10.11.16 Painful Regrets

It is a lovely morning outside, but here inside the house it feels oppressively dark and stormy. I am sitting nauseously reading over paperwork from Aimee's Neurology appointment yesterday. This was not the big appointment where we learn all about KCNQ2, but because there are treatment implications we met with the epilepsy specialist. She gave us copies of the research results, as well as, a copy of findings for treatment of KCNQ2 encephalopathy. There is limited information as this severe version of this mutation is really rare. According to this research from Meyer Children's Hospital in Italy, there are 50 patients identified to date internationally. 

We had given up on finding answers for Aimee, so reading an overview of 15 kids with the same condition is surreal. There is much to feel. At this moment though, what is hitting hardest in reading this material is the repetition of statements showing that early recognition and treatement may be important for reducing neurodevelopmental impairment. 

2 of the patients in the study were seizure free due to treatment within the first 2 weeks of life. These 2 only had mild cognitive impairment. 

All of the patients seizures started between day 1 and day 4 of life. All of the patients seizures recurred quickly with discontinuation of drugs, including status elepticus. 

It is hard to type or think these thoughts, but it is possible if we had recognized Aimee's clues early on, if we had been concerned and taken her in sooner... it is possible we might have prevented some of her impairment. There is no going back. This is sickening and painful. Oh Aimee... I didn't know...