I just...

Okay. This is ridiculous. 

We sent the kids off to their grandparents "up North" this weekend. They had a blast! They got rides on the four wheeler, played in the snow, baked cookies, and got to see some extended family. After a bad week, they needed something normal for a while. 

On the car ride home, Cady seemed off. She kept wringing her hands and getting wiggly. I asked if she was alright and she said she was fine. After a few hours home, we were just watching TV and she says, "Mommy? I feel like maybe the Thing is happening in my hands a little bit." My heart drops and all the anxiety is bubbling to the top again. We call it a SadMad. I stay calm and we all crack jokes. We gave her some Diazepam and let her watch some Youtube videos. We gave her the rest of the cocktail too. Tylenol, Oxcarbazepine, Acetazolemide (that's the new one) and the Amoxcillin. She told me that the Amoxcillin tastes like barf. We know. It always has, and it always will. I know it's only been a week or so, but the Acetazolemide makes her... bitchy. Theres no other word for it. It's a mean thing to say about a six year old, but it makes her whiny and mean. I can't get her to do anything without arguing about it. 

We have a doc appointment Tuesday to speak with the neurologist here at Maine Med. We don't know what to do. Luckily, they have been on February vacation all week to try and re-adjust to "normal". Whatever the hell that is. We'll see if she feels well enough to go to school tomorrow. She's always so worried that it will happen at school. It consumes her. All we can do is validate her feelings and try to move past it.

She's becoming more and more aware that she is very different from other kids. I try to remind her that other than her KCNQ2, she IS just like other kids. Her sister takes care of her too. She puts on a show and tries to make Cady laugh with weird voices, funny songs, and outrageous dancing. 

We're a good team. We try anyway. Our lives are full of love and laughs right alongside the pain and fear. 

I can't say anymore. See you soon.

This is us

I realized that I have jumped right into the story without first introducing the rest of us properly. I'm hoping that some of you readers are "from away" as we Mainers say. I just joined Facebook for the first time in 4 or 5 years in the hopes of promoting this blog to spread awareness about KCNQ2 and other types of epilepsy. For those of you who don't know us personally, heres a brief introduction. For those of you who do know us personally, this is why you haven't heard from me in a long time. 

This is my husband Patrick.  He's a keeper. He loves the outdoors, sports, and music.  He's very outgoing and well-rounded. Despite the serious face in this photo, he's got a great sense of humor. He's a fantastic dad, a great husband, and an all-around awesome guy. I'm lucky to have a husband that lets me be me and makes me laugh. He works hard for our family and we love him to pieces. I honestly can't say enough good things about him. He keeps me from falling apart most of the time. In a time where so many people are busy tearing each other down, we hold each other up. I am proud to be called his wife.

These are our daughters, Cadence and Addison. They are not only sisters, they are best friends. They are good for each other. They love books, art, music, movies, making messes, and driving me crazy.  They love hiking, fishing, camping and school. We just got back from a trip to the library for February vacation. They love the library, but we don't get there much during the school year. The picture below is of a trip to Hedgehog Mountain in Freeport Maine. They love all animals, even gross wiggly, prickly ones like the grasshopper in Cady's hand in the picture. They love everyone and everything. Especially each other.

These are our pets. Shady Lane is the twelve year old Husky/Shepard mix. Tela is a  two year old Samoyed. The cat is Zelda. All girls. My poor husband is the only male in the household. They all play and coexist with out much shenanigans. 

 This is me, Erin. I love hiking, fishing and camping. I like music, reading, writing, cooking, and movies. I like quiet things. I keep to myself.  My humor is dark and witty. The kids take up most of my time, and I am happy with that.

That's us! We are happy despite the obstacles life throws at us. Thank you so much for staying tuned. The good and bad news is that we'll probably always have quite a lot of stories to share with you all. Our hope is that after you read it, you share it and it reaches others and touches their hearts as well. Share it with friends and family on social media and by word of mouth. See you next time!

Here we go again...

Just last week we were back at Barbara Bush.  We spent 12 hours (again) in the ER waiting for a room to open up upstairs. Cady had an episode triggered by a fever of °103 that came on suddenly and hit her hard. Her emergency dose of Diazepam didn't work and we wound up there for three nights while they tried to find the cause of her fever. It wasn't until the morning of the last day that the docs found signs of an ear infection. She had tubes put in both ears about a year ago due to a ridiculously high amount of ear infections the year before. They put her on Amoxcillin. 

9/4/2017

This and the previous episode last September that landed her in the hospital have taken their toll on us all. Most of all, Cady. She is not only worn out physically after the rigidity, but emotionally. In addition to the Trileptal, she has also been given Acetozolamide. The game plan is to wean her off the Trileptal and see how it goes.

2/13/2018

 "See how it goes." I don't think I could roll my eyes any harder and not have them just fall out of my head. Frustrated isn't even in our vocabulary right now. It's the best we can do, though. We are safe at home and together, and that's the only thing that matters right now. Cady and Addy are together again and all is well in the world. 

Cady slept most of last week. She missed her 100 days of school celebration, and the class Valentines Day party. She was so bummed out. She has expressed feelings of sadness, and helplessness. She asked us not long ago why she was born like this, and why her sister was not. This led to the declaration that she wished she wasn't born at all. She is six years old. My heart stopped. I immediately reassured her that there are tons of people who are glad that she is here and that we all love her very much. Our hearts broke again for her. Whether that was the meds talking, I don't know. I realized then and there that there has to be something I can do to reach out and spread the word.

For the first time in probably five years I rejoined Facebook. You can also find me on Instagram. Please. Don't hesitate to pop in and say hello.

Fun Fact: In our eleventh hour at the ER, Rob Gronkowski of the Patriots was upstairs at Barbara Bush signing autographs. We completely missed him by 45 minutes. My poor husband was beside himself. So close...

It's funny how we got here...

There were many times that we were sure it would never happen.  Four years and two miscarriages were more than we ever thought we could handle.  I'll spare you that part, because there are so many of us out there with the same story. Losing a child at 8 weeks in the womb is hell, I won't lie. I thought I'd never recover.  I feel like it only made me stronger.  That prepared me for the bizarre journey ahead.

Fast Forward...

On April 6, 2011 we had our first child. Cadence Theresa Kelleher. Even on her first day in the world, she displayed that signature defiance we all love her for today. 14 hours of labor only to have a c-section. Exhausted and elated like any new parent, we revelled in our new joy. The next couple of days changed our world forever.  My husband went to work and to class like any other day, ever diligent in his pursuit to finish college so he could just focus on his new family.  I was trying to nurse, but she just wouldn't latch on. When suddenly, she rapidly changed color. I tried to find the buzzer for the nurse, but in my panic, I could not. I got up and laid Cady down in the bassinet and shuffled to the door in pain to call for help.

They whisked her away and told me that it appeared she had suffered a seizure.  Something that had been on my mind for years. When I was a child I had suffered from benign Neo-natal seizures that I ended up "growing out of." I never really understood that expression.  Like, whose to say I won't hit 40 and die in a car crash because I had a seizure? If theres a problem with your wiring, couldn't it kick you in the ass one last time? The brain has ways of repairing itself, though, and I suppose the world moves on as it should. I apologize for the distraction, but the backstory is of some importance as well, and cheerfully morbid is sort of my character description.

They sent the three of us to Barbara Bush hospital in Portland, Maine. We spent three months there while they struggled to find a medication to keep the seizures at bay.  We spent every awful night away from her at the wonderful Ronald McDonald house. Mere blocks away from my poor child in the NICU felt like millions of miles. My poor husband was still desperately working toward graduation. It tore him up, but he kept it together as best as he could and we are all the better for it.  She was given Keppra and in one 24 hour period, she had 24 seizures. I think that was the day I told the nursing consultant to get the fuck out of my hospital room. In my defense she told me to "milk myself like a cow." The head nurse was understandably worried about me, I told her that I am always this anxious and that the milking lady got on my last nerve. She laughed when I called Cady a jerk for having her first projectile shart on me. Margot, wherever you are, we love you.

Eventually, Cady stabilized with a combination of Phenytoin and Phenobarbital. We were sent home with a diagnosis we had never heard of before, KCNQ2. This series of letters and a number infuriated us more than anything, because no one, absolutely no one knew anything about it at the time. All we could find out was that it was a genetic mutation involving a hyberexcitability of the nerves. We gave her the meds and she was pretty good. We weaned her off of the Phenobarbital but continued with the Phenytoin. Time went by. Counting ourselves lucky,  we just enjoyed it. Photos, videos, sleepless nights with a beautiful baby girl. I had a hard time sleeping and would wake up at all hours to just look at the little pink, smooth, screaming thing that we had made. I still do.

When she was two we consulted the docs and ended up taking her off the Phenytoin too. One year of not going to the hospital to be stuck with needles and have what I can only imagine feels like goddamn alien invasion to a teeny baby. Poked and stabbed and sedated like an animal. Studied like a textbook. It felt like such a victory to us. Maybe we could write it off as benign like my seizures. Maybe it's just that simple.

Fast Forward...

When she had been completely stable for an entire year. Not a single sign, no meds, no doc visits, no hospital stays. Nothing. Out of the blue, at the age of 3. She woke in the night and started screaming incoherently. She was convulsing in 30 second episodes. We were just holding her and crying when when we called the ambulance. By the time the EMT's got there, she was fully cognizant and not showing any symptoms except a high fever.

Then not long after that she started experiencing bouts of rigidity that wouldn't loosen up on their own. Her hands and feet would freeze up and display in a way very similar to Dystonia. It was a sort of episodic ataxia. Several times she was sent to the hospital where they would give her a cocktail of just about everything they've got. Diazepam, Fentanyl, Morphine, Ativan...the list goes on.

We contacted Boston Children's hospital. Just like the first hospital, they are an amazing institution that has done phenomenal work. Two fantastic hospitals in their own right. Unfortunately, neither institution knew much about the disorder. There are so few cases of KCNQ2 and the symptoms are so diverse. It's hard to study something that has no information backlogged for them to compare it to.

They put her on Baclofen which seemed to help. They suggested bloodwork and meeting with movement specialists. We ended up moving on to where we are now at Massachusetts General hospital. Dr. Chu has suggested genetic testing. She also prescribed the Trileptal. There are still episodes, but we are able to fix a lot of them at home with the emergency dose of Diazepam.

She is 6 now.
She has a 5 year old sister and they are the best friends ever.

June 19 2012, her little sister Addison Elizabeth Kelleher was born C-section. We joked that she started talking and running as soon as she was born and she hasn't stopped since. They do everything together. They love hiking, mud, reading, art, music, cooking. They are just regular kids. Addy does not show any signs of the disorder. 

Ninety percent of the time she is running and playing and laughing. Then there are days she can't walk. She is in unfathomable amounts of pain. She is fully conscious during all of these bouts of rigidity. She is very self-aware and can tell you exactly what is happening. Keeping her calm is all we have to do. Hell, its all we CAN do. We have to appear calm when on the inside our hearts are breaking.

She recently had her very first episode at school. Luckily, her bus driver, school nurse, and most of the office personnel witnessed it. As you can imagine, they were freaked right out. The good news from that is now they know what it looks like. Before this, everyone had been just speculating about her condition. If it looks A, we do this; if it looks B, we do this. 

We started this blog in the hopes that we can reach out to others affected by this. Please feel free to comment below and share your stories. We want to hear from you!