I started to feel that Henry was not developing normally when he was about six months old. Momma instinct, if you will. It was an overall feeling that he was somehow "different" than my friends' kids, though I couldn't put my finger on how exactly. He smiled, coo'd, and rolled over at the right time, but when the time came to sit up he was WOBBLY! Also, when I had him on my hip he felt like he was just slumped over instead of holding himself up. At 12 months our pediatrician referred us to neurology at MUSC in Charleston, SC. Henry was missing milestones. It took about three years and a lot of heartache before he received the diagnosis of KCNB1 from his geneticist. About six months later, at the age of 5, he started having seizures. These seizures are still a bit of a mystery to us. After an initial honeymoon period on medication (Keppra then Depakene) they started up again and have increased with alarming frequency. Increasing the medication doesn't presently seem to be helping. But we are just at the beginning of that leg of our journey.
Henry is verbal, mobile, and loves to run and jump. He receives PT, OT, and ST. His speech is considered to be severely behind the curve. However, he talks in stunted sentences like "Mamma, Henry golf cart ride! Me, you!" which enables us to hear him loud and clear when he wants something. If you ask him to point to the black car he will do it. But he can't always tell you what color the car (or flower or whatever) is. He understands almost everything we say and ask of him. He just can't spit it back in the same way. He also is very repetitive in his speech. It almost feels like he enjoys or maybe is practicing saying the same phrases over and over. I hope to learn more about this.
Henry is affectionate. He loves his new baby brother, Robert. He loves his parents and grandparents and cousins. He gets along well with others and is quite charming. Henry is also willful and stubborn. Not a natural pleaser, but has a very pleasing way about him - if that makes sense.
He is in a special education program at his school and has improved quite a bit. He has never regressed to date. Slow progress but he pushes forward. Sometimes there is a big jump-his language was like that. ADHD is part of our picture though we haven't started medicating him for it at this juncture.
Henry's official diagnosis is: genetic test results which revealed a pathogenic variant in the KCNB1 gene (mosaic- 13.9% of sequencing reads). Because the result was mosaic, the change is most likely de novo. Most mosaic mutations are de novo, occurring after conception. As a result, recurrence risk for the parents to have another affected child is expected to be low or comparable to that of the general population. Fully predicting how mild or severe Henry's condition will be is not entirely possible given that 1) KCNB1 related disorders are highly variable 2) There is little information available in the literature about this condition in general given its rarity and 3) Henry's KCNB1 mutation is mosaic and therefore we are unable to determine the precise ratio of affected cells to normal cells for any given tissue or organ type. However, given the mosaic result, we would anticipate that Henry's case may be more mild compared to other KCNB1 related disorders that are not mosaic.
Henry is verbal, mobile, and loves to run and jump. He receives PT, OT, and ST. His speech is considered to be severely behind the curve. However, he talks in stunted sentences like "Mamma, Henry golf cart ride! Me, you!" which enables us to hear him loud and clear when he wants something. If you ask him to point to the black car he will do it. But he can't always tell you what color the car (or flower or whatever) is. He understands almost everything we say and ask of him. He just can't spit it back in the same way. He also is very repetitive in his speech. It almost feels like he enjoys or maybe is practicing saying the same phrases over and over. I hope to learn more about this.
Henry is affectionate. He loves his new baby brother, Robert. He loves his parents and grandparents and cousins. He gets along well with others and is quite charming. Henry is also willful and stubborn. Not a natural pleaser, but has a very pleasing way about him - if that makes sense.
He is in a special education program at his school and has improved quite a bit. He has never regressed to date. Slow progress but he pushes forward. Sometimes there is a big jump-his language was like that. ADHD is part of our picture though we haven't started medicating him for it at this juncture.
Henry's official diagnosis is: genetic test results which revealed a pathogenic variant in the KCNB1 gene (mosaic- 13.9% of sequencing reads). Because the result was mosaic, the change is most likely de novo. Most mosaic mutations are de novo, occurring after conception. As a result, recurrence risk for the parents to have another affected child is expected to be low or comparable to that of the general population. Fully predicting how mild or severe Henry's condition will be is not entirely possible given that 1) KCNB1 related disorders are highly variable 2) There is little information available in the literature about this condition in general given its rarity and 3) Henry's KCNB1 mutation is mosaic and therefore we are unable to determine the precise ratio of affected cells to normal cells for any given tissue or organ type. However, given the mosaic result, we would anticipate that Henry's case may be more mild compared to other KCNB1 related disorders that are not mosaic.