Ani’s Story
Ani, who is currently ten years old, was diagnosed with a CACNA1A variant when she was three years old. According to her father, Marino, who writes to us from Croatia, “Ani is the ultimate boss of the family, yet is a very sensitive and emotional little creature.” Ani has made their lives a bit harder but so full of joy and play at the same time. Ani loves all kinds of music, especially watching drummers and DJs. She also loves spending time with dogs, although she prefers large ones to small ones :) and loves to play with her older sister Alice (14), a caregiving girl, although admittedly, she likes to tease Ani. Croatia is a small country, and it’s hard to get accurate information, so Marino and Ani’s mother, Ljubica, are glad for this opportunity to help grow the CACNA1A community and make the world better for all of our children.
Variant: A1808S de novo
History
Ani has global developmental delays. She does not walk independently and uses a wheelchair. She is also nonverbal, but you can easily understand her through one of the thousands of expressions on her face and her extensive hand gestures. Ani has had hemiplegic migraines a couple of times, mainly after some shock or fear caused by almost falling off her wheelchair, which she drives like a race car. She also has a visual impairment and myopia (nearsightedness), but according to her father, when you see her driving the wheelchair and how she does it, you would never tell. She had experienced nystagmus early on a lot, which somehow, over time, has become rare to non-existent. Strabismus also started heavily, but now it is much better.
Ani has severe OCD, which keeps the household under control. Every little thing has to be in its place; every procedure has to be how she wants it, from feeding, playing, going out, and sleeping. If the rest of the family doesn’t play along, she gets very annoyed if things are not like she wants them :)
Ani doesn't like construction noises unless she is literally involved in them. For example, she's okay with a drill if she is the one holding it, but if she isn’t, she gets annoyed by the noises easily.
Marino writes, “It's a funny world full of dedicated things that have to be her way, but on the other hand, sometimes she does let us hug her :))”
Ani also loves breaking stuff. She is so swift if she sees an opportunity to throw something on the floor. We think it boosts her with momentary adrenaline, which she likes. As a result, we keep our home purely blank and basic :)
Diagnoses
CACNA1A gene mutation
Global Developmental Delay
Ataxia
Autism Spectrum Disorder
Obsessive Compulsive Disorder
Hemiplegic Migraines
For Those Newly Diagnosed
We hope for some future progress in research and are glad to reach out to the community. Seven or eight years ago, there was so little information about Cacna1a online compared to today. We are really glad something is happening and are willing to participate in any research studies if needed. In the end, it is the condition that you have to get used to, and all that matters to us is keeping Ani as happy as possible.
