Yesterday was one of those big days where at the end you can't sleep because your mind is absolutely too tired yet spinning from the chaos of the day. Sam had some puss come out of his biopsy site with some redness and pain so I took him to the Dr. He was prescribed antibiotics and they did a culture. He was not running general fever so for that I am thankful. It was a busy day of therapy and picking up kids, voting and a soccer game that night but we managed to squeeze in a picnic at the playground park which helped to run off some of Sofie's boundless energy. Right before the soccer game, amidst crazy stress of feeding the girls and getting Bella into her Soccer uniform.. and I must confess that included pulling her jersey from Saturday's game out of the dirty hamper because mom is behind on laundry..but all of a sudden the phone rang.
I had to hush everyone to process who it was and what they were telling me. It was the Dr from Atlanta at the MNG lab where they are searching for answers for Samuel. It was 7 pm there and they were calling because they did not want to hesitate in calling us with data pulled from the lumbar puncture (spinal fluid). It is the first test that is back and apparently everything else takes 6-8 weeks maybe longer but it told them that Sam's Pyridoxal 5-phosphate was deficient and that this is a serious dificiency that can cause seizures, neurological damage (encepholopathy) which is something we have been told he shows on EEG, and that it can be linked to many other problems. Peridoxal 5-Phosphate deficiency can apparently be caused by different problems and in his case they don't know the source yet or if it is just part of his problems. There is a recessive gene issue where both parents have to carry the recessive gene which can be linked to this but it also could be part of a larger metabolic issue I guess. She went on to tell me there is a treatment but he would need to be watched closely for any toxic side effects. We basically have to start giving him large doses of this vitamin P5P, a coenzyme of B6. So we have been told to start at a dose of 100 mg 3x daily (300 mg). I have read about cases where within minutes the kids who have this dificiency start showing normal EEGs and start doing much better. Of course Sam displays many different symptoms so I don't know if all are related to this piece of the puzzle but I am hopeful we will see positive results. I am having to put aside my frustration that this was never discovered earlier.. I don't know how many times a spinal tap was dicussed and never done and that was far earlier at 1 month of age. The research makes me sick as it says that if caught early enough long term damage can be avoided but in later cases kids have shown decreased neuro capacity and speech and hearing problems, vision issues etc.. I just feel sick..
So then she tells me that the stuff is available over the counter and can be crushed up. She also gave me an item to take off our long list of things they are looking for in the labs - cerebral folate issues are off our list. She also told me that our resting metabolic rate test which was done in Atlanta was abnormal. This was the test where they put him a tent and passed air through it while he was sleeping very still. Abnormal can mean many things but basically it tells them to look deeper into the metabolic chain. She is hoping the muscle biopsy tells us if there is a problem along the chain of his mitochondria or of a metabolic, myopathy nature. By this time I became keyed up and nervous when I had been staying relatively calm. So I raced out to publix and found out the only place I am likely to find the P5P I need is at GNC or Golden Almond or somewhere like that. Jason raced over to GNC before they closed after the game but to no avail.. so we bought some online and had it shipped but that feels like it will take forever so I need to work on finding it locally this morning..I don't want one more hour of neuro damage to be going on that is preventable. I am just sooo angry that we did not see this earlier. The absolute crazy thing is that a cousin of mine had emailed this summer about this type of deficiency being its own category of epilepsy of which I said I did not think it could be it since we had so many other issues and that at the time they had decided he was not having seizures since they had not captured any on EEG and since the found the tracheomalacia which they thought was the cause of his bradys. Now I am reading that this vitamin deficiency could be responsible for the bradys as well as seizures and the pauses of his asystole.. UGHH. I am just sick.
At least God is answering our prayers for more information and shedding some light for us however hard it is to hear. I am so thankful that God is working with these smart physicians to bring about some answers. Now I just got to get my hands on the meds to help him. That pkg can't come soon enough.. why don't we live in a big city where this stuff is more readily available? Online it looks available in every vitamin shop in larger cities.
Lord, please give us hope that Sam won't suffer lasting damage from this deficiency. We are in need of patience and calm and peace while we await all the lab testing results. We are so thankful for the gift of this new knowledge although we don't yet fully understand the larger cause. Please help us to access the vitamins he needs as soon as we can. Thank you Lord for Samuel and giving us a chance to help him. Please lift the names and families that you know are on our hearts right now for all their struggles and pain. Amen