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Undiagnosed to CACNA1A

Addilynn Leigh was born in October 2014. Her name honors her grandparents who are watching her from Heaven - Grandma Addie (Adeline) Lunstad and Gramps aka Terry Lee Carlson. Addilynn was always a cheerful, sweet, and easy to please baby. She was observant and quick to smile.

As Addilynn approached 4 months, we noticed she was a little behind with hitting her milestones and seemed to have low muscle tone (hypotonia). With the guidance of Addilynn’s pediatrician, she began Early Intervention and outpatient physical, occupational, and speech therapy services to address the developmental delays and hypotonia.

We began Round 1 of testing to determine the cause of the developmental delays and hypotonia. Addilynn visited specialists a few hours from home, had an MRI of her brain, and experienced the first of what would turn out to be countless lab pokes. By 2016, all the tests were completed and we were told to continue with therapies and wait at least 5 years before doing another round of testing because whatever was causing these delays probably had not been discovered by science yet.

Addilynn demonstrated a great work ethic and participated in her therapy sessions with smiles and giggles (most of the time). While we celebrated her many accomplishments, we were constantly haunted by the unknown…

In 2017, we sought out the opinion of a different pediatrician with hopes of finding some answers. We began Round 2 of testing. This was filled with more imaging, more specialists, longer road trips, more labs, and more normal results. We ruled out a lot of diseases, but still did not have any answers. In the fall of 2017, we were finally approved to complete a genetic panel and while we were waiting for the results, we were catapulted into the world of epilepsy.

Addilynn experienced status epilepticus (seizures lasting long than three minutes) in January of 2018. The seizures lasted for three days before they finally stopped. She was life-flighted to a larger hospital and was intubated in the PICU while her medical team worked to calm the neurological storm she was experiencing. She woke up with a traumatic brain injury, cortical vision impairment, and had the milestones she worked so hard to achieve completely wiped out.

The genetic panel results came in while she was intubated and seizing in the PICU. We were told that she had a variant on a gene called CACNA1A. In the next sentence, we were told she is the only one who has her specific variant. We were told there was no research, no targeted treatments, and no cure. The best we could do is try to control the seizures and get her back into outpatient therapies.

We learned that the brain wave patterns on her EEG were consistent with a type of epilepsy called Lennox-Gastaut Syndrome (LGS). Lennox-Gastaut Syndrome is a severe epilepsy syndrome. No one is born with LGS, it develops over time. This is why Addilynn was three years old before she started having seizures.

Throughout 2018, we focused on finding a new normal. One of the hardest things to get used to was the huge change in Addilynn’s personality. Our sweet, smiley girl had a vacant look in her eyes. She didn’t smile for six months and didn’t laugh for seven. While we were terrified of seizures, we were also terrified we would never get our smiley girl back.

While researching ways other than pharmaceuticals to treat epilepsy, we learned about the ketogenic diet. We were happy to learn that Addilynn’s team was familiar with the ketogenic diet. Given the severity of LGS, her neurology team was supportive of starting the ketogenic diet as soon as possible. Addilynn started the ketogenic diet in May 2018. While we were hoping this would be the treatment that would keep her seizure-free, it wasn’t.

Addilynn experienced numerous hospital stays starting the end of 2018 and throughout 2019. Some of the hospital stays were due to illness. Some were due to withdrawal symptoms as we tried to very slowly wean an anti-seizures medication that is preferred for short-term use due to its side effects. Some were due to seizures that affected our ability to safely care for her at home.

We knew that Addilynn was prone to something called a hemiplegic migraine due to her CACNA1A variant, but she had yet to experience one…until February 2020. A hemiplegic migraine looks like a stroke. One morning, Addilynn was fine…eating her breakfast and taken her medications, when all of a sudden her level of awareness changed. While we were able to get her to finish taking her medications, she just wasn’t “right.” Then she stopped moving her right side. By the time we arrived at the emergency room, she had regained some use on the right side, but then lost movement on her left side.

Thankfully, the emergency department works very well with her neurology team out of state. We got imaging and the wheels were put in motion for Addilynn to be life-flighted to her neurology team in Minnesota. The imaging revealed she did not suffer a stroke, but it was clear to all of us she needed her neurology team.

Once in Minnesota, she was hooked up to EEG and had a feeding tube placed through her nose. She was carefully monitored and we learned her new baseline after this event would include being unable to safely drink or eat. We had to decide if we wanted to work on this while she had the feeding tube in her nose or if she would have surgery to get a g-tube placed in her abdomen/stomach.

Addilynn is VERY sensitive about her nose. She was absolutely miserable. We decided to remove the feeding tube from her nose, get a speech therapy evaluation and trial some of her favorite foods to see if she would be able to maintain her nutrition and hydration. She wasn’t able to do this. After the initial learning curve, we realized that having g-tube improved her quality of life. It has also helped with recovery in future neurological events. She will have her g-tube for the rest of her life and we are thankful to have this as a part of her way to overcome the barriers CACNA1A-related disorders throw at her.

After the hemiplegic migraine in 2020, we had 11 glorious months of seizure freedom…and we had no idea why. She was on the exact seizure management plan she was on prior to the hemiplegic migraine, but they just stopped. We speculated that perhaps receiving her medications directly to her stomach caused them to be absorbed better and therefore increase seizure control. Well, our theory was disproven in January 2021. The seizures were back…and we were slowly losing control of them.

2021 was filled with medication changes…adding new ones, trying to get rid of old ones. At one point, Addilynn was taking 5 medications, was on the ketogenic diet, and still having multiple seizures a day. We were devasted and frustrated. Watching your child have a seizure and being unable to help makes you feel completely and utterly helpless. On the outside, you are doing our best to stay calm and talk to Addilynn with hopes that our voices will help calm her brain. On the inside, you are screaming “STOP STOP STOP!”

Addilynn also started to refuse to eat and limited herself to under 10 foods. She was starting to lose oral motor skills and due to the amount of specificity required for the ketogenic diet, we had limited ability to address this regression of skills. When we started the ketogenic diet, we were told at some point something like this could happen. Since she was experiencing multiple seizures a day, clearly what we were doing wasn’t working. We decided it was more important for her to maintain and improve her oral motor skills. We made the decision to begin the process of weaning from the ketogenic diet.

When making changes to both medications and her diet, we could only change one thing at a time. Addilynn had proven to be very sensitive to changes, so we had to go slowly. With the additional medications, we realized that one of them was causing her seizures to worsen, but you can’t just stop giving it or the worsening seizures can increase. This was a heartbreaking time for all of us. Addilynn felt awful. We felt helpless.

Despite our best efforts, in August of 2021, Addilynn required another life flight to Minnesota. The seizures had completely overtaken her ability to sleep. She was unable to sleep without requiring multiple doses of rescue medication. She needed to be under the direct care of her neurology team. Addilynn had over 500 hundred seizures in August 2021. We were told that at 7 years old, 4 years into epilepsy…there were no medications to try. We were out of pharmaceutical options.

Addilynn’s neurology team educated us on a device called a vagal nerve stimulator (VNS), which is a device that is surgically implanted. The VNS sends calming impulses to the brain at regular intervals via the vagus nerve. We were told 1/3 of individuals see no change in seizure control, 1/3 see some improvement, and 1/3 experience seizure freedom.

Addilynn had her VNS placed on August 28, 2021. She remained in the hospital until mid-September 2021. She still was having seizures, but the amount per day was greatly reduced and she was able to sleep safely, without needing a rescue medication. After getting the VNS and adjusting medication doses, Addilynn was able to have a season of calm and recovery.

In May of 2022 we were told it was time to make a plan for hip surgery. Because she has not progressed through her milestones like a typical child, her hips were partially out of the socket. Addilynn underwent this surgery in October 2022. A "typical" course for this surgery is 4-6 days in the hospital and 6 weeks with casts on both legs.

Nothing with a CACNA1A variant is typical and 4 days after surgery, on her 8th birthday, Addilynn's brain stopped triggering her body to breathe when she was asleep. Thankfully, she was still in the hospital and could be quickly attended to by her medical team. She spent time intubated in the PICU and a "short" hospital stay turned into a 3 1/2 week stay in Minnesota.

We came home and hoped we were in the clear until she was due to have her casts off, but this wasn't the case. She needed to be admitted to the local hospital for 2 more weeks because she was unable to tolerate eating and drinking without vomiting. She stayed in the local hospital with her care teams collaborating to keep her closer to home.

We have no explanation for why she experienced all of these unforeseen post-operative complications, other than the mysteries of CACNA1A. Addilynn has been on the road to recovery and while there have been some bumps, she is in a good place. She receives physical therapy, occupational therapy, and speech therapy services 3x a week. She is working on building up her tolerance to doing all the things she loves and will be finishing up second grade soon! We found an attachment for her wheelchair that allows her to glide across the snow and North Dakota has provided plenty of opportunity for fun times using these attachments. However, Addilynn is a fair weather girl and is looking forward to summer days going fast in the side-by-side and on the pontoon!


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