Alli was born at 38 weeks via scheduled c section. No complications at birth. I first noticed something wasn’t right at 2 months old. Her sleeping pattern changed from a sound sleeper to a colic type of sleep disturbances. Nothing I did would settle her back down. It was as if a light switch would go off and she was suddenly sleeping. I suspected a seizure 9 days after her first set of shots. My pediatrician responded to my email with, “If she had a seizure, you would know it”. Didn’t think too much about it again.
An example of one of Alli’s dyskinesias.
At 4 months she caught Hand Foot Mouth disease. Big tonic seizure. There was no mistaking that as a seizure. Ambulance ride to the hospital and discharged with an explanation of Febrile Seizures. I was told she would grow out of them.
We went to follow up with the neurologist, who ordered an EEG and an MRI. She also, ordered PT and OT evaluation, as Alli was behind in milestones. Allis EEG and MRI came back normal. We started OT and PT to address her not sitting up, rolling over, her weak right side of her body and her not showing interest in grabbing toys. When she tried to grab toys, she would miss them.
I brought up to her pediatrician multiple times her lack of interaction with me. I also noticed that she would sometimes struggle tracking items or people. She seemed to be farsighted. Her eye contact was off. She would stare into nowhere land. Her pediatrician did not seem concerned. I asked to see an eye doctor who dilated her eyes and said her eyes looked great.
Alli progressed well with therapy. She sat up at 6 months. She started to grab and investigate her toys at 6 months. She rolled over at 7 months. She crawled at 10 months.
At 10 months old she started to do these strange movements. At first I thought she was just excited about bath time because it would only happen when she got excited. Some kids make very funny faces when excited. Then one Friday evening she started doing them continuously. It just wouldn’t stop. It came in waves of 3, sometimes 10 times, one after another. She did these movements all weekend long day and night. It was the longest weekend of my life.
Monday came and her neurologist called me after reading all my urgent emails full of videos of this strange movement. She said come in right away. So we did. She asked me to describe the episodes. All I had to do was make alli excited to show her. Her neurologist looked puzzled and told me that they look like seizures but that she had never seen one triggered like that before. She ordered a sleep deprived EEG for the next morning.
We showed up for the EEG and if felt like forever. Afterwards, I was asked to sit and wait for the neurologist. I knew then that something was wrong. I sat in the waiting room with tears uncontrollably running down my face and Alli on my lap. When they called us back in, the neurologist explained to me that Alli had abnormal spikes. A lot of them. She admitted us into the PICU for a 24hr EEG. The neurologist wanted to rule out Infantile Spasms. She needed me to get Alli to do the movement while hooked up to an EEG.
The movements did not show up on the EEG. She did it multiple times and nothing. But what was certain is that her brain was discharging all over the place. Her abnormal spikes showed that she is susceptible to focal/partial seizures. Her neurologist came into the hospital and gave me options of testing. She offered metabolic testing, genetic testing and a stronger MRI at UCLA. I choose the genetic testing because it was the least invasive.
We started her on Keppra hoping the movements would stop. But they just kept going. We started to notice that the wind caused them more then excitement. We kept her indoors for 3 months and tried not to excite her. I had researched online that the more seizures happen, the more they build pathways to happen again. We were waiting for the Keppra to reach therapeutic levels. Her EEGs started to get worse. We were doing EEGs every 3 weeks. Every one of them got worse and worse.
The Keppra never stopped the movements. In fact, now she had started doing head drops while pushing her walker or placing her head on the floor when she was crawling. Always with a blank stare. Out of desperation I starting researching again. I found that Onfi was an umbrella type of antiseizure medication. If these weird movements were in fact different types of seizures, logically Onfi should help her. When discussed with her neurologist she agreed to try Onfi.
We saw two epilepsy specialist in a 1 month span. They had different theories. One said that if they didn’t show up on the EEG then they are not seizures and they may be behavioral. The other one said that they are seizures but are too deep in the brain to register on a scalp EEG. I asked them both what we should do. They said try the medications and see what works. They gave me a list of drugs to try and see if the movements stop. We continued with onfi and slowly weaned off Keppra.
The geneticist’s office called. Allis test results were in. 2 genes came up in the epilepsy panel, KCNMA1 and CDKL5. Also, she had a portion of her chromosome 5 that had duplicated. The genetics doctor told me that they needed to test both us parents to see which gene could be causing her epilepsy. I left that office very informed but had little understanding of what these genes do or cause when mutated. I googled in my car in the parking lot and just cried.
I went home and researched as much information as I could. I eventually stumbled across a support group for CDLK5 on facebook. I asked to join so I could see if these kids acted like Alli. They did not. It took me a while to find the KCNMA1 support group, but when I did, I knew this is what was causing her movements. The kids in there had something called PNKD. It looked so similar that I questioned whether alli was having seizures at all. I researched dyskinesia and asked her neurologist about PNKD. How to treat it and if it caused damage to the brain the way that seizures can. She informed me PNKD does not harm the brain and yes there are drugs to treat it.
The test results were back. KCNMA1 was “De novo”. Our neurologist referred us out to a movement specialist at CHLA. While waiting for insurance approval, I asked about the Keto diet and was informed it worked on Dyskinesia as well as seizures. Sounded like a win win to me. Lets try it!
Alli appeared to be doing better on onfi and the keto diet. Her episodes happened less frequent and we could finally go outside. She would still lay her head on the ground most of the day as if she was exhausted. It was hard to tell if her exhaustion was from seizures or just the side effects of Onfi. Alli seemed to be doing better, but we weren’t sure if it was the keto diet or the onfi. I told her neurologist to take her off onfi so we could figure out what was making the difference. Reluctantly her doctors agreed to help. I bumped up her keto diet during the slow terrifying wean.
Finally we got in to see the movement disorder specialist. I showed him videos of her movements and he said it could be seizures or dyskinesia. However, the awkward little movements separate from the big movements could be autism and that I should get her evaluated. He also explained to me about KCNMA1 and how it functions within the body. He strongly encouraged me to get her heart checked out. I informed him that she is on the keto diet and we are currently weaning off of onfi. He agreed because there doesn’t appear to be any drugs to treat this disorder. He suggested that I play with her diet and keep notes of the trials. Start with foods rich in potassium, then try Magnesium. So that is what we did.
While weaning her off of onfi amazing milestones were hit. The onfi was too sedative for her to progress and learn. The keto diet is what had been working this whole time. She still would randomly lay on the floor staring off throughout the day, but was progressing more than ever before.
After seeing the results of our facebook group’s google doc, I asked if we could test her for mitochondrial disease. Her blood and urine test came back negative and I refused muscle biopsy because it was too invasive. Allis dietician suggested ground beef because it is high in L-carninte which treats most mito disorders. After a trial of ground beef every day for a couple weeks, she had more energy and was laying on the floor less. Her dietician had her neurologist put in for the prescription. Within 2 weeks she stopped laying on the floor completely.
Her researcher called to inform me that preliminary findings showed that allis gene was creating a dysfunction within her BK channel and there had been studies linking DHA to activating BK channels. She suggested that we start a trial to see if it helped her tremors which in turn will help with her gait and coordination. It stopped her tremors and now she only has them when she is sick.
Currently today she is 3yrs old and is on the keto diet, carnitor and DHA. Her last EEG was abnormal but only had rare spikes. Now on a good day she will only have a handful of movements. She still only has tremors and seizures with febrile sickness. We have noticed along the way that she doesn’t regulate her body temperature that well. Also, she has bladder reflux up to her left kidney. She was diagnosed with severe to moderate Autism, but with ABA therapy she is making huge progress with social interaction. She said her first words at 35 months. She is moderately delayed.
For right now I am just enjoying her having a somewhat normal life compared to 2yrs ago. She has remained strong and happy through all her struggles.