When Nancy Musarra’s young son looks at his newborn sister and says, “This baby is broken,” she can no longer ignore the possibility that something is seriously wrong.
Transcript
When my second child was just three weeks old, I knew something wasn’t right. It wasn’t one big dramatic moment, it was a string of little things that didn’t add up. When I held her, her tiny body would just tremble. When she was sleeping in my arms, sometimes she would jerk and it would be like, “Oh, my gosh, this girl is going to fly out of my arms if I don't keep a hold of her.”
And then there were the screams, and no one could doubt those screams. They were heartbreaking and piercing. Sometimes they’d last for minutes, sometimes for hours. But then after she was kind of done, she would act like nothing happened, and they would just suddenly stop.
She just never seemed at ease, though. Her little body was restless. She kind of acted like something really bad was going to happen, but then in minutes, things looked like they’re going to be okay.
When that would happen, I would think to myself, “Alright, maybe things are normal. I'm exaggerating or something.”
But, really, the little things were adding up. And one day my three‑year‑old little boy said to me, “Mommy, this baby is broken. We have to bring her back.” That was my wake‑up call.
I packed up the notebook that I kept by her crib, the one filled with scribbled notes at every scream, every eye movement, how she would sleep, how she would eat, everything I could do. And I brought that notebook to the pediatrician.
And that pediatrician knew me, and I knew she believed what I was saying and took me seriously. But that day, my daughter was not showing her anything that I had said. She was giggling and cooing, and she followed that little light pen like she did it 100 times before. And it was like, what could I tell you?
The doctor was like, “Nancy, I don't know what to tell you. This baby looks okay.”
And then she said, “Just keep an eye on things. Call us if something happens.”
So as time went on, I can’t believe I'm telling you this, but things actually got worse. The tremors and the screams turned into tonic‑clonic seizures. You’ve probably seen them in the movies, but that’s when the whole body shakes and stiffens. It's hard to watch.
It's hard to even watch when you’re watching it on a movie, but when you’re watching it on an 11‑year‑old baby, you have a grand mal seizure, or now it's called tonic‑clonic seizure, it is terrifying.
I called 911 more times than I could count. Most of the time the emergency room services came to our house, but sometimes we were out and about at a store or something and they would have to come there.
If she was in the car and she started seizing, we would detour right to the ER. And I would whisper like, “Mommy's here. You're okay.” But, honestly, I had no idea if she was going to be okay.
Soon, she was having up to 22 tonic‑clonic seizures a day. And her body, obviously, could not rest. But, you know what? Neither could mine. We lived in and out of hospitals, hours waiting in the emergency rooms, doctors checking her, then she would settle down, they would discharge us. And they would discharge us with a little paper, but there wasn't a diagnosis on it. There wasn't an explanation on it. There was nothing, just seizures, not otherwise specified.
And it was really hard to find peace and settle down, because nothing says “peace of mind” like endless medication changes paired up with a constant state of “what the heck's going to happen next?” You just didn't know.
Back then, I thought the hardest part was not having a name for what was happening. But now that I'm an older mom, I know it's more complicated than that, because now I talk to parents today who actually do have a diagnosis. But guess what? They worry just like I did, because you could have a name for something and you still don’t know what you’re dealing with.
And the fear of all that doesn't disappear, and neither does being misunderstood by professionals. This certainly happened to me during one emergency room visit I will never forget.
My son, who was three years old at the time, wanted a Happy Meal . I don't know what they're like now, but back then the toys were pretty good, so we were going to go get one. I promised we would get one, and here we were driving. But, on the way, my little baby had a seizure. We were in the car. She was only 20 months old so we detoured straight to the ER.
The emergency room, we’d been there before, they immediately admitted us to the neurology department and had us wait in a small waiting room.
Hours passed and I was trying to entertain my little boy with the little rubber things that they have in there for medicine cups and making paper airplanes out of the paper towels that they have in there. That was about it.
Finally, a nurse stepped in and announced, “We've identified a possible diagnosis,” and then that was it. It's all she said. She just walked right out. But before she did, she hung the chart on the back of the door.
Now, remember, this was back in the ‘90s before digital records were available, so everything was written in paper and pencil. I waited 15 more minutes and I'm like, “That's it. I'm done.”
I grabbed the chart and I started reading. Page after page, I read symptoms, medications and all the dates of the hospital visits that, to be honest, I forgot most of them. I'm like, “Really? I've been here that many times.”
And then on the very last page, written bigger than anything else was “Working diagnosis, rule out Munchausen Syndrome.”
Look, I'm a psychologist. I know exactly what that means, and I knew what it meant back then. For those of you who do not know, it means that somebody, not something, somebody is causing this illness or these problems for this child. Sometimes that really happens. People cause problems to their child because they want attention or pity. But in this case, that someone they were talking about was me.
So I'm like, “What? They think this is a game and it's me? I'm making her sick?”
I felt my body fall asleep, like you’re numb. I was stunned. I was really mad. I was furious. But most of what I was feeling was so disappointed. I still actually feel that now when I say this story because after all those days of watching her and writing down every single thing I could see in the day, observing her all and listening for any noise at night, and then getting up in the middle of the night and writing in my notebook real quiet so that nobody else would wake up, and I tried to give them all the information thinking if I gave them everything, somebody's going to figure this out. But then their conclusion is, “Oh, we figured it out. It's you, lady.” Are you kidding me?
And then I thought to myself, “You know what? What if they were right? Wouldn’t that be easy? Just get rid of this mom. Problem solved.” That would have been so simple.
Eventually, because I couldn’t just leave even though I was feeling so weird about this, I had to stay there and make sure they gave me the baby back. Eventually, the whole treatment team came in. There were like six people standing there.
And the nurse who made her big announcement stood next to this tall, skinny doctor, and he's holding this chart. He wouldn't make eye contact with me but she sure did. In fact, she almost looked proud about her investigation.
I just thought, “I'm just going to let him talk.” I said nothing, knowing they were wrong. And I didn't even have the energy back then to fight a battle that just wasn’t worth it.
But he kept going. He pointed out that I’d been in the ER 15 times in that past month or two months, whatever it was. That they had tried seven different medications for a 20‑month‑old child that was impossible. And that they’ve run every test and they’ve come up with nothing. So they were suspicious. They didn't say the words “Munchausen Syndrome”. I already knew, but they didn't say it. But they said, “We're suspicious and we're going to keep an eye on things.
So that day I left with my sleeping baby in that little carrier and my three‑year‑old trailing behind us.
When I think about that day, I don't even remember if we got the Happy Meal. What I do remember is eight days later, I gave birth to another little boy, my third child. And I did wait for protective child services to come and ring my doorbell, but they never came.
The years after were a big blur. In fact, if you can believe it, things got worse. There were seizures, developmental delays, problems with speech, problems with balance, years of searching for specialists and traveling to see anybody that would see us. Still, no answers, no seizure control.
And we did try, I think, over 14 medications. Some were FDA approved, some weren't. We were stuck.
I remember telling my friend Corey, “One day, if I ever figure this out, I'm going to find everyone else in the world who has this, because there's no way my daughter is the only one.”
A few years later, when she was seven, somebody suggested genetic testing, so we did it. This was kind of simple. It was a blood draw. It wasn’t anything like the muscle biopsy, and it wasn’t anything like the spinal tap. If you’ve ever watched a spinal tap, you certainly know what I mean.
So, we waited for the results, but the results were like the wait stretched out for months and years. In fact, it was 12 years. 12 years of notebooks and going to specialists and knowing nothing. Finally, when my daughter was 19 years old, and I'm not even kidding, 19 years old, genetics called.
They called us in, we went in, and I saw this paper. They gave it to me and it said not much, but it did say a diagnosis, KCNA2 epilepsy. That’s a rare genetic epilepsy connected with the potassium channel that’s not working right.
You think the diagnosis, finally having one would bring relief. It did, but it really just fell flat because there was still, you know, we had a name but there was no roadmap. There was no treatment option. There were no medicines, no cure, no nothing. So, without a plan, all you really have is a new set of questions.
But something shifted because I kept thinking, “Wait a minute. Now I can find everyone in the world with this because I know what it is.”
So I did. I started with a Facebook group. Eventually, a few families joined from every corner of the world. And these families are all different. We're from different cultures, religions, races, background experiences, but we all have one thing in common. First, we have a diagnosis of KCNA2. But, secondly, we are all a group of relentlessly resilient parents.
And I see it in every single parent I meet. Parents who will not allow their child to be defined and just seen as a label. These parents see their children as just like they are. They're more like other kids then they're not like other kids. They have dreams and passions and interests and everything that every other child has.
And the other thing they can do is they can meet a challenge that most adults, they couldn’t even deal with these things for an hour, let alone a lifetime. So our kids have grit, and that’s something that no one denies.
Once we created the KCNA2 Epilepsy Foundation, we connected with researches and we started sharing our stories. And if there's one thing this journey has taught me, it's that the uncertainty, it never ends, because we still don’t know. But the isolation can end. We don’t have to be alone, even though we don’t know what’s going on.
I started out as a young mom with a notebook trying to get someone to believe me. Now, I'm an older mom and I know that I'm not the only one that was diagnosed or suspected of Munchausen. I'm not the only one that goes to the emergency room and people think you’re a drama queen. I'm just not the only one. Other parents have their own notebooks, their own fears, their own long nights in the emergency room. The difference is we're not alone.
And all that waiting and that unknowns we still face, I just won't see that as a void. I see that as a platform. And because we know we're a rare epilepsy group, we've joined with other rare epilepsy groups. And we are all on a platform and there's room for all of us. Because even when the answers are slow, connection does not have to be. And sometimes, that connection is the most powerful medicine we have.