Connor was born in March of 2012. Ten weeks prior — at the 30-week ultrasound — we were told there was an irregularity of some sort on the heart wall. The explanation was vague. It might be nothing, or it might be <insert a bunch of big words we had never heard before>.
Tuberous sclerosis complex was mentioned as a possible cause, but it was such a vague maybe that we dismissed it when we Googled the stats. One in 6,000 live births. Well, it couldn’t be that. I was monitored carefully until Connor was born, but whatever was in his heart never grew or affected the heart function. Everything seemed normal until a few hours after delivery. That was when a nurse in the nursery realized he was having seizures. The next 37 days were spent in the NICU. The seemingly benign heart abnormality was confirmed as a marker of TSC. His MRI would confirm the presence of many tubers in the brain and a blood test would find a TSC2 mutation.
Phenobarbital was the first med. When that didn’t help, the doctors added Keppra. then Dilantin. Nothing worked. Connor was transferred across the street to the children’s hospital for surgery. Suddenly, the meds began to have an effect. The seizures weren’t stopping, but they were reduced. The surgeon felt it would be safer to send him home and do the surgery in a few months.
Development was extraordinarily slow. He couldn’t even hold his head up. He began therapy through the early intervention program. We returned to the hospital for surgery when he was four months old. The tuber in his right frontal lobe causing most of the seizures was removed. Seizures decreased and he could hold his head up within a week. We had an incredible month of seizure freedom. Then the infantile spasms started.
Vigabatrin got the IS under control, but eventually we began to see other seizure activity appear. We attempted to wean vigabatrin at one point, but the seizure count (complex partials) began to climb as we tried other medications. We saw two a day, then four, then eight, 12, and suddenly 50. Trileptal seemed to trigger a huge surge in seizure activity. We went back on vigabatrin as it is the most effective at controlling all his seizure types. He is currently on that and Onfi, a highly addictive benzo. To date, we have tried various combinations with seven different meds. He is also on the modified Atkins diet. It was very effective in the beginning. We went as many as 12 days seizure free, but complex-partials and clonic seizures have been breaking through again lately.
Our hope is that we can get pass legislation in Georgia in 2015 that will help everyone who needs it.
Connor is now 2.5. He just started walking, but he cannot speak yet. He loves cars and books. He deserves the opportunity to have the highest possible quality of life.