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Maverick was a full term baby born via C-section. He went home at 4 days old but shortly after being home stopped eating. Along with being jaundiced, I noticed what I was calling spasms. At 6 days old and over 8 hours without eating Dr’s recommended we take him to Rady Children’s Hospital in San Diego which is a level 1 pediatric facility. During examination, Maverick was vomiting blood and Dr’s noticed that what I thought were spasms were actually seizures and admitted him into the NICU.
There they hooked him up to an EEG and started running dozens of tests including a spinal tap to try and figure out what was wrong. They went through the standard seizure protocol and moved from medication to medication with no avail. Maverick at this time was having up to 30 seizures an hour, so to minimize damage on his brain they intubated him and sedated him. At day 7 of uncontrolled seizures, Maverick’s other organs had started failing due to the trauma and they let us know that if things continued the way they were that they were giving him two weeks to live.
They happened to be running a clinical trial for rapid genome sequencing at the hospital and they asked if we wanted to enroll. They explained that while genome sequencing could help identify a diagnosis and possible treatment options, there were no guarantees. Clinging to hope, we agreed to participate, and blood was drawn from both Maverick and us.
The doctors were able to complete Maverick’s genome sequencing in just 39 hours—a process that usually takes four weeks. During this time, they had also escalated his treatment to include Vitamin B6, although it hadn’t yet been effective due to the short duration of administration. The rapid sequencing revealed that Maverick had Pyridoxine Dependent Epilepsy, which allowed his NICU doctors to adjust his treatment plan accordingly. Within 36 hours of starting the appropriate B6 dosage, his seizures completely stopped. Just a week later, we were able to take him home.
Maverick today is a happy, friendly 7 year old boy. He enjoys Baseball, trucks, and legos. He is slightly behind cognitively than other kids his age but he is being helped by multiple different therapists to help him continue to grow. His seizures have been controlled for the past 2 years with all previous ‘breakthrough’ seizures being fibril seizures.
