It has been quite a full week for us. After learning from the people in Atlanta that his lumbar puncture results indicate a deficiency of pyridoxal 5- phosphate, a derivative of B6, we were asked to start supplementing him with a very large amount of the P-5-P. It is not the easiest vitamin supplement to procure locally but we got it and started it right away. I was rather nervous about the toxicity adverse side effects that can take place but so far no big problems. His urine has taken on a really particular smell and he began sleeping a whole bunch but I don't know if that is connected. There were days when he slept 5 hour stretches only to wake for an hour and go back into another 5 hour stretch repeatedly. Could be a growth spurt but I am highly curious if it is a growth spurt brought on by some normalizing of his brain activity as this is what they have seen in others with this deficiency after starting the treatment. There have been babies with abnormal brain activity on EEG (encepholopathy) as Sam has, that after the supplements were in their system, they began having normal EEGs. Please Lord let that be true for our Sam.
Normally your liver would pull this coenzyme derivative from B6 through a metabolic process but for whatever reason, Sam's may not be doing this properly. So what does that mean? Well we are still in wait of the results of all the testing they did with blood, urine, muscle biopsy and skin biopsy. They had also found his resting metabolic rate test to read as abnormal so something is going on but what is the whole picture..? We researched Pyridoxal 5-phosphate dificiency and a form of epilepsy dependent on this deficiency as this was the suspician of his specialist in Atlanta. This could explain many of his symptoms but not necessarily everything. There are genetic causes for this type of deficiency but there are many other causes as well. If his liver is having problems, that could be the source or if there are other metabolic issues, those could hold the answer. The mitochondrial disorders are the same way and it all could be down the pipe of one of those issues.. It could be genetic but also could be from trauma at birth or in utero which has always been our worry as the Drs and the hospitals actions seemed concerning to us, from what I have read trauma could cause mutations to the genes for the first time in him... not coming down the line from us but actually as a traumatic series of events. There could be damage to his cells from free radicals that are created by an anoxic or hypoxic event that led to a systematic damaging of the systems. There is just soo much to question that my mind can't hold it all. I am at times..overflowing with questions.
My mom had a concerning day this past week when she all of a sudden experienced two seperate instances of disorientation and foggy to no vision in her one eye. My sister took her to the ER they ran CT scans and looked for signs of stroke. They have now set up a corotid arterial ultrasound for next week to be sure there is not a blockage of some kind but it seems rather strange to me that it take this long to get it checked by ultrasound.. but mom chooses consistently to stick with going on base, however limiting that is..she had surgery connecting vessels from her leg to her corrotid arterys for the facial reconstruction surgeries and so I would think there would be more immediacy in her case. I am concerned about scar tissue. Blood work showed her thyroid levels are way off. She has thyroid disease so I guess this is the other area that may have been causing the issue. The other thing that worried me was she said she thinks she experienced this episode once before back in April. I am just praying that everything is ok. She has been doing so well and has been very excited about some home improvements she has been making lately. I worry she is not always upfront about her health issues because she does not want to worry or burdan us with all we have going on.. of course she is my mom and never a burdan.
So the other thing that happened was Sam's biopsy site tests came back positive for strep infection but it did respond in the lab to the antibiotics and it seems to also have done so for him as well. He has been doing pretty well overall. He did have a brady episode on Friday night but came right back up in heart rate so just a small bleep on the radar. We were blessed by my friend Jen who watched the girls while Jason and I took Sam with us for some dinner out.. a rare event. So thankful for good friends! My sister and mom were also a big help to me this week picking up prescriptions and making it possible for me to go to Isabella's literacy day. She was Heidi and wore a dress I had from Germany when I was a young girl. It swallowed her up but she was pretty cute.
We celebrated my niece's 1st birthday and she recently began walking so it was alot of fun watching her walking all over at the birthday. Her dad is deployed and I know it was a hard one for my sister but they are returning to Germany next week and then getting reunited with him in the weeks ahead. Watching her daughter makes me remember so much of those same milestones with the girls. Sam's start has been different than theirs and on a different schedule, but he is making progress and will leave those lasting memories of the big moments too. He had a big day today in speech therapy, working with the eating and drinking skills. We went back to bananas which I am finding is his absolute favorite. He is swallowing and doing more with drinking especially. The eating is tricky but if I get the spoon far enough back and press on his tongue and hold it in there while the food is dumped in and long enough for him to trigger the swallow, then he does not push the food back out. It feels like such a small thing to us because it comes so easily but for him it is real effort and he gets so tired afterwards. He is moving forward though and I feel like we will get him there in time. One step at a time.
The big mind and time drains right now are coordinating the medical paperwork, backgound stuff and researching things for him when I need to be devoting more time to normal stuff. I am trying to find out about a deemed waivor for Sam to receive secondary benefits as they have deemed him fully disabled but because we own our own home and we acutally have an income, we don't fit social security disability parameters. We don't need an income for Sam but we need to be sure he has access to the care he needs. In this country you are punished for being able to afford health insurance. With each child I forked over thousands for each delivery after insurance paid like $20k while the mom in the bed next to me paid nothing. Not that I am mad she is not paying anything but when you are paying $1600 per month in health insurance, you would think Sam would be assured the care he needs but no.. if he becomes seriously ill again, we won't necessarily have access to the nursing etc that medicaid would provide for other kids. If he needs a wheel chair, insurance will likely not pay for it as there is a list a mile long of what they don't cover..and these are the things I am just scared to death about. What if insurance costs go up even higher as they did last year for us by nearly double.. Just when you think you have done everything by the book..have everything financially under control, doing everything possible to make sound decisions, something happens and you just feel so broadsided.
I had planned to return to working after Sam's arrival since taking time off when my mom's surgeries and the girls had taken the lead. I just needed to help contribute as every month is different when you are self employed like Jason. It is such a catch 22 though now..because now we really getting hit hard by Sam's demanding medical needs but I can't leave him with anyone due to his health needs to even go back to work. I have to figure out a way to do all that a stay at home mom does naturally along with caring for Sam's unique needs, and find a way to help with financials.. seems like something has to give. I thought it was tough when I was working from home with 2 toddlers under foot but boy I am a bit between a rock and a hard place now.
I am just praying for the right avenue. I wake in the night thinking about what ifs and find myself coming back to the same answer..there is never enough..never a perfect solution to an unplanned situation, God wants us to let him help us figure it out. I know we can't do this alone.. We are soooo blessed I know and have always known that we have gotten to live relatively comfortably but boy..I never planned for the turn of events of having one baby boy.. one sweet, defenseless, baby boy. Never knew how much more complicated life could become. But he is a gift and I am so thankful to have a complicated life if it means I have his sweet face spitting his bananas back at me. :)
Prayers this week mainly for my friend Robin who is away with her Dad in Houston at MD Anderson fighting for his life. He is on a ventilator and in critical condition. He has fought many health problems for so long and my prayers are that he not feel pain and that he feel all the love around him. I am praying hard for Robin who is trying to be so strong, a true daddy's girl. I pray for her own health through this ordeal and that she and her family have God by their side during this hard time. I know her and her mother are very tired and emotionally drained. It is so hard to not be able to help your loved one. We have so many friends in painful situations and with struggling loved ones. Our prayers are with those families in situations we know too well.