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Our Pyridoxine Dependency Story - Epilepsy and Vitamin B6

Hi Everyone. Thanks so very much, as always for checking in on us. Things have been pretty crazy around here! Daniel and Jonah are now 7 years old and Samuel just celebrated birthday #3!!! If this is your first visit to our site, please read on, our story follows. If you are a return visitor, I'm sure you've already read our story, but please check out the boys' individual pages to see how they are progressing. New "Stuff" going on with us: We are "officially" that "weird, Christian, homeschooling family" now! We are going into the twins' second grade year! The boys are doing so well all around. Jonah & Sam were just diagnosed with a bleeding disorder...after all these years without answers in regards to Jonah's frequent and severe bloody noses and easy bruising. We discovered this quite by accident as we had to get blood drawn for Sam before his ear tubes were placed (In May...where does the time go?!?!) And it was found that he had a low Factor VIII as well (something that Jonah has had in the past) So further testing (for both of them) showed von Willebrand Disease. Still getting used to the idea, and the frustration this diagnosis leaves me with is unbearable at times. But God is a big God and there is a plan. I have held strong to that faith, I don't know what the answers are right now, but one day I will know...some days I have to admit to wondering what God was thinking...but most of the time, we just ride the tide and go with the flow. So, I am grateful that Jonah is doing as well as he is, even though it can be very frustrating watching him try to keep up, I have to remember, as always, that our situation could be so much more difficult than what it is. Check out new photos on our photo page, check out my bartering page if you need something & would like to trade. Slide show also added in the links section below. Our story is below. Check out some of our other pages as well. Sign our guestbook to let us know you were here! Thanks for stopping by!

Our journey into the world of epilepsy began when my twin boys were just 4 weeks old. The twins were 6 weeks early and Jonah was still in the special care nursery. He had already begun having brain damaging seizures.

The first seizure I witnessed was when the boys were 4 weeks old. Daniel was lying next to me, napping on the sofa. I noticed that he had begun to have jerks of his arms and legs. My first reaction was "Oh my God, he's having a seizure!". But after I checked his temperature (seizures sometimes happen in young children with high fevers-and his temp was normal) I quickly dismissed his jerking as "nothing". He seemed okay after this episode, in fact, he went right to sleep. The next day, when he had the same type of episode, I made a mental note to mention it to the pediatrician when we saw him. These episodes continued to happen daily, and not wanting to be labeled as an "hysterical new mother", I just waited til we were to see the doctor. (I have long since dropped any and all concerns about what anyone in the medical profession thinks of me) The episodes would last for up to 20 minutes or more, rythmic arm jerks and leg jerks, in clusters for what seemed like an eternity every day.

Eventually, the pediatrician (actually, our family doctor, which I will NEVER use again for the children) gave us a referral to a neurologist. Daniel was put on several standard AEDs (anti epileptic drugs) with no control of these episodes. Then, the testing began. First, the EEG, a test that records brain waves. Abnormal. I knew that something was not right, but MY baby could not be having seizures! I had just begun to recuperate from a horrific pregnancy, my twin sons were too early, one was still in the hospital, I was still recovering from and emergency c-section...that was enough...wasn't it?

After the EEG came back abnormal, my tiny, tiny baby went through more tests than I can even recall. Blood, urine and spinal fluid were all tested. Many things came back abnormal, but the pattern of abnormal tests didn't indicate what the problem was. The medications still were not working. Then the neurologist (who is my hero...really and truly) suggested we try to give Daniel Vitamin B6. Needless to say, I was a bit peeved, how dare he suggest I give my seizing baby a vitamin?!?! Well, I did it. Within 3 days, Daniel was seizure free. We upped the dose about a week later. He weighed about 5 pounds at the time and was taking 100 mg of Vitamin B6 a day, with NO MORE SEIZURES!!! He would continue to have occasional seizures, sometimes severe tonic-clonic (grand mal) seizures until he was about 2.

Daniel is now 6 years old and is developing pretty much typically. He has some slight fine motor issues, but is working through that well. His EEG in December of 2005 was NORMAL!!! He has had several seizures during times he's had fevers, but typically, he has no problems. Daniel is the sweetest little guy ever. He LOVES cuddling...loves snuggling and watching movies... What a kid!!!

While all of this was going on with Daniel, Jonah was still in the nursery at the hospital. He had been on a ventilator, CPAP, and we just could not get that kid weaned from the oxygen. The whole time, unbeknownst to me at the time, Jonah was having the same kind of seizures that Daniel had been having. The nurses, doctors, no one told us that he was having them. Jonah's episodes only happened once every three to five days, so we never witnessed one while we were at the hospital with him. Jonah came home when he was 8 weeks and one day old!

I took the boys over to my parents' house the next day. (Jonah had been discharged the night before) Just as we were getting ready to leave, my mom told me to look at Jonah. Sure enough, he was twitching away. It broke my heart. At that minute, I knew that both of my babies had this awful thing. Jonah was immediately started on B6, with good results, but not as dramatic as we had seen with Daniel. You see, Jonah had been having seizures for up to 8 weeks, and we didn't know it. So he wasn't treated. Jonah, to this day, has many problems. He has fully caught up to where he should be, cognitively, physically. He had a lot of delays as an infant. He didn't sit up on his own until after 12 months. But, he was walking at exactly 15 months, one day before Daniel started walking. He began talking at 24 months. He never babbled, cooed or made any noises outside of laughing and crying until 24 months. But he is now speaking in 6-8 word sentences. Jonah has sensory issues. He doesn't properly register pain. He will eat HOT foods and not know it. He will eat spicy hot foods and laughter is his reaction...and I mean HOT...he once ate a full bowl of hot salsa. (we were out to eat with a friend and I was gabbing and noticed him eating, but never in a million years considered he was eating that!) He had burns inside of his mouth from this one! Jonah has significant difficulties in learning. Routine is very important for Jonah, he doesn't like his general routine broken. But, all in all, Jonah is a HAPPY, sweet little boy, and he never ceases to amaze everyone. Jonah is now 6 and is on 4300 mg of p-5-p. He also gets B6 injections as needed. Jonah is now also on folinic acid (medication name: Leucovorin) and, now that he is able to swallow pills, is doing quite well on it. We were doing injections of Leucovorin for a while because it did seem to help but he was gagging on the pills, so...glad the daily shots are over! Jonah's EEG from December 2005 was not normal (which is normal for Jonah! Ha...) We've also added the medication Keppra to Jonah's meds. Other than the behavior side effects (ooh, he's a feisty, crabby one!), his seizures have been MUCH better controlled. Its still not uncommon for him to have a few *somethings* on any given day (staring spells, falls, either of which could be seizures) but in general, he is doing much better. Jonah is a sweet little boy. He is such a little trouble maker. He is such a good big brother to Sam! I think they "get" each other. Jonah is a funny, smart little guy and he has taken a special interest in jigsaw puzzles. He sits down to do a 100 piece puzzle and is done in just a few minutes. He sat down to do a 500 piece puzzle a couple weeks back. I was just beaming with pride as he was sitting there putting together that grown-up puzzle and no sooner did the words "He is SO SMART!" come out of my mouth, did the kid get up, spin in circles until he got so dizzy he was gagging and then he went back to doing his puzzle. Lesson learned...Don't get too comfortable. God has His very own special way of knocking you back to where you need to be!

Baby Samuel was born on June 21st, 2004! It was so exciting to have a new baby in the house. Sam, had his first seizure about an hour after we got home from the hospital, on day 3 of his life. Sam has been diagnosed with the same disorder as the twins, with an odd twist (an odd twist to a rare disorder...leave it to my kid!)He is dependent of Vitamin B6 to keep him seizure free, but his body is unable to use vitamin B6 properly, so he takes a Vitamin B6 metabolite called Pyridoxal-5-Phosphate. The nazi geneticist theorizes that Sam has a pyridoxal kinase deficiency. Sam also takes Keppra for his seizure control. Sam has been on Leucovorin since he was a few weeks old, the effect of this medication has been remarkable for him. His EEG is not yet normal, but still much better than it was. One day at a time!

Sam...oh boy oh boy!!! Sam is 2 years old and is the funniest, sweetest, craziest little kid you could imagine! This baby is more work than the twins were PUT TOGETHER!!! Sam, as you will see in his photos, has this crazy, curly blonde hair and has the most naughty laugh and smile ever! Sam is a bit different from the twins, he looks different (different is OK, right?), he definitely has "I'm the Baby Syndrome". ! Sam was just recently diagnosed as being extremely far sighted. It came as quite a shock to us how bad his vision is and our most recent trial with him is trying to keep glasses on him! Not an easy thing. I don't know WHERE this kid got that stubborn streak! ;) Sam is probably going to need eye surgery, which will be coming up shortly. Sam's December 2005 EEG came back the same as his last one. Not normal, but it did not show any seizure activity either. So, that's Sam's update, check his individual page for current updates on Sam as well as photos!
I am so very lucky to have these three little boys in my life. I have learned so much in the time since I have had them. I have learned to take it easy. They are going to be exactly who they are meant to be, regardless of how much I worry. I could get hit by a bus tomorrow, but I can't live my life with that fear. So, I don't. I have, with the birth of these boys, been given so many opportunities to meet so many people. I now know that God doesn't give me anything that HE can't handle. And, I am glad that I have the faith to remember that. I just think about what a phenomenal journey this has been and how blessed I am to be able to go through it. Our life truly is a journey, not a destination. Our paths are unknown to us, but we keep moving forward with the knowledge that some days may be harder than others, but the journey is worth it.

Vitamin B6 can SAVE LIVES! Pyridoxine Dependency is a genetic disorder resulting in seizures and developmental issues. Do you know a child who has seizures? Has a trial of Vitamin B6 been done?!? ASK YOUR DOCTOR!

Please, take just a moment to sign our guest book & visit our other pages (links below)!!

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More of Our Web Pages & Favorite Places

MY BLOG...Mama Musings *NEW*
PD weblist at Yahoogroups- search for B6children
Daniel's Home on The Web
Jonah's Home on The Web
Our Family
Jon's Stuff
Jen's Corner
PD, Epilepsy & Special Needs Links *NEW*
Jen's Hyperemesis Gravidarum & Pregnancy Complications Page
Jonah's Smile Quilt
Sam's Page
Our Family Photos NEW PHOTOS ADDED
My Barter Page...UPDATED!!!