Destiny’s Story
Destiny is a 23-year-old from South Carolina. She is funny, kind, loving, and brings so much joy to everyone around her. She loves attending her therapies and enjoys learning new things. She especially loves butterflies, unicorns, anything sparkly, the colors pink and rose gold, and anything beautiful. Her Christian faith is central to her life, and she loves Jesus and God. She also loves her dogs, shopping, spending time on social media, Bluey, Disney movies, swinging, her stuffed animals, and her baby bottle and pacifier because they help comfort and soothe her.
Variant: c.2750G>A (p.Trp917Ter)
History
Destiny was born in 2003 and is the second oldest of our four children. Our family consists of Dad (Ladson), her older brother (Jon), and her two younger brothers, who live with their mom. Her siblings are very close in age. Her oldest brother is 11 months older than she is, her second brother is 11 months younger, and her youngest brother is three years younger. They grew up together and made many childhood memories.
Destiny was an easy, happy baby who loved being around people. Due to hypotonia, from birth through age three, she received Early Intervention services through BabyNet, including speech therapy, occupational therapy, and physical therapy.
Looking back, there were signs that something was different, but we had no idea there was an underlying genetic condition. Destiny began wearing glasses in fourth grade, and throughout childhood she experienced developmental delays and learning challenges. Although she began talking around age four, her speech often remained difficult for others to understand.
For years, she would have episodes where she appeared to simply "zone out." We thought she was daydreaming, but years later we learned these episodes were actually absence seizures. We now know these were part of her CACNA1A-related disorder.
Destiny graduated from high school and will need lifelong support. While she won’t be able to live independently, she continues to work incredibly hard every day. Many of the skills that come naturally to others require tremendous effort for her, yet she never gives up. She has Autism Spectrum Disorder Level 2, and despite the challenges she faces, she continues to inspire us with her determination, kindness, and joyful spirit.
When Destiny was 21 years old, our family finally received answers. She was diagnosed with both a CACNA1A-related disorder and Autism Spectrum Disorder Level 2. While receiving the diagnosis brought many emotions, it also helped explain so many things we had wondered about throughout her childhood.
During her senior year of high school, Destiny was treated with antiseizure medication for about one year before it was discontinued. Although her absence seizures continued over the years, the generalized shaking seizures did not start until July 2026.
At that time, our family experienced one of the most difficult seasons of our lives. Destiny had two prolonged generalized shaking seizures within two weeks. These events required emergency medical care and resulted in restarting the antiseizure medication Keppra (500mg twice a day). She now also has rescue medication available for prolonged seizures while her medical team continues evaluating her seizure type.
Destiny also experiences frequent migraines.
Her balance has always been affected, but after the prolonged seizures in July 2026, it became significantly worse. She continues working with her medical team and therapists to improve her balance, strength, and overall safety.
Therapies
Therapy has always been an important part of Destiny's life. She continues to attend speech therapy and occupational therapy and is preparing to begin physical therapy to address her balance and mobility. She also participated in Applied Behavior Analysis (ABA) therapy every week until she turned 21, when her insurance stopped covering adult ABA services. Because ABA has helped her so much throughout her life, our family now pays out of pocket so she can continue attending monthly sessions. We believe these services have helped her become more independent and continue learning important life skills. But we hope one day insurance will change and cover adults over 21 as well.
Destiny also uses an Augmentative and Alternative Communication (AAC) device when she becomes non-speaking during autistic meltdowns or when speaking becomes difficult.
Education
Destiny attended our local public school from first grade through twelfth grade. Our area did not have a school specifically designed for students with significant support needs, so she remained in the public school system throughout her education, but she always struggled and was way behind her peers, which she still is.
Graduating from high school was a tremendous accomplishment, and we are incredibly proud of everything she did to reach that milestone.
We hope that one day our community will have schools and educational programs specifically designed for children and adults with significant support needs. Looking back, we believe additional specialized educational opportunities would have helped Destiny learn more effectively and better prepare her for adulthood.
Although Destiny is 23 years old, her developmental level is much younger, and we estimate that she functions similarly to a child between approximately 8 and 13 years old, but mentally she is more like a 9-year-old. Even so, she continues to learn, grow, and surprise us every day.
Diagnoses
CACNA1A-related disorder
Autism Spectrum Disorder Level 2
Intellectual Disability
ADHD
Seizure disorder (currently undergoing additional evaluation to better classify her seizures)
Hypotonia (low muscle tone)
Migraines
For Those Newly Diagnosed
If your child has recently been diagnosed with a CACNA1A-related disorder, please know that you are not alone.
Receiving a diagnosis can bring many emotions. It's okay to grieve the future you once imagined while also learning to celebrate the unique person your child is becoming.
Build a strong support system. Ask questions. Connect with other families who understand your journey. Advocate for your child, and don't be afraid to seek therapies and services that can help them reach their fullest potential.
Most importantly, remember to care for yourself too. Parenting a child with complex medical and developmental needs can be overwhelming, but you don't have to walk that journey alone.
Celebrate every milestone, no matter how small. Every new skill, every achievement, and every step forward deserves to be celebrated.
Although living with CACNA1A-related disorder has brought many unexpected challenges into our lives, it has also shown us the incredible strength, resilience, and determination that lives within our daughter. She reminds us every day that progress isn't measured by how quickly someone reaches a milestone but by the courage they show in continuing to move forward.
We hope that by sharing Destiny's story, other families will find hope, encouragement, and reassurance that they are never alone on this journey.
