Audrey is 8 years old and was diagnosed at 10.5 months old with Microcephaly and Cask Gene Disorder. She is silly, sassy and brings so much joy with her smile. Audrey loves books, animals, French fries and going to school. She works hard every day at communicating on her talking device and walking independently!

Charlie is a twin who was born very prematurely at 29 weeks! For almost a year we were told that all of Charlie’s issues were due to her prematurity. Around 6 months of age, I really started to question this. Her twin Victoria was catching up with all milestones quite quickly forgetting she was a premie! Charlie had all these little quirky things that hindsight being what it is all pointed to a CASK diagnosis! She was already receiving a lot of early intervention services due to her prematurity at the time of CASK diagnosis which was right after she turned one. At that time, she wasn’t even sitting independently. With her rare genetic diagnosis, E.I. services and additional tested ramped up significantly. She is making strides and showing how strong and what a fighter she is all on Charlie time. She is kicking CASK, now attending a developmental preschool program. She loves Daniel Tiger, music, eating just about anything, and her family. She is a happy girl who we love dearly and are learning so much from! She is our very special CASK warrior.

Charlotte is a happy girl who loves to clap, jump and dance to music. She loves exploring outside , and her favourite things to do include swimming, playing on the playground and going to the zoo. Charlottes favourite place is the riverland where she spends time playing outside, exploring and swimming. Charlotte also enjoys going to school and playing with her younger brother.

Dori, our little sunshine, is a 15 year old with a diagnosis of CASK gene mutation. She is nonverbal, has intellectual disabilities and an autism diagnosis. She is typically happy, sweet, affectionate, and presents with contagious joy! This was our second pregnancy (Dori’s brother is 3+ years older). Pregnancy was full term and typical, C-section birth as planned, and a beautiful baby girl arrived! She had mild jaundice then poor sucking for breastfeeding and low tone. By 3 months old she began having extreme pain, screams and crying fits. The pediatrician became concerned each visit as he measured her head circumference. She was hospitalized for failure to thrive soon after and was given the diagnosis of microcephaly. By 10 months old, there was an unknown genetic disorder of some type, potential mitochondrial disorder, and a diagnosis of cerebral palsy (CP). That began the search all over the US for specialists, receiving test after test to determine what would lay ahead, while the CP diagnosis allowed for therapies to begin. While she does have microcephaly, it was found that the mitochondrial issues were indeed a "mitochondrial dysfunction", but still not the underlying cause of her presentation. By age 4, Dori received the diagnosis of CASK gene Mutation. We were unsure of so much - and doctors questioned if she would ever be able to walk or be mobile independently. Just after the age of 4, she took her first steps! What an exciting time that was! It was then that we realized that we needed a village! Between the medical specialists, therapists, caregivers, and educators, we created a community of support for her. She attends the public high school in the low incidence special education classroom. She receives private speech and music therapy as well as ABA therapy (Applied Behavioral Analysis).She is very involved in our local community. Dori is an ambassador for Carolina Children's Charity (a non-profit helping children in the Lowcountry with birth defects and diseases). She attends Seacoast Church which has an amazing special needs ministry and has joined the YoungLife Capernaum teenager/young adult youth group. She participates with Racers for Pacers for 5k races, being pushed in a fancy run chair. Each and every person that has come into her life has changed for the better because of Dori. While she may not talk with verbal words, Dori makes lots of sounds, babbles, "sings" with various inflictions in her sounds, and has a few words and meaningful sounds. She uses an ipad with the ProLoQuo program to communicate. She can "tell us" some things but needs encouragement to use her device. Some challenges are the continuous drool, occasional GI issues, and her self-biting (biting her left hand while punching her right fist into her left) when frustrated or upset. Most of the time distraction is a successful way to quickly alter this self injurious behavior. Dori truly enjoys life! She enjoys bowling, chasing the birds at the beach, riding in the golf cart (while listening to reggae of course), swimming in the pool, coloring, and watching shows about dogs! She recognizes familiar family and friends, and shows affection with hugs and rubs. She puts her cheek up to our mouth, and demands kisses. She says "Hiiiii" and "Hey" over and over when you walk in a room, and takes her hand to her mouth and acts as if to blow kisses when someone is leaving the room. She says Woof Woof and pants like a dog to interact while petting them (and jingling their collar for the sound). She laughs and giggles at Tom & Jerry and anything that makes a silly noise. Her simple excitement (with hand flapping too) and her happy squeals just make you smile. We are blessed by her abilities, and try not to focus on the disabilities!

Kennedy was diagnosed with pontocerebellar hypoplasia at age 1 month, and genetic testing led to her CASK diagnosis. She is pure sunshine, and can turn around anyone's day. Though she can't do many things yet, we can tell she yearns to, and are hopeful for future scientific breakthroughs.

Khloe is a goofy, silly, spunky girl whose personality radiates past her being nonverbal and I'm so glad I get to share her story.” CASK mama Katy writes: When Khloe was born, she weighed a whopping 9 lbs 5 oz and was 21 inches long. She was the perfect full-term baby. When I had her, she was the most beautiful chunky baby I had ever seen. We didn't start to notice anything in her development until she was about 6 months old when one day we took her to the doctor for her checkup and noticed Khloe's head circumference wasn't growing like it should. Khloe was then diagnosed with quadriplegic cerebral palsy. That day was by far one of the hardest days I've ever had to go through. They gave us the long talk about how she was probably never going to walk or be able to talk. After that day a lot of emotions went through me sadness, confusion, anger but at the same time I got to realize how much the little moments counted like watching her hit her milestones in therapy or being able to activate a switch toy or watching her face light up when her favorite song came on. When you meet Khloe you get to see just how much that little girls personality shines through. Khloe was diagnosed with CASK gene mutation about 4 yrs later. There are only a couple hundred cases in the entire world. Getting this answer was something that we had been waiting for, for so long that when I found out I was in complete shock. I cried and cried not out of sadness but out of relief we had answers. We later found out that there was a group on Facebook about kids with CASK and turns out a lot of them have the same facial features like Khloe and a lot of the same medical issues. Ever since getting Khloe's CASK diagnosis it has shed so much light on so many things. Khloe is a goofy, silly, spunky girl whose personality radiates past her being nonverbal and I'm so glad I get to share her story.

Joy is the first word that comes to mind every time someone asks what Maggie is like. Her smile and laugh can light up a room. Silly noises, light up toys, and her favorite books are sure ways to get the biggest smiles and are always her #1 motivators. She is sassy and so full of love!

Naleah Rose. This Girl! She runs our lives and can very quickly get any of us to do whatever she wants. I tell everyone I meet that she is my favorite person ever and I mean it with my whole heart, I wish everyone could see life through her eyes. She remind me every day to see joy in the small things. Being her mom I have learned to not sweat the small stuff, to be more kind to everyone I meet and to never give up just because something may be hard. Naleah loves to climb, loves all things water, loves any toy that lights up and make noise, thinks her brother hung the moon, has the best giggles and is my favorite snuggle partner. She is loved beyond words and we are so glad she is ours!