RianaFaith was born at 35 weeks in December of 2013. There were no complications throughout the pregnancy and I had a normal delivery. RianaFaith has a personality larger than life itself and can bring a smile to everyone she meets. She is super friendly and loving, she approaches everyone with no concept of danger. Riri thrives on music (especially Splash N’ Boots) and dancing, adores dogs and loves water.
Riri wasn’t meeting her milestones and I figured she would hit them at her own pace. She seldomly showed any emotions, eg; laughing, giggling or mimicking when she was a baby, she wasn’t a fussy or cranky baby she was just a baby but with no real sign of anything that your typical baby would hold interest for. She slept plenty and continues to now , at almost 7 years old she requires at least 12 to 13 hours of sleep a night and sometimes requiring a nap during the day lasting anywhere between 1 to 2 hours; although she sleeps plenty she’s not getting quality sleep, her sleep is very disturbed, she thrashes about, her EEGs have shown an irregular pattern. Riri did begin walking at 14 months old but with a very clumsy and unsteady gait, she also wasn’t speaking or saying any words till she was about 12 months old and it was more babble than anything else, she would say a word and then lose the ability to say it again.
Looking back now there were some red flag moments, I can admit now I was in denial, I was a single mom and terrified of acknowledging that something was different.
Just before her 2nd birthday I noticed she was having these “far away” moments, she wasn’t quite here with me and was unresponsive to touch or sound, This would last anywhere between 20–30 seconds and she was having about 30 a day. I spoke with friends who just tried to reassure me that my daughter was being a typical toddler but I knew that wasn’t the case, my mommy gut told me to dig further.
I booked an appointment to see her Pediatrician and from there we saw a neurologist at McMaster Children’s Hospital. It was confirmed that she had been having seizures and medications were started the very same day we got the diagnosis. She was diagnosed with idiopathic epilepsy because they had no idea what was going on. She was seen by a pediatric developmental specialist and was diagnosed with global developmental delay, intellectual disability, nonverbal, ataxic, developmental regression.
RianaFaith Has had quite a few EEGs and every time it seems to give us more information we didn’t have previously.
We had many genetic testing done and we came up empty, we had an epiSEEK gene panel done and it revealed a GLDC gene variant of unknown significance which brought us back to square one with no information. RianaFaith had an MRI done at the age of 3, results were incomplete myelination of the white matter and it was recommended to redo the MRI if needed. We then had the Whole Exome Sequencing (WES) Genetic test done and we got a diagnosis of KCNB1.
I had never even heard of it and the fact that the geneticist and neurologist didn’t know much about it wasn’t very reassuring. To date there are just over 120 cases worldwide. I always knew my daughter was unique but WOW!
RianaFaith has a very high pain tolerance, she shakes uncontrollably like she is freezing and there are no answers and her neurologist just chalks it up to behavior. There has been three instances where Riri had gelastic seizures and those were pretty scary because I never even knew they existed, all I knew is that my daughter looked pretty scary even though she was laughing pretty hard, She’s also had many moments where her arms and hands have turned blue for no apparent reason lasting anywhere between 5 to 10 minutes. She’s had occasional Inconsolable emotional breakdowns which is very unlike her she will thrash herself about crying and screaming and unable to tell me what is wrong these have lasted anywhere between 5 to 15 minutes. Little did I know these were also seizures.
Riri has a refractory seizure disorder, she is on 2 different meds and is at max level for both of them. To date she suffers from absence seizures, atypical absence seizure, clonic seizures, tonic clonic seizures and focal seizures from the left frontocentral and right frontocentral temporal regions independently.
Epileptic encephalopathies
Developmental Regression
Developmental Delay
Intellectual Disability
Ataxia
Not Potty Trained
Non-Verbal
Fine & Gross Motor Delay
Immature Oral Muscles
Abdominal Pain/Reflux
Although RianaFaith is classified as nonverbal she does have a few words that those who work closely with her on an everyday basis understand, she also uses an augmentative device to help her communicate and use her voice. I believe that her regression is due to her seizure activity and she slowly makes way to gain what she’s lost. For the last few months she has lost some function with her fine motor skills, her hands become fisted and wrists bent inwards and she is unable to move but that doesn’t stop her from continuing what she was doing, she’s completely dependent on me for everyday life, eg ; eating, dressing, toileting, self-care and assistance with walking sometimes. We use her adaptive stroller/wheelchair when out and about in open space because it becomes to much for her to balance herself and also because of her seizures.
She has difficulty eating at times with lots of gagging, we have tried medications for acid reflux with no success.
She has been grabbing her head in what seems to be shocks of pain and so we are now awaiting another MRI.
So what is KCNB1?
KCNB1 is a voltage-gated potassium channel. Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Those with a KCNB1 genetic mutation typically suffer encephalopathy, refractory seizures, polyseizure profiles, abnormal EEG, developmental delay, speech language impairment, features of Autism, hypotonia, cognitive impairment, movement disorders, vision changes, GI issues, sleep disturbances, and are at higher risk for Long QT and SUDEP (sudden unexpected death due to Epilepsy). Currently, there are just over 120 known cases of KCNB1 in the world.
RianaFaith is a child who is a very busy little who requires complete 1:1 supervision during all times and cannot be left alone.
Riri and I continue our journey together to find out more about KCNB1 and what the future holds. One thing is for sure – this little girl isn’t giving up too easily, she is determined and she’s quite the fighter.
She is My Warrior!! My Hero!
Thank you
Claudia