While many children experience eating issues when they are young, children with developmental disabilities have much higher rates of "selective eating" than their typical peers. CACNA1A disorders can be associated with feeding issues as a result of autism, sensory processing deficits, motor impairments due to ataxia, or food intolerances. CACNA1A mom, Celine Carayon, explains that what she thought were “latching” and “reflux problems” when her daughter was a baby turned out to be connected to her congenital ataxia, which has also affected her speech. Celine is not alone in this struggle: in fact, 80% of kids with special needs experience some sort of feeding difficulty. Celine was excited to discover that the NAPA Center (NAPA) offers a number of free online resources and tips that can be helpful to CACNA1A families like hers. While NAPA focuses on early intervention, these are life-long issues and may be of interest to parents of older children or adults.

The world of cortical vision impairment (CVI) introduced my family and me to a whole new “language” regarding vision. We learned that for children who are born with CVI, getting this diagnosis early in life is crucial. It’s critical for any child diagnosed with CVI to be assessed with the CVI Range as early as possible because it provides the framework for individualized interventions.

Our family was catapulted into the world of cortical vision impairment (CVI) after our youngest daughter, Addilynn, experienced a status epilepticus event that resulted in her suffering a traumatic brain injury (TBI) at the age of three.

There are a few medical emergencies that can be caused by CACNA1A variants, including seizures and hemiplegic migraines. A Seizure (or hemiplegic migraine) Action Plan contains tailored guidelines on how to respond during a seizure or hemiplegic migraine, based on the patient’s medical history. It includes health and medical information specific to the patient. Importantly, a plan helps others to recognize seizures or hemiplegic migraines and details steps that can and should be taken to keep him or her safe from injury or damage caused by CACNA1A-related neurological events.

The CACNA1A Natural History Study, designed and vetted by the Chung Lab at Columbia University, will provide valuable information to doctors and scientists about CACNA1A related disorders. Individuals will be asked to fill out detailed health questionnaires and provide comprehensive medical data, including MRIs and EEGs. The study has been approved by Columbia University’s Institutional Review Board (IRB), and all information will be de-identified and safely stored. Annual updates will characterize the course of the disease over time. It is a huge endeavor but by participating and telling your story, you will directly advance research on CACNA1A related disorders and contribute to a cure!

For all its challenges, 2020 was a transformative year in many ways. As our country continues to navigate the current challenges, including and especially the widespread impact of the COVID-19 pandemic, we have been heartened to see an overwhelming response to the CACNA1A Foundation’s work.

Joyce Lucas, MA, OTR/L writes about teaching a student with a CACNA1A variant to write her name independently utilizing low tech assistive technology for support.

This past weekend we hosted a booth in the nonprofit section of the virtual exhibit hall at the American Epilepsy Society’s (AES) annual meeting. This conference is the largest meeting and exhibition in the world for those who share the common scientific and clinical interests of epilepsy and clinical neurophysiology. AES typically attracts more than 5,000 attendees dedicated to improving the quality of life for people living with epilepsy. Our booth’s visitors included clinical neurologists, researchers, pharmaceutical companies, other rare disease groups and various epilepsy-related corporations. We made some excellent introductions and formed new relationships that will further our mission of accelerating CACNA1A research.

Many CACNA1A parents would argue a resounding, yes, there is a CACNA1A and autism connection. A quick search for “autism” in the CACNA1A/Cav 2.1 & Co. Facebook group reveals plenty of autism spectrum disorder (ASD) diagnoses and even more parents reporting autistic-like traits.

For those in the US, there is some exciting news regarding a new medication being developed for our children with Gain of Function variants. The CACNA1A Foundation recently had a call with Xenon Pharmaceuticals, a clinical-stage biopharmaceutical company committed to developing innovative therapeutics that will improve the lives of patients with neurological disorders and central nervous system (CNS) conditions, with a focus on epilepsy.