Stefanie - posted on 12/07/2009 ( 6 moms have responded )
When my 2 1/2 year old son was born we just thought he had colic. He screamed from the day we brought him home from the hosital. Non stop. You could never set him down. Then at 2 months while we are still thinking he has colic he began arching his back and throwing his fists in the air while screaming. It always seemed to be when he had a bowel movement. So we took him to the ER at Texas Childrens in Houston and also to the gastro doctor. Texas Childrens said it was immature bowels. Then he was doing the same movements while not going to the bathroom. It then escalated to where he would hold his breath after screaming and after he came out of it he had the postdicatal state in his face like after having a seizure. Pediatrician said some babies just hold their breath. Admitted him to hospital did an MRI, EEG and sleep apnea test on him to check him out for seizures. All came back good except for MRI....found he had partial agenesis of the corpus collosum and 2 archnoid cysts. Went to the Neruosurgeon. All looked good. Everything extemely tiny and have nothing to worry about. Even he saw Noah scream, hold his breath etc and he acted like it was no big deal. We had no answers to why he would hold his breath and scream or why he was delayed. His brain abnormalities could be a reason but according to the Neurosurgeon they werent. He would hold his breath a good 10-15 times a day. Needless to say at 18 months old he had a grand mal seizure in my car while asleep in his car seat. We called EMS and once admitted he was put on Phenobarbital. Immediately saw a new baby. He laughed and smiled. When we saw the Neurosurgeon she said he was probably having Infantile Spasms since 2 months old and it takes a trained eye to diagnose them. He had the ARX genetic test for Infantile Spasms but it came back Negative. To this day he has only held his breath a few times since that day in Sept 2008. He is still very delayed but is slowly getting there. He has seziures every week. His are cluster seizures and he only has them while he is asleep.Right now he is on Phenobarbital and Dilatin. They are now thinking he may have a Pyridoxal 5 Phosphate deficiency. His level was low when they did the spinal tap so we are now waiting to do the genetic test to see if he has the deficiency. If he does....that is why he has seizures they think. Has anyone else had the same experience or know anything about Pyridoxal 5 Phosphate? I have been looking for answers for over 2 years now.