Our Journey with PCDH19 Epilepsy

Our daughter Palakshi experienced her first seizure when she was just 3 months and 13 days old, and it changed our lives forever. At the time, I was in Burhanpur, MP, India, and had taken her to the clinic for her Rotavirus (RV) vaccine. The doctor advised me not to feed her for at least an hour afterward. I followed those instructions carefully. But when I finally picked her up to feed her, she suddenly let out a loud scream — a sound that shook me. My mother thought maybe she was startled by something. Within a few seconds, she looked completely normal again. We didn’t think much about it. But within the next hour, it happened again. And again.

That’s when we rushed her to the hospital, where my father, a pediatrician, was present. The seizures repeated in front of the hospital staff, too. The pediatrician advised us to admit her immediately. After initial treatment, the seizures kept repeating. After two days of treatment, we were referred to a neurologist, and on that same day, her seizures finally stopped. We did an EEG, but surprisingly, the report came back normal. Still, the neurologist prescribed medicine and gave us a nasal spray for emergencies, showing us exactly how to use it. In my heart, I believed it was a one-time thing — just a bad day. I told myself, "I’m never going to need that spray again,” but I was wrong.

When Palakshi was 5 months old, the seizures returned. She had to be hospitalized again — this time in Pune. Her father was with us, and we both felt lost, scared, and helpless. There was still no diagnosis, and the treatment felt uncertain. A pediatrician there suggested we see another well-known neurologist, who advised us to go for an MRI. Watching our 5-month-old baby go into that big machine under anesthesia was one of the hardest moments of my life. The MRI showed no abnormalities.

Palakshi continued to be on medication since she was 3 months old. Later, when she was diagnosed with dengue and was hospitalized again, our pediatric neurologist recommended that we consider a genetic test for better clarity. We followed his advice, and at the age of 1 year and 6 months, we got her genetic testing done. On July 23, 2020, we finally received the answer we had been searching for: Palakshi was diagnosed with PCDH19-related epilepsy — a rare genetic disorder that explains her early, fever-free, and cluster seizures.

One of the biggest challenges we faced was the uncertainty, watching our little girl have seizures without any clear answers. The lack of awareness about PCDH19 made the early days overwhelming. From hospital visits, multiple medications, and traveling between cities for diagnosis, to facing emotional guilt and fear as parents, it was a heavy journey.

What helped us through was persistence, faith, and knowledge. We kept seeking answers, trusted the advice of experienced doctors, and eventually pushed for a genetic test, which led us to a diagnosis. Beyond the medical side, it was the emotional strength we built — accepting our daughter for who she is, learning how to support her needs, and believing that love, routine, and awareness are more powerful than fear. We also began connecting with other families, which gave us a sense of belonging and hope. Sharing our journey now is not just healing for us, but a way to help others walk this path with strength.

As a parent of a child living with a rare genetic epilepsy (PCDH19), I want to say this: You are not alone, and you are not to blame. The journey may be overwhelming, but your love, strength, and patience matter more than you realize. There will be moments of fear, but there will also be moments of courage and hope. Don’t lose faith — your story is powerful, and by sharing it, you’re helping others find light in their struggles. Keep moving forward, one step at a time.

I decided to share our story because I know how lonely and confusing it feels to face something so rare and unexpected. When my daughter was diagnosed with PCDH19 epilepsy, we had no idea what it was or where to turn. I don’t want any other parent to feel that same helplessness. By telling our story, I hope to create awareness, connect with other families, and offer the emotional support and guidance we once needed. If even one parent feels less alone or more informed because of our experience, then sharing our journey is truly worth it.

You are not alone. Let’s support each other. Let’s make rare known.