Our Journey with Pyridoxine-Dependent Epilepsy (PDE)

October 12, 2023

We wrote this story about Andre in 2014 when he was 3 years old. We wanted to post it as it was to be able to reflect back on where we were and where we are now.

Child with Pyridoxine-Dependent Epilepsy

Our Journey with Pyridoxine-Dependent Epilepsy (PDE)

Our story began on a summer day, July 17, 2011, at Cedars-Sinai Medical Center in Los Angeles, CA. The pregnancy had been uneventful, and with my second child on the way, I was filled with confidence and anticipation. My first child, Jenny, was a healthy teenager at that time, and I had no reason to suspect that anything would be different with Andre.

The delivery went smoothly, but there was a subtle difference that raised concerns—Andre was noticeably jittery upon his arrival, catching the attention of the medical team. In response, they conducted a blood sugar test, which fortunately returned within normal limits. However, his behavior didn’t align with our prior experience with Jenny. Instead of peaceful sleep, he barely slept and, rather than the typical cries, emitted short, piercing screams throughout the night.

Despite these early signs, we tried to reassure ourselves that everything was alright, but a mother’s intuition can be powerful, and deep down, we knew something needed attention.

That morning, something peculiar began to unfold. Andre refused to breastfeed and, after being fed with a milk formula, he vomited, and his skin took on an alarming blue hue. Concerned, we consulted the nurses, who suggested warming him under a heat lamp. It offered temporary relief, but his tiny hands and legs continued to shake, and seizures persisted, leaving us bewildered. The seizures continued with some intervals as Andre was not able to feed and was put on a feeding tube. The doctors were indecisive and said they had never seen anything similar before.

The medical staff at Cedars-Sinai, renowned for their expertise, puzzled over Andre’s condition. More than 30 neurology specialists were consulted, yet none could identify the cause. Their uncertainty was disheartening. Even the ocular specialist noted “reduced vision” in our convulsing two-day-old child, further exacerbating our anxiety. The only consensus was that this was not classical epilepsy, as Andre’s electroencephalogram showed no detectable abnormalities (a conclusion we later came to doubt).

Andre’s primary neurologist initially prescribed Keppra (Levetiracetam), an anticonvulsant used to treat epilepsy. However, it had no effect, and we were assured that it needed time to work. It became apparent that continuing down this path would yield no answers.

It was only after we sought a second opinion at UCLA Hospital’s emergency room that Dr. Jason Lerner recognized the epileptic nature of Andre’s seizures, contradicting our earlier diagnosis. A single injection of phenobarbital brought relief within minutes, and B6-dependent epilepsy was suspected and later confirmed through administering two doses of pyridoxine (he did not react to the first one) and DNA analysis later.

The genetic analysis revealed mutations in both alleles of the go ahead and list the gene name gene responsible for encoding Antiquitin, a protein involved in lysine metabolism. Neither of us, Andre’s parents, exhibited symptoms of Pyridoxine-Dependent Epilepsy (PDE) because our healthy alleles compensated for the mutated ones in our son. Andre’s mutations resulted in a non-functional protein and an abnormal amino acid substitution, contributing to his condition.

Andre now receives daily pyridoxine supplementation, which has kept his seizures at bay, but faces other challenges in development as compared to healthy children.

Despite the challenges, Andre, at almost 3 years old, is a remarkable child, understanding commands in both Russian and English. Although he has not started speaking, our hope remains strong.

We remain grateful for the diagnosis by Dr. Lerner, but we mourn the critical time lost due to the initial misdiagnosis. Our story is a testament to the importance of early detection and competent medical care in the face of rare diseases like Pyridoxine-Dependent Epilepsy (PDE). We share our experience with the hope that it may guide others on their own journeys and contribute to greater awareness of this condition.

Our Journey Part 2: Triumphs and Challenges

Leave a Reply

Your email address will not be published. Required fields are marked *

© 2023 Cure PDE Foundation | All Rights Reserved | Terms of Use | Privacy Policy