About Bug

>> Sunday, June 7, 2009

I was 32 when Glenn told me I was pregnant. Of course, after 7 years of trying to conceive with no reason we had not, I didn't believe him. Sure, I felt 'off' but it was just allergies and a bladder infection. Oh, how it wasn't. When the test came up positive immediately, I was numb. Shocked, stunned and scared. How had this happened? And then, I didn't care. I was finally pregnant and all would be well.

I was stunningly sick for the first 20 weeks. Every other day was a puke-fest, I had a tough time enjoying being pregnant. In fact, I hated it. I couldn't eat, I was dizzy all the time, I was exhausted and really tired of our bathrooms. At 20 weeks, we had a scan and saw we would be having a boy and all things looked perfect. My misery had value.

The last 20 weeks were considerably easier than the first. He was very active, and I mean VERY. He woke me up almost every morning at 6:20AM for the last 6 weeks. This part, I did enjoy.

Our week 38 checkup showed that we were almost there. Almost to the point of delivery, or so we all thought.

My due date arrived, I went to the Doctor. We were told that if I went the weekend it would be a shock but today did not look like the day. We went home and began hanging Christmas lights. We were about half done when I had to go sit down, started getting very tired. I went in the house, sat on the floor and did some coding on my computer.

When I stood up, my water broke. Well now, right on time! I liked this boy already! I got Glenn and we headed to the hospital.

I had gained 23 pounds and at just shy of 5'10" I didn't really look like I was ready to deliver. But boy, was I. When they checked me I was at 4cm and he was at -1 station. He had moved a lot in the 9 hours since my appointment! I was hooked to the machines and they confirmed my contractions where in fact productive and that placed me in active labor.

However, I stalled at 5. For 4 hours. And I had continued to lose amniotic fluid so we all decided that Pitocin would be best. At 2:20 am I got the Pit drip. At 3:30 I asked for pain medication and received Nubain. This was worthless, it just made me dizzy. At 4:30 I was told I was at 7cm and could have a Epidural if I wanted and I wanted. At 4:45 I got my epidural and it was heavenly. At 5:00am my blood pressure dropped and the nurse rolled me on my side and called the Doctor. They removed the Epidural and gave me something to counteract it.

By 6:00am the drama was gone and I was ready to push. So I did. And I pushed some more. I pushed for an hour before my Doctor walked in. She took one look at me, made a small snip while I pushed and Glenn David Maughan was born. He had great lungs. He let the world know of his immense displeasure and I was stunned. She placed him on my chest and I took one look at him and said: Oh, there's my little Bug. And a nickname was born next to him. He weighed 6lb 13oz. I was scared that he was so small but I was barely 7 pounds and Glenn was under so he was right in the middle.

More importantly, Bug was perfect. Completely bald except for a little patch of strawberry blond hair on the back of his head. He was strong and very happy, we also called him Smiley. He ate ravenously and we had to supplement from day 3 of his life or he wouldn't sleep longer than 45 minutes. The sleep deprivation was intense.

At 4 weeks, he had more than doubled his birth weight and we both got the flu with a 104 fever. Tylenol did not work well for him and we got the thumbs up for Ibuprofen which broke the fever nicely. It made my heart ache to hear him so congested and I hardly slept for a week, but then again, neither did he.

He did that cute baby thing while he ate, sticking his fingers in my mouth and smiling. It made me feel complete.

At 4 months old he began sleeping for 4 hours at a time and started to refuse breast milk. Not just breast feeding but any breast milk. We had no real choice, I cried and he started baby food. He adapted to that like a champ! He liked to sit in his swing and stare out the window until he fell asleep. When he wasn't in his swing, he was on the couch, propped between two pillows, watching the people in the room.

At 6 months he was sitting on his own and babbling. Almost every night I would hold him in my arms and he would smile at me. I would say: Stop smiling and go to sleep and he would giggle. We were sure he was saying Hi to people. When someone would walk into the room, he would look at them and the person would get a smile and a Hiya sound. More than one person commented on it.

He was a Daddy's boy. When he was upset, which was not often, only Daddy could comfort him. He loved to be tickled and cuddled. He would wake up with a smile on his face everyday, even when he was sick. I have never met such an agreeable infant.

At 9 months he could feed himself with a spoon and a fork and laughed about it. At 11 months, he decided to forgo crawling for walking and has been running ever since.

By 18 months he still hadn't talked but he would shake hands, follow simple directions and point to what he wanted. He loved to dance and listen to music. He would sit on Uncle Jason's lap for HOURS and watch him play video games wearing headphones listening to music. He had no stranger danger and would walk up to anyone and give them a hug. He loved to watch Rolie Polie Olie and would dance to the theme music UNTIL he found SpongeBob. When SpongeBob came on he would sing the Ooooo part of the opening song. It was hilarious! He would stop in his tracks, throw his big golden-haired head back and say: Ooooooo at the top of his lungs. And when the Oooo was over, he would dance the rest of the song, then climb up in his High Chair and watch until a commercial. At that point, he would come over to give me a hug and a kiss until SpongeBob started again.

Since Daddy didn't talk until he was 4 and his Paternal Grandfather was 5, we weren't too concerned about his lack of speech. At first. Until...

Two months shy of 3 years old he had his first and second seizures. I always thought his Grand Mal (New term is Tonic Clonic) seizure was the first. It started with a horrified look on his face. He was looking over my shoulder and began to scream and go rigid, the look on his face was sheer terror, I thought he had seen a ghost. No kidding, I turned quickly expecting to see something behind me but when I saw nothing and turned back, I realized he wasn't scared, he was having a seizure.

As terrified as I was, I knew what to do. I placed him on his side and knelt close to him, reassuring him that he was gonna be OK and I hung up the phone (I was talking to Glenn who was on his way home when it happened) and called 911. He was seizing for a little over 3 minutes and by the time they had dispatched the paramedics, he was coming out of it. He curled up and slept. We readied him and headed to the hospital. The paramedics moved in slow motion. I was trying to hurry them, thinking he could be dying, he could have something REALLY wrong with him and they took their time. I was anxious, I had just experienced the worst moment of my life. Watching him have that seizure that shook his whole body, I couldn't help but think: I am watching my son die and there is nothing I may be able to do about it if there is something wrong.

I rode with him in the ambulance, constantly turning around to check on him. He was so small on that big gurney. So small. The Paramedic sitting by him taking his vitals, fell in love with him. Everyone did. He had hair that was spun gold, he looked like sunshine. The Paramedic did what everyone did: He pet him. And he held his hand while he slept.

When we got to the ER, Glenn was already there. The same hospital he was born at. They tested his Blood Glucose and did a CAT scan. His tests were 'unremarkable'.

I remember sitting next to Glenn while the staff was with Bug. I leaned on him and told him this was all wrong. It felt all wrong. We weren't supposed to be here when he was 3. The first time we were supposed to come to the ER with him was when he was 8 and had fallen off his bike, not 3, not because of a seizure. It was all wrong, I didn't know how wrong at the time but I knew my world had changed.

We found a different pediatrician and he looked over the ER reports from the previous day and he seemed unconcerned. He told us: I give everyone ONE. IF he has a second we will track down the cause. I didn't think about it at the time, but the Grand Mal WAS his second.

We had been taking a shower together that day. I had his baby sister in my arms and he was next to me. I was rinsing her when I heard him fall. I turned and saw him on his back a little rigid and staring. I placed Taylor on the carpet outside the tub and grabbed Bug's face and started talking to him. Bug? I queried, Bug are you OK? He gave me no response, and I thought he had slipped and was dazed. I held his hands and listened to his chest, his heart was beating quickly and I surmised he had slipped, hit his head and was maybe a little shockey. He came out of it and smiled at me, then began to get up. I picked him up and carried him into the bedroom. I went back to get the baby and when I returned he was asleep. THIS scared me. I put Tay in her crib and called Glenn while I fetched a flashlight. Still thinking he had hit his head. I checked his eyes, there were equal and responsive and his position in the bathtub made me think that he was just tired and laid down too quickly.

He slept for 3 hours and I brushed it off.

Less than an hour after he woke from his nap, he had the T/C and our lives turned upside down. He went 4 more months without another and we thought it was a fluke. But then he had the second one and then 4 weeks later a 3rd. Every four weeks.

He VERY slowly, started slipping into himself. He smiled less, he hated to be tickled, he wasn't dancing anymore.

We made an appointment at Primary Children's in Salt Lake City. California has NO Pediatric Neurologists that take insurance. Yeah, California, the touchy feely state doesn't care that you have to pay your Child's Neuro and then bill the Insurance Company yourself. So, not only were we gonna have to go through all the testing and the months of regulating drugs but then I would have to argue with the Insurance Company. So we called Primary Childrens, met with Dr. Susan Benedict and began our journey of discovery.

We thought he might have BRE (Benign Rolandic Epilepsy) but his EEG did not show it. In fact, his EEG, which was done almost 10 months after the first seizure, was not abnormal. His brainwaves where within adolescent limits although a little excited. He IS ambidextrous and we thought maybe he was just having a tough time building those amazing amounts of neural pathways. We talked about the possibility of Landau Kleffner Syndrome.

And we waited. Although he was having T/C seizures, most AED's (Anti Epilepsy Drugs) will hinder development in such a small child and we all agreed to wait to try any and see how the seizures developed.

A few months later, it appeared we had made the right decision. He moved to Absence seizures. These are not as intense and last a lot less time. A few months after that, he had Drop Seizures intermixed with the Absence's. But still, the frequency was every few weeks.

November 24Th, 2007 Bug began having T/C's every night. We got in to his Doctor in December who referred him to UCLA. Even with the referral, the earliest we could get in was the end of April. 5 months! Over a hundred seizures! I was pissed but we went. It was a complete waste of time.

The first Doc he saw at UCLA took his medical history. She asked: Has any medical professional confirmed these? THIS will rip your heart right out. I know, she needed to ask, but the very thought that we would be manufacturing our despair for our son was shocking. Even more shocking was the Doctor we were actually scheduled to meet. He sat with Bug for ten minutes, refused to let him hug him, shoved him away every time he came near and declared: It's JUST Autism. But we WILL test him for genetic markers. Things such as Fragile X, and the Trisomy.

This got my back up and I actually flinched. Not at the thought of Autism but at a ten minute diagnosis with no testing. The Doctor looked at me and I raised an eyebrow. I said: Wait a minute. I don't want us to be so certain of this label that we neglect looking at anything else. I want to make sure we don't put him in a place where we forget to look around.

The Doctor ignored me, turned to Glenn and said: I am the preeminent Doctor in the country for Seizure Disorders and I will stop the seizures but his obvious behavioral issues need to be referred to the Behavioral Department. Glenn saw me open my mouth and spoke for me: He is not always like this, what IF whatever is the catalyst for the seizures is also responsible for his hyperactivity and lack of focus?

Again, Dr. Fullofhimself reminded us that HE is the leading...yada yada yada and HE will yada yada. Bug wasn't a person to this man, he was a diagnosis and another case to add to his resume. WE weren't logical, reasonable, people we were stupid, emotional parents who had to have a firm hand. He did give us a prescription for Depakote and Diastat(for when he clusters or has a T/C over 4 minutes) and he said the ONLY redeeming thing he had said: There is no reason we shouldn't try to get him some relief immediately.

We got out in the car and both tried to be upbeat. We said things like: This Doctor must be good, he seems to know what he is talking about and he has a lot of experience. We lied to each other to make us feel better.

When we got home and actually talked about it, we realized the man was an ego maniac and we wanted nothing to do with him. He didn't even order an EEG! He told us he wanted an MRI and blood work. We got the blood work before we left and were told that it would take upwards of 2 months for the MRI. The statement was: If you haven't heard from us in 2 weeks to schedule it...give us a call. I asked: Why can't we schedule it now and they ignored me. K. Done with UCLA.

At that point, we knew we might be moving to Utah and so we decided to wait until we knew for sure. UCLA never called. I did call them, so that I could at least get some testing done and they told me they had to call me back, which they never did. Wow.

He was on the Depakote for 2 months before we had to stop it. He was too hyper. He was playing with his feces, climbing in the fish tank, smacking the walls, eating weird things ALL the time, and he never sat down, except to sleep, which was fitful and gave him no relief from seizures. 60 days was 58 days too long. When we called the Doctor after the first 30 days, we couldn't even leave a message. So we had to call back and we never talked to anyone, or were able to leave a message.

When we found out we would be back in Utah we both almost cried. We cried because this is what our boy needs. This was so right. I made an appointment as soon as Glenn's insurance kicked in. It was 4 weeks away.

We were there for 3 weeks when Bug started having MULTIPLES a night. The third night he had 6, I called around to find a Doc that could get him in immediately. I look for the personal response when I talk to a Doctor's staff. In a case like this, I look for: Can you hold while I ask the Doctor if he/she is available. And I found it in the third Doctors office. Dr. Pamela Vincent in Provo doesn't usually take pediatric cases but she told her receptionist to get us in the next afternoon.

When we met Dr. Vincent I immediately wanted to hug her because she picked Bug up and held him on her lap. She ordered an EEG and told us to be strong until she can see his brainwaves so she knows what medication to give him. I almost cried, I can't wait Pamela, I said. I hear death creep at night when Bug screams before his seizures, I rush to him, and comfort him and pray his heart slows back down and that he takes another breath. I feel helpless and he hasn't smiled, really smiled in over a year. Please, I begged we can't wait months. She looked at me and smiled. Annette, we will schedule it before you leave and if they tell me it will be longer than a week I will be surprised. I held my breath. A week? Really? Yep.

A week later he had his EEG and a week after that she prescribed Lamictal. And the Lamictal gave us Bug back. That happy boy, that playful boy, that smiling boy. He had some relief from his seizures but recently is back to multiples. Dr. Vincent referred him to Dr. Van Orman at Primary Children's Hospital and she told us that his EEG pattern showed 4 possibilities: West's Syndrome, Myoclonic Juvenile Seizure Disorder, BRE and MAYBE Landau Kleffner.

We got in to Dr. Van Orman a few weeks later and more testing began. He had an MRI within 2 weeks, he had more blood tests and we scheduled a 24 hour EEG.

The last 6 months have been unreal, eventful and educational. We have come a long way and are finally getting someplace. Most importantly, we have Bug back. He may still not talk, and is not potty trained but he laughs spontaneously again, and he is investigating the world again, something we thought was gone forever.

Update:
Bug took several bad turns and almost didn't make it a few times. He was in Status Epilepticus and before we knew it, he was on so many heavy benzo's to stop his seizures, we completely lost him again. He stopped smiling, eating, walking straight, it was a nightmare. And then...

Bug's FIRST diagnosis came after his second Status and a lumbar puncture, the test we begged 4 years to get. It took another year for us to get the results: Cerebral Folate Deficiency. His brain wasn't getting enough 5-MTHF, a major neurotransmitter.  After doing more research, we found and had him tested for Folate Reductase Autoantibody. He was VERY positive for both blocking and binding autoantibodies. Bug doesn't like folate, he doesn't produce it well and when he gets too much of it, the autoantibody goes wild. His treatment has helped him greatly, but as he gets older it has been getting tougher to treat.

Now he is on an experimental drug: Epidiolex and doing much better. He is engaging more, making eye contact, no longer toe walks, and is happier overall. We are still working on an official genetic diagnosis, we know he has something going on, but no one has found it. And with his brother's cord blood banked...we have some next-level options. So step up Geneticists...impress me!

5 comments:

Jenni Elyse July 2, 2009 at 9:17 PM  

Wow! I had no idea how hard this has been for you guys. I knew he was having seizures and that he wasn't being diagnosed, but I didn't know any of the falderal you went through. I'm so glad you're starting to see results and ways to help Bug.

Nett July 6, 2009 at 2:37 PM  

Thanks Jen. It was heartbreaking for a long time while we were in CA, but Utah has given us so much hope and help. I thank heaven every day that we were given the opportunity to return home for him.

thepiersonfamily July 29, 2009 at 7:49 PM  

I didn't know you were doing this blog. i'm glad i found it. I don't have the time right now to read everything, but you know I WILL. I think about you so often. . . .

Holly April 17, 2010 at 9:42 PM  

Narcissist Doctors that think they know it all sure do make a LOT of people miserable. *sigh*
They really put you & Glenn through the ringer in CA. HUH? Well, they're not perfect here, but I DO LOVE Primary Children's. That's where Matthew had heart surgery at 18 mos. There were times I was frustrated and didn't understand things, but thank HEAVEN we weren't at UCLA!! You are a STRONG WOMAN!! (((HUGS)))

Nett June 15, 2010 at 9:57 AM  

Thanks Holly, You know at the time it is happening you just keep your head about you and work to find the answers, it's only later that you can stand back and say: Hey! He WAS an Ass and I handled that well. :) Thank you for all of your support, it means the world to me!

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