Beauregard (Bobo for short) is always happy, clowning around, a very down to earth child. Myself, family, and teachers noticed he was significantly behind his peers. Walking started late, he wouldn’t speak, his legs were bowed, and his hands curled up to his body. It wasn’t until he started walking we noticed the frequent times he would stop and stare, appearing to roll his eyes. It took us many attempts (as parents) to get doctors to realize our concern for this. Finally, we decided to visit someone ourselves and called a Neurologist. The Neurologist scheduled him for testing which discovered he was having Absence Seizures.
Following an array of bloodwork, MRIs, EEGs, it was discovered he has tested for genetic KCNQ2, as a VUS (Variant of Uncertain Significance). This past year since the discovery of this has been life-changing. It is discovered I (MOM) is a carrier of this. I had issues as a child which presented the same way.
Currently, with the help of Epileptologists, Dieticians, Nurses, Occupational Therapists, Physical Therapists, and Speech Therapists – we have seen tremendous growth in his personality, abilities, and speech. He is still having some nighttime activity (seizures). I am thankful for the KCNQ2 Community for being so kind and helpful.