May 31, 2023
Dr. Deb Ondrasik is a pediatrician based in Massachusetts, and the topic today is the CACNA1A Foundation and its work on raising awareness about developmental disabilities. Deb's daughter was diagnosed in 2015 as one of eight children worldwide with a CACNA1A gene mutation causing epileptic encephalopathy. This is a story about the need for whole genome sequencing to determine the root cause of childhood developmental delays and the value of this information for developing a treatment plan.
Deb explains, "CACNA1A is a genetic mutation that's a group of diseases that can present in a number of different ways. It's mutations along a gene that affects the calcium channels and the neurons, and it's on chromosome 19. And so, there are numerous hundreds of different point mutations that could present a little differently. But kiddos can have anything from developmental delays to autism to epileptic encephalopathy, which my daughter has. Also, there are other conditions like hemiplegic migraines. And so, it is a variety of neurodevelopmental disorders that can be presenting."
"I work as a general pediatrician. I see a lot of kids that have delays and significant delays or autism or epilepsy. And oftentimes, the families are told that that's the diagnosis. Your child has epilepsy, and we're going to give them some meds and see if we can control it. Or, if your child has autism, we're going to get them into therapy, which is partly correct. Medication is super helpful, and therapy is super helpful. But I think what's really important is to try to find the root cause of the symptoms, which are epilepsy, autism delays. And oftentimes, for some reason, pediatricians and even neurologists don't always go ahead and do the genetic testing."
#CACNA1AFoundation #CureCACNA1A #RareDiseases #RareDiseaseAwareness #CACNA1AAwareness #PatientAdvocacy #CACNA1AResearch #Epilepsy #IntellectualDisabilities #CerebellarAtrophy #CongenitalAtaxia #CaregiverSupport #WholeGenomeSequencing
