Over the next few days, we enjoyed having our son home for the first time. Jorgito was circumsized at Martin Army Community Hospital on Wednesday, October 6th, with no complications, and on Friday, October 8th, he had his first check-up with the pediatrician whom was recommended to us by the NICU nurses, Dr. Richard Mansfield. He was given a clean bill of health, and sent home, but that evening Jorgito became increasingly aggitated. Although he took his medicine, it was a challenge to keep it in him (Phenobarbital tastes horrible) and he began to spit up more and more often.
On Saturday, October 9th, Jorgito was introduced to his great-grandparents (Omi and Opi) and he had a good visit with them, but by the evening was crying on and off, had developed diarrhea, was spitting up and refusing to eat. We called the pediatrician, and were told to take Jorgito to the Pediatrics After Hours Clinic at the hospital where he was born. Dr. Mansfield was on duty that night, and could immediately tell the difference in Jorgito from our appointment the day before; he quickly confirmed that our son was in full status epilepticus, and arrangements were made to readmit him to the NICU.
The neonatalogists, Dr. Levy, Dr. Levine and Dr. Cason were able to get Jorgito's seizures under control with Ativan, and they only kept him as an inpatient for a few days. It was believed that he went into status as a result of his Phenobarbital levels dipping too low, and once they were stabilized, he was discharged home again on Wednesday, October 13th, on a higher dose of Phenobarbital.
We were again hopeful that our son would remain healthy, but were heartbroken to wake up the next morning and immediately recognizing seizure activity. Jorge and I rushed him to the ER expecting that he would be quickly readmitted, but were shocked to be kept in a waiting area because (as we were told) "there is no obvious seizure activity." By this point, we had become experts in recognizing Jorgito's seizures (which can be very subtle until developing into full status) and we were starting to panic as our son was not treated- thank God, a hospital Chaplain recognized us from our earlier hospitalllizations and intervened on our behalf. He convinced the on-call doctor to contact the neonatalogists in the NICU who immediately readmitted Jorgito to the Pediatric Intensive Care Unit (PICU) so that his room would be big enough for Jorge and me to stay with the baby.
The seizures were again stopped fairly quickly with Ativan, and Jorge and I did stay with Jorgito during his entire stay in the PICU, only taking breaks while his grandma was able to stay with him. More tests were done without getting any further answers,a nd we began planning to bring him home again on Phenobarbital. After talking and praying about it, Jorge and I made the decision that we absolutely wanted Jorgito to be transferred as an inpatient to Children's Healthcare of Atlanta at Egleston, 3 hours north of us, in Atlanta, Georgia. Jorgito had not been examined by a pediatric neurologist (because there aren't any in Columbus) and we weren't ready to accept that our baby could continue seizing without us being able to help him. Egleston agreed to take Jorgito, but we had to wait until a bed became available in the NICU there.
On Saturday, October 16th, Dr. Mansfield ordered that Jorgito receive a dose of vitamins by IV, including 100 mg of Pyridoxine (vitamin B6). Although all of the doctors involved agreed that the likelihood of it having any effect at all was very slim, the vitamins were administered "just in case." In retrospect, Jorgito had a remarkable improvement that evening and the early part of the next day. However, it was hard to know whether it was the vitamins or adjusting his Phenobarbital that had the positive effect, and at that point, we were already preparing for the trip to Atlanta, so no connection was made.
We were transferred to Egleston on Monday, October 18th, where a whole team was assembled (including neonatalogists, nutritionists and geneticists) who tested for everything they could. All of Jorgito's tests came back normal! His only abnormal EEG (electroencephalograph) was right after birth, but all of the others were normal. After 5 days of tests, his pediatric neurologist, Dr. Philip Holt, decided to do a 24-hour EEG; in the beginning, several periods of seizure activity showed up (although Jorgito was sleeping peacefully at the time, so we wouldn't even have known he was seizing). Dr. Holt administered 100 mg of vitamin B6 by IV, and the seizures stopped immediately. Continued EEG for 24 hours showed no more seizure activity.
So, we finally had our diagnosis! Pyridoxine (vitamin B6) Dependency is an extremely rare, autosomal recessive genetic error in metabolism which causes the body to not process vitamin B6 properly. Pyridoxine-Dependent seizures (PDS) is a rare cause of stubborn, difficult to control (intractable) newborn seizures, of which slightly more than 100 cases have now been documented. PDS presents in a variety of forms with variable signs and symptoms. The one clinical feature characteristic of all patients with PDS is intractable seizures that are not controlled with anticonvulsants but which do respond both clinically and on EEG to large daily doses of Pyridoxine. These patients are not Pyridoxine deficient; they are metobolically dependent on the vitamin. In other words, without Pyridoxine supplementation, the patient's blood level of Pyridoxine is normal but the patient will have seizures. With supplemental Pyridoxine, their blood level is normal or elevated, but they will not experience seizures. Pyridoxine therapy is required for life, in increasing amounts as body weight increases.
Jorgito is now doing extremely well with physical therapy, occupational therapy, speech therapy and continued follow-up with Dr. Holt, and several other specialists. We're constantly amazed by his progress, and are confident that he has a bright future ahead of him. We're so happy to share our little angel with the world!