Paislee was born in November of 2015 after a pretty eventful, rollercoaster of a pregnancy. Only 16 months separate her and her older sister, Parker. I had a high bleed in my placenta all throughout the first trimester, and once more at 15 weeks, and was supplemented with progesterone to help stabilize that. Then, in the second trimester, we received sequential screening blood test results that she was at an elevated risk for Down Syndrome. Since this is not a diagnostic test, I was sent to a maternal-fetal medicine specialist to find out more. At that ultrasound, they found that Paislee has a hypoplastic nasal bone. Her nasal bone at 20 weeks gestation should have been 4-6mm and hers was a little less than 2mm. This is a “red flag” of genetic syndromes, specifically Downs, and they told me to be prepared for a Down’s baby (I refused amniocentesis to confirm). There were a few times in the 3rd trimester when extra ultrasounds were also needed to monitor her growth, as she was measuring small most of the time. I was induced at 39 weeks and she was delivered as beautiful and healthy as could be, weighing in at a very normal 7 pounds, and Apgars were normal.
Paislee’s infancy is a bit of a blur as I look back. She was a very needy baby. She didn’t sleep great, and always needed her mom. She was colicky, and refluxy, but never to the point that I felt she needed medication. She nursed great, even though I was concerned about lip tie (just by the look of it, not because it was affecting her.) She initially developed gross motor skills quite normally. She sat unassisted by about 6 months, crawled at 7 months, and walked at 13 months. However, I worried early on that she wasn’t meeting other milestones “quite right.” My inability to explain it is probably why we were ignored by our pediatrician at first, but it was just a gut feeling. Around 5 months I felt that she should be reaching and grabbing for things better, but she wasn’t. She would kind of bat at things, but not really reach and grab. I have videos of any time she was doing it, because I would get so excited and reassured so I wanted to have it on record. At 9-ish months I was concerned that she didn’t babble much. She never blew raspberries and I thought her laugh was a little strange because it was never “out loud.” She would be physically laughing, but with almost no sound. I remember being really confused as to why no sound came out when she was so visibly “laughing” and happy. As I try to type what I felt about her delays back then, I still can’t really put a finger on what exactly it was that had me so worried, but at 10 months old, I finally told her pediatrician, “I think she might have autism.” I was literally laughed at. The doctor said, “No, no.. look at her, smiling at me and making eye contact. She is fine, you are just comparing her to Parker who was so advanced.” I’d hear that many more times to come, as well.
Around the time she was one year old and really starting to eat everything, we all noticed how messy of an eater she was. She really just shoved her food in there and a lot fell back out, and she drooled A LOT. She constantly had a soaked bib on and sometimes, she’d shove her food down so quickly that she’d then vomit afterwards. It was difficult for her to use a straw because she couldn’t hold her lips around it tightly enough so the liquid just spilled back out. Between 12-18 months I really began to notice she never used her tongue. She held her mouth slightly open at all times, and drooled excessively, but her tongue was never out. She seemed like she physically couldn’t stick it out or really move it much. I finally noticed that maybe she shoved her food in with her hands because her tongue wasn’t doing the work to push her food to the back of her mouth to swallow. I reached out to the pediatrician about tongue tie and she said, “Well, it’s pretty traumatizing so I won’t make that decision. You can ask her dentist what they want to do.” I went to a pediatric dentist who also said it wasn’t severe enough to do anything about and that if she nursed fine as a baby then it wasn’t a big deal. I finally decided to relax about the feeding and drooling issues since no one else was concerned, she loved food, and wasn’t puking that often.
Her walking was (and still is) a little funky. She is pigeon toed, walks slightly on her toes, and is very clumsy. With therapy, the clumsiness has drastically improved. Interestingly, she runs very well; usually better than she walks. I was concerned about her vision because of the clumsiness and because it seemed like sometimes she was looking through me instead of at me. She saw the eye doc before she turned 2 years old and they said her eyes were great.
Paislee’s first word was just before she turned one, and it was “dada,” and shortly after, “ball.” But her voice was very quiet and breathy. It was like she was working extra hard to get them out. She could make “noise”...(boy, could she ever!) if it was a cry or squeal. But words were always few and far between, and quiet.
Between 12-18 months, I was feeling even stronger urges that something was wrong developmentally when she wasn’t pointing, clapping, or copying things. She was also starting to be pretty rigid about routines. For example, she was an exact-time-of-day napper. It was as if her body just couldn’t function as the clock struck 10:30 AM, and she had to nap or it was going to get ugly. She also began to have a sense of urgency to have two matching objects with her wherever she went. She even learned to walk holding two dog bowls. This is something she often still needs in order to feel grounded and comforted. She can have two matching toys, two matching hair ties, anything really! Her favorite is her two matching Spirit horse stuffed animals that have been with her for years now. This was something we initially shook off as a cute personality quirk, but she truly needs them to calm down. More concerning, she never mimicked sounds or played peekaboo. She was so happy, smiley, and “social,” but without really saying any words. I also felt like some of those interactive things that I had glimpses of around 15 months, she had stopped doing. This is the first time I had used the word “regression” in a sentence with her doc and also the first time that I answered “no” to some of the developmental questions they ask you at check-ups. I felt sick and on the verge of tears at every appointment with her, but each time, the doc would come in, tell me how beautiful she was and what a good girl she is, and to stop comparing her to her sister.
Just before age 2, everyone began to notice how “tough” Paislee is. Pain seemed to have almost no effect on her. She once fell off a tall bar stool onto tile, got up, growled, and walked off...Hit her head on a metal bar during a fall and immediately had a HUGE lump, but hardly shed a tear...Bit completely through her lip and never cried at all. She also couldn’t differentiate between hot and cold. She was starting to struggle with meltdowns that no one could get her through. We literally just have to let it play out and she snaps out of it when she is ready. She rarely self-harms (head banging) or harms others intentionally during tantrums. Typically, she throws her head back, cries and screams loudly, jumps/stomps, then melts into fetal position until she’s ready to get up.
Finally, just before she turned two, I’d had enough. I had no new words or social/communication milestones and any words she did say were not being retained. (i.e. she’d say, “car!” and we’d be over-the-moon, and the next day, she couldn’t say car.) I finally got a little short with our doc and demanded a referral to speech therapy. She handed me a sticky note with a number to call and sent me on my way.
We were evaluated by Early Intervention services the month before she turned two, and I was listened to for the first time. My concerns were validated as she scored well below her age in both expressive and receptive language. She received in-home Speech and OT once a week each for that entire year until she turned 3 and aged out. They were the first to tell me that Paislee was strong but had “low muscle tone.” That was the first time I had ever heard this, but it made a lot of sense. During this year, she outgrew her feeding issues and rarely, if ever, vomits after eating anymore. She gained and retained countless new words, but still had no word-combinations. The month before her third birthday, they transitioned her into our local Pre-K program to continue receiving those services twice a week.
Although she was showing growth by being in school, I was worried that she’d regress on breaks and holidays when they were off, so I found a Pediatric Therapy Center willing to evaluate her. They have been such a saving grace. She is now putting two or three word combos together. Paislee absolutely thrives in their environment, loves her therapists, and continues to grow past her goals. They were the first to tell me that she truly struggled with Sensory Processing and that we may likely be on a path to an ASD diagnosis.
Still, my child was 3 ½ years old now and in all of these therapies and I didn’t even know why. Not having a reason, a specific treatment plan, or a root cause that gave me something to navigate the path just wasn’t sitting right with me. It was at this time that a friend (who’s also a MD), said that he’d recommend seeing a geneticist if I wanted to find a root cause. I called our then-pediatrician the next day and asked for a referral to Children’s Hospital for Clinical Genetics. Her response was the same as it always was with my concerns - very dismissive. I was appalled by our conversation and we decided immediately to find a new Doc, but I wanted my referral first! I fought with a nurse over the phone twice before they gave up and sent the referral.
We are now seeing a wonderful doctor who specializes in developmental delay and ASD. I’ll never forget our first appointment with the genetics team and her apology to me that so many doors had been closed on me as I advocated for my daughter. She assured me that we did belong there. She chose a test from Genedx called ASD/ID. 10 weeks later, in September 2019, we had results; KCNB1.
Even though we had never seen seizures in Paislee, one month later, we’d have our first prolonged EEG to rule out the possibility, since many KCNB1 patients have epilepsy. That EEG showed abnormal background, with generalized slowing (common in any developmental delay), but also Left Centro-Temporal Spikes and Multifocal Epileptiform discharges. Her neuro warned that this would be a precursor to seizures and we were trained on seizure intervention and safety.
Another month passed, and the day before Thanksgiving 2019, Paislee had fallen asleep in my arms at a restaurant and had her first seizure. It lasted over 2 minutes and changed our lives forever. We weighed the risks and decided to start an anti-epileptic drug (Keppra, for now) that day. Starting seizure meds was one of my biggest fears. The ER doctors had obviously never heard of KCNB1 and I think it's important to share that through this group of KCNB1 parents that I had connected with, I had heard about supplementing Vit B6 to off-set or prevent the negative side effects of Keppra. I told the doctors working on her that day that I wanted to start B6 immediately and even though they’d never heard of that, they agreed. I truly believe that is the reason we haven’t experienced the “Kepprage” that is so common on this drug. If you’re a new family to this KCNB1 world, I’ll tell you what our ER doc told us that day: You are the expert now. You will know more about this disease than (probably) any doctor or specialist you see. You will be their voice and advocate and it is okay to be “bossy.”
In early 2020, with one concrete diagnosis finally in hand, we got an evaluation for autism and Paislee was diagnosed. Although high functioning, the services and qualifications she has with this dual-diagnosis are exponential.
Paislee’s KCNB1 diagnosis explains every single thing about Paislee’s differences and special needs. We are optimistic about having a diagnosis and a guide to our plan of action. It is scary that the world of medicine doesn’t know much about KCNB1, but we prayed for an answer and an answer we got! To our knowledge, Paislee has only had one seizure. She has had great control so far on Keppra, with no negative side effects. We now have a devoted team following her care and feel confident that she’ll outgrow every limitation and meet every goal. Paislee is a shining light in our lives and brings joy to everyone she meets. She has never met a stranger, and loves to run up to strange ol’ grandpas and climb into their laps for a great big hug. This is going to be a ride as we navigate this diagnosis but I’ve got the toughest little warrior to work through it with and the sweetest group of parents to lean on!
All About Pais:
Loves animals, specifically dogs and horses
Loves people, specifically men and strangers
Loves food & candy
Responds joyfully to music (even during a tantrum!) & loves to sing!
Paislee’s current struggles, delays, and diagnoses:
KCNB1 variant-related disorder
Epilepsy
High-Functioning Autism
Speech Delay/Global Delay
Hypotonia
Sensory Processing issues
Trouble sleeping/Restless sleep
Paislee’s infancy is a bit of a blur as I look back. She was a very needy baby. She didn’t sleep great, and always needed her mom. She was colicky, and refluxy, but never to the point that I felt she needed medication. She nursed great, even though I was concerned about lip tie (just by the look of it, not because it was affecting her.) She initially developed gross motor skills quite normally. She sat unassisted by about 6 months, crawled at 7 months, and walked at 13 months. However, I worried early on that she wasn’t meeting other milestones “quite right.” My inability to explain it is probably why we were ignored by our pediatrician at first, but it was just a gut feeling. Around 5 months I felt that she should be reaching and grabbing for things better, but she wasn’t. She would kind of bat at things, but not really reach and grab. I have videos of any time she was doing it, because I would get so excited and reassured so I wanted to have it on record. At 9-ish months I was concerned that she didn’t babble much. She never blew raspberries and I thought her laugh was a little strange because it was never “out loud.” She would be physically laughing, but with almost no sound. I remember being really confused as to why no sound came out when she was so visibly “laughing” and happy. As I try to type what I felt about her delays back then, I still can’t really put a finger on what exactly it was that had me so worried, but at 10 months old, I finally told her pediatrician, “I think she might have autism.” I was literally laughed at. The doctor said, “No, no.. look at her, smiling at me and making eye contact. She is fine, you are just comparing her to Parker who was so advanced.” I’d hear that many more times to come, as well.
Around the time she was one year old and really starting to eat everything, we all noticed how messy of an eater she was. She really just shoved her food in there and a lot fell back out, and she drooled A LOT. She constantly had a soaked bib on and sometimes, she’d shove her food down so quickly that she’d then vomit afterwards. It was difficult for her to use a straw because she couldn’t hold her lips around it tightly enough so the liquid just spilled back out. Between 12-18 months I really began to notice she never used her tongue. She held her mouth slightly open at all times, and drooled excessively, but her tongue was never out. She seemed like she physically couldn’t stick it out or really move it much. I finally noticed that maybe she shoved her food in with her hands because her tongue wasn’t doing the work to push her food to the back of her mouth to swallow. I reached out to the pediatrician about tongue tie and she said, “Well, it’s pretty traumatizing so I won’t make that decision. You can ask her dentist what they want to do.” I went to a pediatric dentist who also said it wasn’t severe enough to do anything about and that if she nursed fine as a baby then it wasn’t a big deal. I finally decided to relax about the feeding and drooling issues since no one else was concerned, she loved food, and wasn’t puking that often.
Her walking was (and still is) a little funky. She is pigeon toed, walks slightly on her toes, and is very clumsy. With therapy, the clumsiness has drastically improved. Interestingly, she runs very well; usually better than she walks. I was concerned about her vision because of the clumsiness and because it seemed like sometimes she was looking through me instead of at me. She saw the eye doc before she turned 2 years old and they said her eyes were great.
Paislee’s first word was just before she turned one, and it was “dada,” and shortly after, “ball.” But her voice was very quiet and breathy. It was like she was working extra hard to get them out. She could make “noise”...(boy, could she ever!) if it was a cry or squeal. But words were always few and far between, and quiet.
Between 12-18 months, I was feeling even stronger urges that something was wrong developmentally when she wasn’t pointing, clapping, or copying things. She was also starting to be pretty rigid about routines. For example, she was an exact-time-of-day napper. It was as if her body just couldn’t function as the clock struck 10:30 AM, and she had to nap or it was going to get ugly. She also began to have a sense of urgency to have two matching objects with her wherever she went. She even learned to walk holding two dog bowls. This is something she often still needs in order to feel grounded and comforted. She can have two matching toys, two matching hair ties, anything really! Her favorite is her two matching Spirit horse stuffed animals that have been with her for years now. This was something we initially shook off as a cute personality quirk, but she truly needs them to calm down. More concerning, she never mimicked sounds or played peekaboo. She was so happy, smiley, and “social,” but without really saying any words. I also felt like some of those interactive things that I had glimpses of around 15 months, she had stopped doing. This is the first time I had used the word “regression” in a sentence with her doc and also the first time that I answered “no” to some of the developmental questions they ask you at check-ups. I felt sick and on the verge of tears at every appointment with her, but each time, the doc would come in, tell me how beautiful she was and what a good girl she is, and to stop comparing her to her sister.
Just before age 2, everyone began to notice how “tough” Paislee is. Pain seemed to have almost no effect on her. She once fell off a tall bar stool onto tile, got up, growled, and walked off...Hit her head on a metal bar during a fall and immediately had a HUGE lump, but hardly shed a tear...Bit completely through her lip and never cried at all. She also couldn’t differentiate between hot and cold. She was starting to struggle with meltdowns that no one could get her through. We literally just have to let it play out and she snaps out of it when she is ready. She rarely self-harms (head banging) or harms others intentionally during tantrums. Typically, she throws her head back, cries and screams loudly, jumps/stomps, then melts into fetal position until she’s ready to get up.
Finally, just before she turned two, I’d had enough. I had no new words or social/communication milestones and any words she did say were not being retained. (i.e. she’d say, “car!” and we’d be over-the-moon, and the next day, she couldn’t say car.) I finally got a little short with our doc and demanded a referral to speech therapy. She handed me a sticky note with a number to call and sent me on my way.
We were evaluated by Early Intervention services the month before she turned two, and I was listened to for the first time. My concerns were validated as she scored well below her age in both expressive and receptive language. She received in-home Speech and OT once a week each for that entire year until she turned 3 and aged out. They were the first to tell me that Paislee was strong but had “low muscle tone.” That was the first time I had ever heard this, but it made a lot of sense. During this year, she outgrew her feeding issues and rarely, if ever, vomits after eating anymore. She gained and retained countless new words, but still had no word-combinations. The month before her third birthday, they transitioned her into our local Pre-K program to continue receiving those services twice a week.
Although she was showing growth by being in school, I was worried that she’d regress on breaks and holidays when they were off, so I found a Pediatric Therapy Center willing to evaluate her. They have been such a saving grace. She is now putting two or three word combos together. Paislee absolutely thrives in their environment, loves her therapists, and continues to grow past her goals. They were the first to tell me that she truly struggled with Sensory Processing and that we may likely be on a path to an ASD diagnosis.
Still, my child was 3 ½ years old now and in all of these therapies and I didn’t even know why. Not having a reason, a specific treatment plan, or a root cause that gave me something to navigate the path just wasn’t sitting right with me. It was at this time that a friend (who’s also a MD), said that he’d recommend seeing a geneticist if I wanted to find a root cause. I called our then-pediatrician the next day and asked for a referral to Children’s Hospital for Clinical Genetics. Her response was the same as it always was with my concerns - very dismissive. I was appalled by our conversation and we decided immediately to find a new Doc, but I wanted my referral first! I fought with a nurse over the phone twice before they gave up and sent the referral.
We are now seeing a wonderful doctor who specializes in developmental delay and ASD. I’ll never forget our first appointment with the genetics team and her apology to me that so many doors had been closed on me as I advocated for my daughter. She assured me that we did belong there. She chose a test from Genedx called ASD/ID. 10 weeks later, in September 2019, we had results; KCNB1.
Even though we had never seen seizures in Paislee, one month later, we’d have our first prolonged EEG to rule out the possibility, since many KCNB1 patients have epilepsy. That EEG showed abnormal background, with generalized slowing (common in any developmental delay), but also Left Centro-Temporal Spikes and Multifocal Epileptiform discharges. Her neuro warned that this would be a precursor to seizures and we were trained on seizure intervention and safety.
Another month passed, and the day before Thanksgiving 2019, Paislee had fallen asleep in my arms at a restaurant and had her first seizure. It lasted over 2 minutes and changed our lives forever. We weighed the risks and decided to start an anti-epileptic drug (Keppra, for now) that day. Starting seizure meds was one of my biggest fears. The ER doctors had obviously never heard of KCNB1 and I think it's important to share that through this group of KCNB1 parents that I had connected with, I had heard about supplementing Vit B6 to off-set or prevent the negative side effects of Keppra. I told the doctors working on her that day that I wanted to start B6 immediately and even though they’d never heard of that, they agreed. I truly believe that is the reason we haven’t experienced the “Kepprage” that is so common on this drug. If you’re a new family to this KCNB1 world, I’ll tell you what our ER doc told us that day: You are the expert now. You will know more about this disease than (probably) any doctor or specialist you see. You will be their voice and advocate and it is okay to be “bossy.”
In early 2020, with one concrete diagnosis finally in hand, we got an evaluation for autism and Paislee was diagnosed. Although high functioning, the services and qualifications she has with this dual-diagnosis are exponential.
Paislee’s KCNB1 diagnosis explains every single thing about Paislee’s differences and special needs. We are optimistic about having a diagnosis and a guide to our plan of action. It is scary that the world of medicine doesn’t know much about KCNB1, but we prayed for an answer and an answer we got! To our knowledge, Paislee has only had one seizure. She has had great control so far on Keppra, with no negative side effects. We now have a devoted team following her care and feel confident that she’ll outgrow every limitation and meet every goal. Paislee is a shining light in our lives and brings joy to everyone she meets. She has never met a stranger, and loves to run up to strange ol’ grandpas and climb into their laps for a great big hug. This is going to be a ride as we navigate this diagnosis but I’ve got the toughest little warrior to work through it with and the sweetest group of parents to lean on!
All About Pais:
Loves animals, specifically dogs and horses
Loves people, specifically men and strangers
Loves food & candy
Responds joyfully to music (even during a tantrum!) & loves to sing!
Paislee’s current struggles, delays, and diagnoses:
KCNB1 variant-related disorder
Epilepsy
High-Functioning Autism
Speech Delay/Global Delay
Hypotonia
Sensory Processing issues
Trouble sleeping/Restless sleep