‘Teachers noticed my 5-year-old making weird movements. ‘It’s all in her head,’ the doctor said.’: Mom demands answers for daughter who has 15 episodes a day of what appears to be seizures, actually is PNKD diagnosis

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“My daughter Madie started kindergarten like most 5-year-olds. Eager for what was ahead, and ready to learn and make new friends. We had no idea her first year in school was going to test us in ways we couldn’t even imagine, or prove just how strong my daughter was.

A few weeks into the school year, I received a call at work that, while at her after school program, they were watching a movie and the teachers noticed Madie making weird movements. They said her head tilted back and her arms were moving back and forth. I called the doctor right away and they said she might have had a seizure and to bring her in right away.

We had scheduled an appointment with a neurologist where they did a test right there to see if they could get her to have a seizure. They had her blow on a pinwheel (she grew to hate these tests) to try and trigger something. It worked. After an MRI determined abnormal activity, she was diagnosed with absence and petit mal seizures. As scary as this was to hear, we at least knew what was wrong and how to help her. She was given seizure medication to combat the seizures and we thought she was on the mend.

Young girl with absence and petit mal seizures smiles in hospital bed
Courtesy of Anj Little

Madie continued to have what we thought were seizures. But they were lasting longer than the few seconds we were told they would last. Her neurologist at the time continued to up her meds or give us a new one to try, but the seizures never stopped. In fact, they seemed to be getting worse. In a short period of time I think she was given about 4 seizure medications to try. The side effects in some of the medications were horrible. She was allergic to one of them and another brought on awful side effects.  She had follow up EEG’s that now showed normal brain activity, however she was now have up to 15 episodes a day. Eventually we were sent to Hershey Medical Center to their pediatric neurology department to see if they could help us. It got to the point where Hershey was unable to help us and we were referred to CHOP in Pittsburgh.

Little girl with absence and petit mal seizures cries in hospital bed while holding onto towel
Courtesy of Anj Little

Madie continued to have these strange ‘spells’ where her body would essentially paralyze itself and she was unable to move or talk, or occasionally she would have involuntary movement of her arms or legs.  She was completely aware of what was going on around her though because she could tell you about conversations she heard when she came out of these episodes. She started out having just a few a day in Kindergarten, but by 3rd grade, she was having about 15 a day. She was pulled out of school for a month while we tried to figure out what was going on. She was at Hershey for a week while they did video monitoring. She had an aid at school who would monitor her for safety reasons. She had to be watched while she was on the playground or walking in the lunch room because these spells happened at any time of the day.

The first time we went to CHOP, we ended up staying there for the weekend for more video monitoring. They didn’t catch anything. We went back around 6 months later for a follow up and this time I was fortunate enough to have one of these spells/episodes on video. The doctor we saw walked in the room, looked at the video and told me she is making all of this up. ‘It’s all in her head,’ and I should take her to a psychiatrist. At this point, I had been up since about 4 in the morning due to our 3.5 drive to Pittsburgh. I made it very clear I was not leaving that room or the hospital until someone could tell me what was wrong with my daughter. I knew she was not making this up. I was told she could see if the movement specialist was at the hospital, but he’s only there one day a month so it was unlikely.

Madie and I sat and waited, and after what seemed like an eternity, she came back down to tell us the movement specialist was at the hospital. Of all days, he was there the day we needed him. He came in and introduced himself as Dr. Coffman. He had Madie do a couple of tests and then looked at the video I brought. It took him just a few moments of watching the video to tell us he knew what was wrong with Madie. Paroxysmal nonkinesigenic dyskinesia, or PNKD. He was like our very own Dr. House. They took some blood do to genetic testing and set us up with an appointment as his office. Unfortunately, there is no cure for this or anything she can take to make it better, but we at least had an answer.

Little girl with absence and petit mal seizures smiles as she looks at her self in mirror seeing wires attached to her head
Courtesy of Anj Little

At her next appointment, we were told if the genetic testing came back positive, her immediate family would have to be tested. At that appointment it was explained to us that some kids stop having issues around puberty, but with others, it can get worse. We were told she could have an episode one day and then not have another for 20 years. According to the information given and my own research, these episodes can last for days. Fortunately for Madie, her longest one was only a few hours.

Her elementary school years seemed to be the worse time for her spells. They only lasted a minute or two but she was having so many of them throughout the day. Her life was constantly being disrupted. Every time my phone rang, my stomach dropped wondering if it was the school calling to let me know she was having an episode or that I needed to come pick her up because it had been more than 15 minutes. Eventually, her episodes became longer, but she was only having one or two a day.

Little girl with absence and petit mal seizures smiles in hospital with bandages on her hand
Courtesy of Anj Little
Close up of little girls hand who has absence and petit mal seizures that has IV in her hand
Courtesy of Anj Little

Her neurologist, Dr. Coffman, was transferred to Children’s Mercy Hospital in Kansas City, Missouri, and after another failed attempt at a neurologist close to home, we scheduled an appointment with him there. At this appointment, he explained to us they could do more genetic testing because they now had over 20 different genes to test, compared to the one 4 years prior. He also told Madie this could go hand in hand with a channel disorder, meaning the channels that connect her brain cells don’t always work properly and that can cause her body to ‘paralyze.’ Her brain needs to re-boot before she is able to walk or talk again.

Young girl with absence and petit mal seizures smiles in booth at restaurant
Courtesy of Anj Little

At the end of her 7th grade year, we celebrated a milestone I wasn’t sure we would ever see. Madie made it through her entire 7th grade year without a spell! I cried on her last day of school. I’m also pretty sure she laughed at me because I cried. Aside from the birth of both of my children, I don’t know that I’ve ever been so happy in my entire life.  Our visits to the children’s hospital will now be every few years instead of every year just to monitor everything as she gets older.

Mother smiles in selfie with middle school daughter who has severe seizures
Courtesy of Anj Little

Madie is now a 13-year-old 8th grader who is the life of any room she walks into. Her smile could light up the darkest of skies and she can make you laugh with anything she says or does. She plays roller hockey and loves going to the ice rink to watch her 3 brothers, Colton, Rylan and Chase. She is an amazing singer, even though she hates doing it in front of people. She has performed in the play each year in middle school and even went to theater camp this past summer. On any given day, you’ll find her at the ice rink or watching a Flyers or Golden Knights game. She’s my hero.”

Teen who has her seizures under control smiles while standing in home
Courtesy of Anj Little

This story was submitted to Love What Matters by Madie’s mom, Anj Little, of Annville, Pennsylvania. Submit your own story here, and subscribe to our best stories in our free newsletter here.

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