10.21.16 Gem in the Muck

In the middle of the muddiness of looking back at the past, there is one shimmering light. 

We feel a responsibility for not recognizing Aimee's seizures early on and having them treated. It is heartbreaking. Yet, this new information is creating a hope as well. In the past we have been hesitant to ask Jesus to heal Aimee. When we prayed it was more along the lines of protection and maintaining health. We didn't know if this was what God intended when He designed Aimee's abilities. We couldn't ask Him to heal her brain, because as far as the information we had, it wasn't broken. We thought, based off the information given to us at that point, that there was some type of genetic mutation that caused all of her symptoms. We thought it was static. God made her this way. We love her. We're thankful that He made her. 

Now, we have this new understanding. There is a change in her genetics (though we don't completely understand it all yet). This is causing a processing error in her nerve communication basically. It is messing up the potassium channel and has caused seizures. We still don't know how much of Aimee's limitations are because of the seizures. We don't know how well her body would have communicated if we had stopped, slowed down the seizures earlier.

What we do have now is this new ability to pray, to ask God to restore Aimee to His design. What does that mean specifically? I don't know yet. I think it means communication. I think it means more ability. I think it means that her sweet spirit is intact and the way He designed it to be, but her brain and body have been hindered from their true design.

Will you pray with us?  

(Aimee meeting Caleb's new birthday bunny)

10.20.16

Not our very best week here. Aimee had two longer, consecutive seizures while at school on Monday and then she was unresponsive. The boys and I rushed in to pick her up. Since then she hasn't given me consistent clues. Urine retention, decreased temperatures, discomfort, difficulty with feeding rates, some increased phlegm, eye drainage. A few times I've thought maybe UTI. Other moments I think sinus infection. None of her symptoms are extreme and she has not continued to have increased seizures. She is not herself though. Just keeping her here and keeping our eyes out for any abnormalalities. Here is hoping it was just an off couple days!

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... 

10.6.16 Confirmed

Though we have yet to receive the official   diagnosis, the Neurodevelopmental doctor did let us know that the clinical testing confirmed the genetic research. KCNQ2. Letters that we had never even seen put together before. In November we will learn more from the Neurogenetics clinic. 

In other news, the trial of the irrigation enima was a major failure. This means that our remaining options are all surgical. We feel that we can continue with the prescription enimas for now, but are concerned about what comes next. The medications are already becoming less effective even in adult doses and combined.