying a word, If Gracelyn speaks it is nonsense or babble. While observing her on one of these occasions she was sitting on our living room floor looking up towards the ceiling as if she saw something there pointed towards where she was looking and mumbled something that I couldn't hear from where I was standing. This only happened once, but it sure stuck in my memory.
As you can imagine from 2012-2014 we were on high alert all the time. We would take extra precaution to keep her away from anyone who was remotely ill and hoped to God she wouldn't get sick. We were in constant contact with her pediatrician, we brainstormed plans of action I even had her personal cell number to contact her immediately. It was such a difficult time, everyone was baffled. Many ER visits were made and many major tests were done multiple times. Sometimes because of how slow the process is to get anything done in the ER some of these tests were done post-episode. That is one of the reasons I had her Pediatrician's personal number, so we could Grace in and tested in-episode. However, whether in-episode or post-episode all of her MRI’s, CT’s, LP’s, EEG’s,complete metabolic work up and whatever other tests they administered came up normal except her EEG which only showed an overall slowing of the brain. We kept being discharged without answers, we all continued to be left in the dark as to what was happening to our little girl.
At baseline when Gracelyn was not in episode she had an incredibly hard time functioning at school and around her peers. I would constantly get phone calls from school because Gracelyn was not able focus or control her behavior. She would run away from her classroom; sometimes she would hide somewhere hysterical and would refuse to come out sometimes she would run away from the playground heading right for the busy street seemingly without awareness of the danger. Gracelyn would get physical with other students and sometimes with her teachers. Gracelyn struggled with the afternoons most of all, after around lunch time she would get tired and her behavior would escalate. The school and her teachers were helpful in trying different strategies to help her make it through the school day. Most things didn't work. We were referred to mental health for Gracelyn and started different types of therapy and medications that all proved to be worthless to us. Some of the medications given to Grace were Focaline, Clonidine and worst of all Adderall. The Focalin and Clonidine just didn't do anything for her and the Adderall suppressed her appetite so severely she didn't know she was hungry until she was sick to her stomach with it then would barely eat, she had lost a considerable amount of weight. Her pediatrician wanted me to weigh her everyday and give her a break from the medications on the weekends so she could eat normally. Honestly, this only lasted a week before I scraped it, there had to be a better way.
During the 2014 episode we had another Neurology consult, this time a new door opened for us. After examining Gracelyn and watching her walk pattern and movement she referred us to a Neurologist at Children’s hospital that specializes in movement disorders. At our very first visit with the Neurologist Gracelyn was off the walls, we were informed that she had ADHD, that was the first diagnosis. The Neurologist wanted to do a series of tests on Gracelyn to find the cause of all she was living through. By this point Gracelyn had become afraid of going to the doctor or a hospital knowing every time we went a needle was involved, that made appointments difficult for a while. The plan was to take a boat load of our daughters blood to test it and if nothing was found then a full test of her genes would be done. This all started happening in 2015, in the meantime Gracelyn's diagnosis of Ataxia and Apraxia came. Gracelyn's spacial awareness was bad and she was very clumsy, her gait was bad and when she ran we thought she was going to fall over because she would lean forward and her arms flailed. After all her blood tests came back negative for anything the gene testing began and an epilepsy panel was done. In the summer of 2016 I received a phone call with the news that our daughter had the KCNB1 gene mutation. After testing her dad and I it was determined her mutation was De Novo and because of this it could get worse as she got older. After receiving this news her Neurologist decided to put Grace on Lamotrigine not for the purpose of seizures which she never had, but to help her focus and attention. She came to that thought due to another set of patients she had treated that were adopted identical twin girl and boy. The girl twin experienced seizures where as her brother did not. The medication helped the girl not only with her seizures, but also with attention issues. Desperate to help her son who had attention issues she begged to have her son on Lamotrigine as well. Finally her Neurologist appeased her requests and her son was also prescribed the medication and it helped. In 2016 Gracelyn was also started on Lamotrigine, this is the same year she was diagnosed with sensory processing disorder and started OT, PT and wore a weighted vest every day. From 2016 till the summer of 2019 Gracelyn had no episodes, her gate and skills improved slowly. We had finally found a great school for her that she loves and thrives in; things were really looking up for her. Gracelyn expressed the utmost desire not to wear her vest going into the 5th grade. She worked really hard during her therapy sessions as she always did and graduated over the summer break. We had also expressed our desire to her Neurologist to wean Gracelyn off of her Lamotragine seeing how well she was doing and thinking she had “outgrown” the episodes. Even up to this point neither myself, Gracelyn's father nor her Neurologist could say if her episodes were caused by or related to the KCNB1 mutation or not. Nevertheless Gracelyn was fully weaned from vest, therapy and meds by August of 2019.
December 20, 2019 Gracelyn goes into another episode, this one being the worst and the longest one she has ever had. This is her first episode in 4 years and it took us all by surprise. Gracelyn had been at a sleepover on the 19th of December the mother hosting the sleepover took the kids to school the next morning. I get a message from school around 1pm asking me to come get Grace because she is panicky and nauseous, as soon as I saw Grace I knew she was in-episode. My heart sank. She was extremely tired and slept for 15 hours after we got her home. Between December 21st and December 25th we had to take Grace to the ER 3 times, it was a fiasco! They didn’t know how to help us so they stuck their standard protocol. We couldn’t get a hold of her primary or her neurologist. Each day Gracelyn got progressively worse and each visit to the ER grew increasingly more frustrating; we felt as if they were not taking us seriously and didn't make our daughter a priority. By the third ER visit we were basically told this was not an emergent situation to wait and see her primary. We were desperate to see someone that actually knew Grace so they could see this was an emergency. We had to request Grace get an IV to keep her hydrated, we had to request a complete metabolic work up and strep culture. Because she wasn't a danger to herself or anyone else they sent us home, this was Christmas night. When we saw Gracelyn's primary the next day one of the very first things she asked is if the ER consulted psych (they mentioned it, but never brought anyone to see her) then she asked if they spoke of admitting her (they mentioned it once). When she heard our response to those questions she looked at us in disbelief and made the comment, “they let her go home like this?” We were admitted that afternoon and spent the next three days at Children’s hospital. Gracelyn displayed an immense amount of panic and anxiety. Her words were either repetitive or nonsense, she was very confused and disoriented. She knew she was sick and would tell you, “ I’m not feeling well.” but could not elaborate. You could tell she was scared. She wouldn’t stop moving she would walk around rather aimlessly saying very random weird things. She would flap her hands, clap, snap, hit herself in the face and thrash her head. Her pain threshold increased and she wouldn’t really let you get near her unless you were helping her do something. She slept less and less as the days went on and she went into delirium. She had a whole medical team with psychology and neurology consulting. We had to really emphasize to everyone that saw her that this was not our daughter at baseline push for her care. I was beyond annoyed that her neurologist had not come to see her, yes they were consulting her and she knew what was going on, but she needed to see Grace for herself. I voiced my concern and she showed up to see Grace two days later. When she did come she dropped a bombshell on us, this could most likely be and anti-NMDA autoimmune Encephalopathy ...WHAT?! She was not convinced at all that this was here gene mutation. That day Gracelyn went down for and MRI and an LP. We were losing our minds. Gracelyns blood and spinal fluid were sent to the Mayo clinic for analysis that day. Given that it was right in the middle of the holidays everything was running extra slow and as I sit here writing this we still have not received the results back from the Mayo clinic. We personally do not think it is an anti-NMDA autoimmune Encephalopathy and all to do with the mutation. Two EEGs were performed as well during our stay, one was overnight the same day as her as her MRI and LP. Neither showed any signs of seizures or any new abnormalities. The preliminary results from Children’s on her MRI and LP showed no signs of inflammation or abnormalities either. Gracelyn was started back on a baby dose of Lamotrigine on the 28th and we were discharged on the 29th.
Since she was discharged she has been improving everyday, she is regaining her skills and doing most things independently again. We are still not out of the wood though, since going back to school we have her on half days as not to stress her too much. Her memory is not back fully, at school she could not remember how to write the letter N, but with a little prompting she remembered. Gracelyn is sleeping a lot and eating even more, she is regaining her strength and hopefully can fit back in her clothes soon. Recovery from these episodes is slow, but she always comes back to baseline. The Lamotrigine cuts the edge off her ADHD symptoms, so she seems more “chill” than normal and there are no adverse side effects that she experiences. If, for my child it is as “simple” as taking Lamotrigine to keep these horrible episodes at bay and help with her ADHD with really no adverse side effects, then so be it. Imagine if it could help other children too! No two children are affected in the same way by this genetic mutation and no child is less important or less affected than another because the manifestation seems to be individual. This is why I felt it important to share Gracelyn’s story and our experience. Our kids our warriors and we continue to champion for them.
Gracelyn was born on January 21, 2009 via an unplanned C-section. My pregnancy was normal and relatively easy to be honest. My original due date was January 14th, 2009, but Gracelyn had no plans on coming out on her own. I wasn't dilating during my last week of my pregnancy so they scheduled me to be induced, we went in the afternoon of Tuesday, January 20th, all of the normal procedural things happened and I opted for an epidural. After they induced my labor hours and hours had gone by and I still wasn't dilating properly, I stopped at 5 cm then my doc came in the room in his scrubs and prepared me for a C-Section. The only scare was that Gracelyn didn't breathe for about 30 seconds, otherwise she was a very healthy 8 lbs 9.6 oz. Gracelyn was a very happy, active, strong and talkative infant. She showed no signs of being ill in any way and met all her milestones on time.
At the age of 2 we took Gracelyn for her routine wellness checkup, filled out the multi-page questionnaire about her skills and progress and were informed by her pediatrician that Gracelyn was "behind" her peers. We didn't make much of it being new parents and her only being 2 we figured she would be fine. The next year 2012 at age 3 wellness visit same scenario, this time her pediatrician showed more concern and guided us to enroll Gracelyn a year early to preschool on an IEP to help her progress.We did as she directed and that fall is when everything really started to change.
September 2012, Gracelyn wakes up one morning very different. She wasn't speaking, she wasn't eating or drinking, she was walking different, she had a far away look in her eyes like she wasn't present. She also "floated" her arms, meaning she would hold her arms bent at a 90 degree angle at chest level and leave them there as if she had no control over them. When we would try to gently push her arms down to her sides they would float right back up once you let go. Something was happening to our child, but what?? We took her to Children's Hospital ER where they had no idea what was going on with her and decided to admit us. The doctors were baffled. Gracelyn’s father and I are both rather foggy on some of the details of the first hospital stay, but we do know no major testing was done. I do not believe there were even any consults either, they just monitored her and told us once she starts eating we will let her go. After 4 days she finally started eating and they discharged her chalking it all up to a virus because they simply had no idea what was happening to her. Just over 1 year later, October of 2013 it happened again, this time after an illness. Then again in 2014, again after an illness. The 2013 and 2014 episodes were the same as the first, she woke up that way and it hit hard. Along with all of the symptoms of the first episode now she couldn't catch herself in time to go potty in the toilet.
During these episodes Gracelyn needs constant supervision and help with daily living; she doesn't seem to have the ability to feed herself she will either play with her food or stare at it. We have to feed her to get her to eat anything and at best she eats a fraction of her normal, a few bites here and there until she refuses to eat any more, same with drinking. At baseline Gracelyn requires a good amount of sleep, 10 hrs when possible. During the week with work and school 10 hours is sometimes not possible, so she generally is harder to wake up and is understandably cranky. In episode she doesn't sleep as much her body just won't let her. She needs reminders to go potty and help to get bottoms down and up and to wipe. Her toe walking is exaggerated during episodes, her “floating” arms, although not a constant during episodes, seem to be held up by some invisible force. Her eyes, her big, beautiful brown eyes go lifeless, that is my absolute signal that she is in episode, she is not there. My baby who is full of life, happy, silly, loving and spunky is gone, taken away by whatever is happening in her little body. Her normal happy and energetic demeanor is stripped away as she sits staring off into space hardly saying a word, If Gracelyn speaks it is nonsense or babble. While observing her on one of these occasions she was sitting on our living room floor looking up towards the ceiling as if she saw something there pointed towards where she was looking and mumbled something that I couldn't hear from where I was standing. This only happened once, but it sure stuck in my memory.
As you can imagine from 2012-2014 we were on high alert all the time. We would take extra precaution to keep her away from anyone who was remotely ill and hoped to God she wouldn't get sick. We were in constant contact with her pediatrician, we brainstormed plans of action I even had her personal cell number to contact her immediately. It was such a difficult time, everyone was baffled. Many ER visits were made and many major tests were done multiple times. Sometimes because of how slow the process is to get anything done in the ER some of these tests were done post-episode. That is one of the reasons I had her Pediatrician's personal number, so we could Grace in and tested in-episode. However, whether in-episode or post-episode all of her MRI’s, CT’s, LP’s, EEG’s,complete metabolic work up and whatever other tests they administered came up normal except her EEG which only showed an overall slowing of the brain. We kept being discharged without answers, we all continued to be left in the dark as to what was happening to our little girl.
At baseline when Gracelyn was not in episode she had an incredibly hard time functioning at school and around her peers. I would constantly get phone calls from school because Gracelyn was not able focus or control her behavior. She would run away from her classroom; sometimes she would hide somewhere hysterical and would refuse to come out sometimes she would run away from the playground heading right for the busy street seemingly without awareness of the danger. Gracelyn would get physical with other students and sometimes with her teachers. Gracelyn struggled with the afternoons most of all, after around lunch time she would get tired and her behavior would escalate. The school and her teachers were helpful in trying different strategies to help her make it through the school day. Most things didn't work. We were referred to mental health for Gracelyn and started different types of therapy and medications that all proved to be worthless to us. Some of the medications given to Grace were Focaline, Clonidine and worst of all Adderall. The Focalin and Clonidine just didn't do anything for her and the Adderall suppressed her appetite so severely she didn't know she was hungry until she was sick to her stomach with it then would barely eat, she had lost a considerable amount of weight. Her pediatrician wanted me to weigh her everyday and give her a break from the medications on the weekends so she could eat normally. Honestly, this only lasted a week before I scraped it, there had to be a better way.
During the 2014 episode we had another Neurology consult, this time a new door opened for us. After examining Gracelyn and watching her walk pattern and movement she referred us to a Neurologist at Children’s hospital that specializes in movement disorders. At our very first visit with the Neurologist Gracelyn was off the walls, we were informed that she had ADHD, that was the first diagnosis. The Neurologist wanted to do a series of tests on Gracelyn to find the cause of all she was living through. By this point Gracelyn had become afraid of going to the doctor or a hospital knowing every time we went a needle was involved, that made appointments difficult for a while. The plan was to take a boat load of our daughters blood to test it and if nothing was found then a full test of her genes would be done. This all started happening in 2015, in the meantime Gracelyn's diagnosis of Ataxia and Apraxia came. Gracelyn's spacial awareness was bad and she was very clumsy, her gait was bad and when she ran we thought she was going to fall over because she would lean forward and her arms flailed. After all her blood tests came back negative for anything the gene testing began and an epilepsy panel was done. In the summer of 2016 I received a phone call with the news that our daughter had the KCNB1 gene mutation. After testing her dad and I it was determined her mutation was De Novo and because of this it could get worse as she got older. After receiving this news her Neurologist decided to put Grace on Lamotrigine not for the purpose of seizures which she never had, but to help her focus and attention. She came to that thought due to another set of patients she had treated that were adopted identical twin girl and boy. The girl twin experienced seizures where as her brother did not. The medication helped the girl not only with her seizures, but also with attention issues. Desperate to help her son who had attention issues she begged to have her son on Lamotrigine as well. Finally her Neurologist appeased her requests and her son was also prescribed the medication and it helped. In 2016 Gracelyn was also started on Lamotrigine, this is the same year she was diagnosed with sensory processing disorder and started OT, PT and wore a weighted vest every day. From 2016 till the summer of 2019 Gracelyn had no episodes, her gate and skills improved slowly. We had finally found a great school for her that she loves and thrives in; things were really looking up for her. Gracelyn expressed the utmost desire not to wear her vest going into the 5th grade. She worked really hard during her therapy sessions as she always did and graduated over the summer break. We had also expressed our desire to her Neurologist to wean Gracelyn off of her Lamotragine seeing how well she was doing and thinking she had “outgrown” the episodes. Even up to this point neither myself, Gracelyn's father nor her Neurologist could say if her episodes were caused by or related to the KCNB1 mutation or not. Nevertheless Gracelyn was fully weaned from vest, therapy and meds by August of 2019.
December 20, 2019 Gracelyn goes into another episode, this one being the worst and the longest one she has ever had. This is her first episode in 4 years and it took us all by surprise. Gracelyn had been at a sleepover on the 19th of December the mother hosting the sleepover took the kids to school the next morning. I get a message from school around 1pm asking me to come get Grace because she is panicky and nauseous, as soon as I saw Grace I knew she was in-episode. My heart sank. She was extremely tired and slept for 15 hours after we got her home. Between December 21st and December 25th we had to take Grace to the ER 3 times, it was a fiasco! They didn’t know how to help us so they stuck their standard protocol. We couldn’t get a hold of her primary or her neurologist. Each day Gracelyn got progressively worse and each visit to the ER grew increasingly more frustrating; we felt as if they were not taking us seriously and didn't make our daughter a priority. By the third ER visit we were basically told this was not an emergent situation to wait and see her primary. We were desperate to see someone that actually knew Grace so they could see this was an emergency. We had to request Grace get an IV to keep her hydrated, we had to request a complete metabolic work up and strep culture. Because she wasn't a danger to herself or anyone else they sent us home, this was Christmas night. When we saw Gracelyn's primary the next day one of the very first things she asked is if the ER consulted psych (they mentioned it, but never brought anyone to see her) then she asked if they spoke of admitting her (they mentioned it once). When she heard our response to those questions she looked at us in disbelief and made the comment, “they let her go home like this?” We were admitted that afternoon and spent the next three days at Children’s hospital. Gracelyn displayed an immense amount of panic and anxiety. Her words were either repetitive or nonsense, she was very confused and disoriented. She knew she was sick and would tell you, “ I’m not feeling well.” but could not elaborate. You could tell she was scared. She wouldn’t stop moving she would walk around rather aimlessly saying very random weird things. She would flap her hands, clap, snap, hit herself in the face and thrash her head. Her pain threshold increased and she wouldn’t really let you get near her unless you were helping her do something. She slept less and less as the days went on and she went into delirium. She had a whole medical team with psychology and neurology consulting. We had to really emphasize to everyone that saw her that this was not our daughter at baseline push for her care. I was beyond annoyed that her neurologist had not come to see her, yes they were consulting her and she knew what was going on, but she needed to see Grace for herself. I voiced my concern and she showed up to see Grace two days later. When she did come she dropped a bombshell on us, this could most likely be and anti-NMDA autoimmune Encephalopathy ...WHAT?! She was not convinced at all that this was here gene mutation. That day Gracelyn went down for and MRI and an LP. We were losing our minds. Gracelyns blood and spinal fluid were sent to the Mayo clinic for analysis that day. Given that it was right in the middle of the holidays everything was running extra slow and as I sit here writing this we still have not received the results back from the Mayo clinic. We personally do not think it is an anti-NMDA autoimmune Encephalopathy and all to do with the mutation. Two EEGs were performed as well during our stay, one was overnight the same day as her as her MRI and LP. Neither showed any signs of seizures or any new abnormalities. The preliminary results from Children’s on her MRI and LP showed no signs of inflammation or abnormalities either. Gracelyn was started back on a baby dose of Lamotrigine on the 28th and we were discharged on the 29th.
Since she was discharged she has been improving everyday, she is regaining her skills and doing most things independently again. We are still not out of the wood though, since going back to school we have her on half days as not to stress her too much. Her memory is not back fully, at school she could not remember how to write the letter N, but with a little prompting she remembered. Gracelyn is sleeping a lot and eating even more, she is regaining her strength and hopefully can fit back in her clothes soon. Recovery from these episodes is slow, but she always comes back to baseline. The Lamotrigine cuts the edge off her ADHD symptoms, so she seems more “chill” than normal and there are no adverse side effects that she experiences. If, for my child it is as “simple” as taking Lamotrigine to keep these horrible episodes at bay and help with her ADHD with really no adverse side effects, then so be it. Imagine if it could help other children too! No two children are affected in the same way by this genetic mutation and no child is less important or less affected than another because the manifestation seems to be individual. This is why I felt it important to share Gracelyn’s story and our experience. Our kids our warriors and we continue to champion for them.