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).
bald and had these blue eyes that made every
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 its 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.
For years we chased that seizure monster, and for years, the only answer we received was it was a seizure disorder. Not much of an answer.
One day, we went to see his new Doctor for a routine follow-up. On the way out of the room his doctor turned to us and said: Oh, did we talk about his LP results? (A year earlier, while in hospital for an episode of Status Epilepticus I talked them into a lumbar puncture) 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. I asked the Doctor what causes that and he said: A variety of things. But we know how to treat it. We thought we finally had a possible answer!
But what DOES cause low 5-MTHR? 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.
Several months after that finding, Aware of Angels Founder Season Atwater emailed me offering free exome testing. I thought we had our answers so I told her to let someone else have it. She emailed again: You need to do this. 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.
8 months later after two lost samples, we got a 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.
Diagnosed June 2015
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