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...
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!
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