Quintin (age 7)
De Novo Splice Mutation
Hi, I'm Quintin, but everyone calls me, "Q". I live in New York with my mom, dad, and two older brothers, Robert (13) and Aedan (10).
I am 7 years old.
I love spending time with my family and classmates. I especially love swimming in the therapy pool at school, listening to stories, and dancing to music!
As a result of my SCN2a gene mutation, I'm Intellectually disabled, have epilepsy, microcephaly, apraxia of speech, hypotonia, dysautonomia, and global motor delays. Despite all of these challenges, I never give up...Hope!
Gianna (age 2)
De Novo Frameshift / Protein Truncating Mutation
Hi! I'm Gianna from New York. I live with my Mom, Dad, and dog, Nugget! In my case, the SCN2A mutation has caused Global Developmental Delay, Hypotonia, Intellectual Disability, Sensory & Auditory Processing Disorders, Benign Shuddering spells, as well as many Autistic tendencies. However, I am not believed to be on the spectrum and I’ve never had a seizure. I am currently non-verbal, but I’ve started making promising sounds and gestures. At 6 months old, I began receiving numerous therapy sessions and am currently in 17 a week! With all that hard work, I’ve made great progress. I just started attending a toddler development group run through the New York State Early Intervention Program. I’m learning so much thanks to my amazing teachers and 1:1 aid! I love, Elmo, playing peek-a-boo, popping bubbles, singing, books, and splashing in my dogs water bowl (even though my parents try* to stop me).
SCN2A CHILD SPOTLIGHT
Here you will find featured children who are affected by a variant or change of the SCN2A gene. The spotlight will share their location, a little bit about their favorite things and how they are affected by SCN2A. Each kid is unique in their presentation and we hope to showcase how special each child is! To have your child featured please email kristy.kargel@scn2a.org
To submit your child for the SCN2a Child Spotlight email kristykargel@scn2a.org
Please submit a close up photo (largest size possible), your child's age, grade, gene: deletion, duplication, mutation, nonsense, missense, de novo, inherit (if known), location (state/country), how your child presents and diagnosis, and something fun: likes, talents, etc. You must also state in your email that you give FamilieSCN2a permission to use this information on social media, marketing materials and on the web site.
Mark (age 3)
De Novo Missense Mutation
Hi! I'm Mark. I'm from Maryland, where I live with mom, dad and sister Jillian (5). I love to laugh and tickles are my favorite! I go to a special preschool for children with autism because I was diagnosed with Autism Spectrum Disorder as a result of my SCN2a mutation. I also have a Central Nervous System disorder with Minor Neuromotor Abnormalities, Hyptonia, Mixed Receptive-Expressive Language disorder, sensory processing difficulties, gross motor delay, and Global Developmental Delay. You'll find me swinging in my therapy swing, watching Daniel Tiger and pulling my play lawn mower everywhere!
Emily (age 12)
De Novo Missense Mutation
Hi, I'm Emily. I am in 6th grade and attend most of my day in a regular education setting. I live in Minnesota with my: mom, dad, sister Isabelle (9) and dog Tito. As a result of a mutation of the SCN2a gene I have a diagnosis of migrating partial epilepsy of infancy (MPEI), autism, neuropathic pain, dystonia, dysautonomia, cortical visual impairment (CVI) and I am non-ambulatory and non-verbal. My special talent is keeping secrets and bringing a smile to people's faces. I'm a Cadette in Girl Scouts, love to swim, music, roller-coasters, and flying through the air in my circus class! I believe in hope!
Eva (age 22 months)
De Novo Mutation
Hi, I’m Eva and
I am from Sydney Australia.
My favourite things to do are eat food (mostly red meat), smile, giggle and just be cheeky. I love mummy and daddy but I especially love cuddles. Don’t ever enter a room without saying hello to me and giving me a kiss.
I have a diagnosis of Epilepsy from day 3 of life, dystonia, severe developmental delay and CVI.
I am working very hard to be my best and my physio thinks I am killing it!! I get my new walking frame next year in Raspberry colour and it has a unicorn on the front. Once I recover from my hip dysplasia surgery early 2018 I’m off and racing. Just try and stop me!
Levi (age 6)
Heterozygous
2 paternally inherited Nucleotide changes / 2 recessive
Hi! I'm Levi from Kitimat, BC Canada.
My favorite things are: school (LOVES), going for walks & being outside, looking at books, being held, action songs, shaking/tapping toys, and hanging out with my big sister Dylan(11)!
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As a result of these mutations I have a
severe seizure disorder (with 1 1/2 years seizure free on Clobezam), painful dystonia,hyperkinetic movement disorder, extreme sleep disorder, I'm g-tube fed, immobile but learning to step and stand, non verbal, intellectually & global developmental delay, Autistic like tendencies with Sensory Processing Disorder.
Despite all of these challenges, Levi continues to conquer each day with a smile that will melt your heart.
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Levi has taught his family about the important things in life, and to cherish every moment. He has touched many hearts with his amazing strength and strong spirit. Levi makes this world a better place and fills our hearts with HOPE!
