Howdy Everyone!
Sam's birth info and Epilepsy story (the original text that was on this page) is below.
Sam is growing like a weed. He is meeting physical milestones (HURRAY!). His speech is significantly delayed. Sam started walking at 16 months old. It is speculated that he may have been a bit delayed in walking because we discovered in December 2005 that Sam's eye sight is very poor, so he may have been getting completely used to his surroundings before taking off! Sam is now 18 months old and is a whopping 30 pounds! He is relatively healthy despite his seizures, which do continue. He's had a few ear infections, most recently, a ruptured ear drum which scared me just a *little*, I went to get him out of bed and he was lying in a *bit* of blood! NEVER a dull moment around here!
Enjoy the updated photos of Sam...he's quite the cutie! And, as always, feel free to email me at any time with regards to the boys or questions or comments! Thanks! And now on to Sam's birth info and the beginning of his Epilepsy journey.
Thank for visiting Sam's page. Sam was born on June 21, 2004...after another very long pregnacy (see my hyperemesis & pregnancy page). Sam was born at 12:20 P.M. weighed 6 pounds, 15 ounces and was 20" long. Sam & I came home from the hospital on his 3rd day of life. About an hour after we got home, Sam had his first seizure. I wasn't quite ready for that! So, before we even had a chance to settle in at home, we had Sam's first hospital visit. Of course, with a diagnosis like our boys', we can't take them to the local community hospital...so we had a long car ride to get to the children's hospital for his first hospital admission. As expected (we'd been through it all before!), Sam's EEG was abnormal. We started him on Pyridoxine (Vitamin B6) but he continued to have seizures. An injection of Vitamin B6 during failed to stop the seizure. The only thing we could think was that something different was going on. The geneticist (a "lovely" man who I will call Dr. Paul Wong, just because that's his name...I don't recommend him at all, he is a nazi...He literally told me my kids are defective and to terminate any future pregnancies) who we saw only because he's the metabolic geneticist who was available, theorized that Sam has a pyridoxal kinase deficiency...so his little body needs Pyridoxine to prevent seizures, but his body can't break down B6 into a form that his body can use. So, we introduced a metabolite of B6 called Pyridoxal-5-Phosphate (P-5-P or PLP), but Sam continued to have seizures. We went home and a couple weeks later, after a full night of seizures and screaming (Sam, not me), Sam was re-admitted. This time, even more tests were done, another EEG, MRI, another spinal tap, more blood tests...We added Phenobarb to his P-5-P, went home with an EEG that was still abnormal.
A short time after this hospitalization, the boys and I went to see my husband, who was working out of state. We were there for 3 weeks. In the middle of our visit, the boys' neurologist called. Sam was still seizing a lot, he had had his first tonic-clonic (gran mal) seizure while we were gone. The neurologist had test results from the spinal fluid that had been sent to Baylor University in Texas. This is the only place in the country that does testing for a specific group of illnesses called pediatric neurotransmitter diseases. Sam did not test positive for any of the small group of disorders, but did have a neurotransmitter problem, for which we do not have a name, but it does have a treatment! We began Sam on Leucovorin, a medication containing folinic acid and also upped Sam's phenobarb, as he is growing like a weed. The next EEG was remarkably improved, still not normal, but it showed a great improvement! If the next EEG (at the end of November) is even more improved (could we hope for normal?) we are going to talk about weaning Sam off the phenobarb to see how he does.
Once again, we have been blessed with a miracle. I don't know what God's plan is for my family. Its been a crazy journey, lots of twists and turns and unexpected lows...but the highs have been amazing, and when we are in the "up" part of our roller coaster ride, the views are spectacular.
Sam's Current Diagnoses
Visit Our Other Pages & Other Favorite Sites
Our home page (our Pyridoxine Dependency Story)
Daniel's Page
Jonah's Page
PD, Epilepsy & Special Needs Resources & Links
Jen's Hyperemesis & Pregnancy Page
