Four of us have KCNQ2 and we are living our best life

Before KCNQ2 was diagnosed officially- we highly suspected that our 3 kids and their dad had this condition. Diagnosed with BFNC as a child my husband lived his life with seizures during his infancy and teenage years. His father also had them, his sister, and her kids and some of his other nieces and nephews as well. The Gillies family seemed to have a strong family history for BFNC.

I began to dig deeply into it once we became pregnant with our first child. Quinn had seizures by day 2 of life, born 3 1/2 weeks before his due date in August of 2003 and he was whisked away to Boston Childrens and put on Phenobarbital and sadly slept through most of his infancy till he was weaned off at 15 months. His sister was born 6 weeks early in early December of 2004 and she didn’t have any seizures until she was 3 weeks old. Phenobarbital made her awake, and hyperactive as a baby until she was weaned off at 15 months. Our 3rd child, was born 3 1/2 weeks early and also had seizures within days of birth but we chose not to put her on meds and worked with our neurologist who at the time had heard of “a gene they are looking into” for BFNC.

All 3 kids had occasional seizures, absent, tonic clonic and other variations until about age 7. Then we had silence for a long time. No seizure activity for them or for John. He had one seizure at age 40 and another one at age 48, but nothing in between and was never put on meds (except when he was a baby and a teenager).

Meghan my middle, has KCNQ2, CAP1, Von Willebrand, POTS and Autism. My oldest, Quinn, has KCNQ2 and radio-ulnar synostosis and extreme pain with that, and my youngest, Erin, has KCNQ2, CAP1, adhd, and Hypermobile Ehlers Danlos Syndrome (which they got from me).

All 3 kids were diagnosed alongside their dad, grandfather, aunt and a few other members of John’s family in the fall of 2020. There were no lines/no waiting during the pandemic and we were able to do visits with genetics at RUSH Chicago virtually. Kits were sent to our house and Meghan got the Exome done, and John and I got a more extensive test and siblings, and John’s parents took the KCNQ2 test.

It’s a strong family history, of benign seizures. EEG’s never show any damage for our family and our type of seizure activity. All 3 of the kids and John have excessive sweating, increased pain sensations, migraines, muscle jerks (myokymia) and of course seizure activity (on occasion).

My now 20 year old Quinn is a successful Political Science student walking into Junior year at Gettysburg College, My middle, Meghan, 18 is going to Harper Community College as a Freshman and will be in their Autism transition program-taking regular classes with a weekly meeting with other TAP students and my youngest, Erin, is going to be a Senior in high school and will continue with her pursuit of all things drama/theatre related.

My kids and John (successful CTO for a software company) are living their best lives despite KCNQ2- we began a high potassium diet after our neurologist agreed to let us try that for Erin when we opted to not do meds. With added bananas, pumpkin and all things potassium in our diets they seem to have less seizures. There are a few families out there in some older research papers that I read that did the same and it worked. It may be an old wives tale, but for me, I feel safer/better knowing they each have a banana a day plus other foods with high potassium.

I may not have KCNQ2 myself but I have read hundreds if not thousands of papers/journal articles on it. Back when nobody believed me, it was a relief to get the genetic testing done and to finally have PROOF that I was not crazy. My kids have weird symptoms/issues sometimes and most of it comes back to KCNQ2.