Research | Community | Cure
When Glenn was born, he seemed perfect. Maybe a little awkward looking but what newborn isn't? I mean, if we are being realistic, newborns are kinda squishy-looking. They cute-up a lot later but at that moment...not so adorable. Glenn did cute-up, alot! By 4 weeks old he had doubled his birth weight, which was wonderful since he was 6lb 13oz at birth and I had barely gained much weight throughout the pregnancy. He was fat, round and
girl that met him want to hold him. He would smile frequently and he hit all of his milestones ahead of schedule. He was seemingly perfect. Beyond perfect even. For almost 3 years, all was well. Glenn, Bug as we call him, flourished but he did not speak. For most people that might be a red flag, but in his Daddy's family, some of them didn't speak until they were at least 4 years old, so we didn't worry. Daddy spoke for the first time when he was 4 years old and Grandpa Glenn was 5. No worries.
Then, on October 25th, 2005 he had a seizure. We visited the ER, they did all the tests and everything, EVERYTHING was perfect. So we went home and we waited to see if it would happen again. Each day that went by told us his seizure was a fluke, a one-off. For 4 months we thought we were free of the seizure beast. And then the beast reared it's ugly head again and we knew we needed to find out why, what was going on. We read that 70% of people with seizures never find out why. Would that be us? And he seized.
Every 4 weeks, he seized. I cried. Every 4 weeks I would hold my golden boy as he was wracked for almost 4 minutes with convulsions. When the seizure was over he would sleep for hours and awaken happy. After a year of this pattern, it changed, and he began to have absence seizures. By this time we had seen a Neurologist and had an EEG and it was within normal limits. Another year later and his sleep that had been so spotty now became a nightmare. He was barely sleeping and when he would sleep, he would seize. Always. He was seizing every night and there was nothing anyone would do about it.
When we moved to Utah, he began having 10 seizures a night. The third night he did this, I called around to EVERY Neurologist in the area until I found one that would see him the next day. Another night of holding him while he seized. I didn't sleep. When I took him in, the good Doctor ordered a new EEG and when she got the results, she prescribed Lamictal. When he began taking it, that first night, he had less seizures. I actually got 4 hours of sleep in a row! By the time he was on the target dose, he went seizure-free for 3 weeks. It was an answer to our prayers.
And then we realized: he wasn't smiling much. He wasn't shaking hands, or making eye contact and he would rarely play with his sister. We had missed how much he regressed while we were trying to stop the seizures. It was horrible. And then it was a nightmare.
One morning, Bug woke up in tears. He never cried so it was time to panic a little. Then I saw him try to walk and then it was time to panic a lot. He would try to take a step and his leg would collapse and he couldn't catch himself. It was Todd's Paralysis and I took him to the ER. They gave him Ativan and he slept. Then he seized. They gave him more Ativan and he awoke smiling. We thought he was out of seizure cycle and then he seized again. And again. They gave him more Ativan. I watched his heart rate drop and his breathing go shallow and I asked to speak with the Doctor ordering the Ativan. He was calling it in. He wasn't even NEAR the hospital. So, I demanded an EEG. They said: Look? He is sleeping, he can go home. Right on cue, he seized. I said: Want to revisit that? Get that Doctor in here NOW or get an EEG on him. As soon as the leads were on his head and the machine began to show brainwaves, the phone rang. Admit him, he is in Status. That was the FIRST time I heard that but not the last.
He went into Status (continual seizure or clusters of seizures that don't stop on their own) 3 more times in the next 14 months. The third time, I asked a new doctor for a lumbar puncture. I had been asking it of his regular neurologist for 3 years with the same answer: It won't tell us anything we don't already know. This time, I was flippantly asking it and this time, the doctors response changed our lives: He hasn't had one? I perked up. No, he hasn't. And my heart raced, would he finally get this test? The one that I was so sure would give us an insight into why we was seizing and regressing? The doctor said: We can arrange that. And the next day, the wheeled comatose boy into the treatment room and stuck a needle into his spine. Two days later he was ready to go home and they told us his lumbar puncture was normal. I was stunned. Normal? Really?
A year went by, he was in Status one more time, and that one almost killed him. Literally. He was put on the Ketogenic diet, which made his seizures worse and he was also on heavy doses of clonazepam and phenobarbital. He was a zombie, he was not my little boy, he was not the little boy I had known, he was a little boy who was dying.
We went to see his new Doctor and give him an update and check his medication levels and his kidneys and liver function. Long-term use of Antiepileptic Drugs can cause organ failure. On the way out of the room his doctor turned to us and said: Oh, did we talk about his LP results? I said: We were told they were normal. He said: Who told you that? We found something and it could explain everything. I'll be right back...and he left the room.
Daddy and I looked at each other. Did we just hear that? What did he say? What? I was shaking when he walked back in and said: He has low levels of 5-MTHF in his brain. It's a major neurotransmitter. I said: Folate? Doctor was surprised. Yes, how do you know that? I told him about us all having a MTHFR mutation and the research we had done. He smiled and said: Yes, that could be related and we can treat it with a supplement. So, he was prescribed Leucovorin. It's an analog folate that crosses the blood-brain barrier rapidly. By the end of the first week, he was sleeping 6 hours in a row. By the end of the 3rd week, he was sleeping 10 hours. He started making some eye contact and we began to wean his pheno. I began to research. I went through his medical records and found the lumbar puncture test results. The middle page was missing. But what WAS there was a recommendation for treatment on the last page. They LOST his results. His results that saved his life! He has NOT been in Status since the Leucovorin.
My research led me to another finding: Bug has an autoantibody to folate. Whatever folate he takes in, or produces, his immune system attacks. He has the highest levels of blocking and binding antibodies his specialist has ever seen. And he isn't being treated for it yet. They coded the treatment incorrectly and our insurance denied it. When we offered to pay out of pocket, they told us no, it was too expensive. I assured them we could afford it and they still refused.
Several months later, Aware of Angels Founder Season Atwater emailed me offering free exome testing. I thought we had out answers so I told her to let someone else have it. She emailed again: You need to do this. I told Daddy and he asked me why I felt like Bug didn't deserve it? It was a hit between the eyes. He DID deserve it. So, I told her to send me the kit. We cheek swabbed all of us, Daddy, Myself, Bug, two sister and his little brother. And we awaited the results.
A few months later, we were contacted by Dr. Ghoulson Lyon who wanted to meet us. He came our house, met with us for a few hours, took some pictures, wrote some notes and asked for more samples. Well, why not? So we all spit into a tube and off it went.
Another month later and we were contacted by the genetics company asking us if we had sent our blood in. What? I told them we had given them cheek and saliva samples and did they have those. No, they responded. We were lost again.
A week later and they had found them but still wanted blood. They sent a very nice vampire to our house, she drew blood from everyone and again, we waited.
Several emails followed, setting up appointments to go over the results, cancelling the appointment because they didn't actually have the results. Telling us we didn't fill out the right papers only to find the papers somewhere else. It felt as if it was a waste of our time. We were losing hope. Then we got an email arranging a phone call.
We had taken the kids to play at a fun center when the call came in. Daddy and I sat in the car on speaker phone while I feverishly took notes. It started:
What we found, we have seen before but not like this.....
Bug has KBG Syndrome. BUT he has a unique variant. Dr. Ward told us to use social media to find other families. He explained that even though the syndrome was identified in 1975, there was no organization to support the families. Daddy looked at me shook his head yes, saying: Of course you will establish one.
We walked back inside and both just sat and stared at our children. At Bug especially. Unique in the entire world, Dr. Ward said. No other human being, animal or vegetable has this type of mutation in this gene, he said. And we watched Bug sitting there, spinning his toy and we wondered: What does his new future hold? These diagnosis that were lost, now that they are found, what will that mean to him? He looked over at me and smiled and I smiled back knowing that his life will be better, no matter what, he is now found.
bald and had these blue eyes that made every
Everyone has a story to tell, here's some of ours. Whether diagnosed early or diagnosed decades later, each KBG story is as unique as their fingerprints (yes, we do have fingerprints).
Diagnosed June 2015