Written by: Jacob’s Mom Kari
Jacob was born in January of 2011. He was born on his due date and was healthy weighing 8lbs 10oz and received an APGAR score of 9. On his third day, he had a blue spell that was not taken seriously. We were told it was because I had a c-section and sometimes babies born that way do that. We went home on day 4 and on day 6 it happened again and we called an ambulance. When they arrived, he was pink and crying and seemed fine. We opted to not go in the ambulance and go to our clinic instead to see his pediatrician. He did it in front of the doctor and that won us a quick ride via ambulance to Children’s of Minnesota, St. Paul Campus.
Two days into our stay, they confirmed Jake was having seizures. He went into status and was intubated and brought to the Pediatric ICU where he underwent other tests and we tried medication to keep seizures at bay. All tests came back normal except his EEG which was very immature and unorganized. We were able to gain some control over seizures and we went home after two weeks in the hospital.
The rest of his first year went like that. Seizures here and there, a few hospital visits. At six months, we started early intervention through our school district. He was evaluated and though we knew he was showing some signs of developmental delay, we weren’t prepared for how significant his delay was. We started having teachers and therapists visit us at home and work with Jacob.
At about ten months of age, Jacob started showing a pattern called hypsarrhythmia on his EEG which indicates Infantile Spasms, a harsh seizure that can be very damaging to the brain. The spasms themselves showed up a few weeks later and we were admitted to the hospital to begin treatment with ACTH (adrenocorticotropic hormone) a steroid that had to be injected into the thigh. We learned how to give him the shots so we could complete the ten week treatment at home.
The ACTH resolved the IS, but other seizures continued and a few therapists began noticing that Jacob had a lot of extra movement. We didn’t think anything of it. We just figured he was wiggly.
Right before his second birthday, he had a feeding tube placed because his low muscle tone was making it difficult for him to coordinate swallowing and he was aspirating quite often and developing pneumonia. He also had a double orchidopexy, to repair undescended testicles.
That spring was the first time Jake got RSV and had to be admitted to the hospital for a respiratory illness, we stayed for about three days. While that was happening, seizures were ramping up and not responding well to medication. By September that year, they had gotten very severe and were happening frequently. When he would seize he would also experience bradycardia (slow heart rate) and this made his neurologist (and us) nervous. He suggested brain surgery, a two-thirds anterior corpus callosotomy, to stop the seizures from overtaking his entire brain and hopefully slow them down altogether. A corpus callosotomy cuts the corpus collosum which is a band of fibers that connects the two hemispheres of the brain, cutting them would hopefully keep seizures in one area. We elected to go forward with the surgery. Jacob had brain surgery on October 22, 2013. After it was finished, his neurologist informed us that the EEG was looking much more organized and the surgery seemed to be a success.
A few months later, we found out we were expecting our second child!
Jacob was seizure free for six weeks. Six weeks of total bliss. So many smiles and giggles. We hadn’t seen his smile for over a year. It was a joyous time in our lives. The surgery was no doubt a success even though seizures returned. So did respiratory illnesses and we found ourselves in urgent care one night about a week before Christmas.
When they were unable to support Jacob, they called an ambulance and we were brought to a nearby hospital where Jacob was sedated and intubated. We were then transferred to Children’s where we spent Christmas and New Years, but at least by New Years he was doing better and was awake.
That stay was the first time a trach was mentioned to help him with respiratory illnesses. We didn’t think he needed it. We went home and enjoyed spring as much as we could. That spring came with our first taste of advocacy and we went to the Minnesota Capitol and fought for medical cannabis to be legal in Minnesota. It was a success! The law passed but we still had to wait a year for the medicine to be available. Elsa arrived at the end of the summer!
Through all of this, we were still battling daily seizures and the movement, now diagnosed as dyskinesia, had become very severe. The fall and winter came with seizures, mild illnesses and mostly just a lot of family time getting to know Miss Elsa, the newest Olavson.
We also started working with homecare nurses that summer and it was life changing to have the help caring for Jacob. There is a balance somewhere in there of tolerating extra people in your home because of the help they provide. We got more time to be mom and dad and not nurses.
In Spring, Jacob really gave us a scare and stopped breathing on the highway on the way to Children’s. He had a respiratory bug but we thought we were okay to get him there. We ended up pulling over and calling 911. This lead to a ride to Children’s and eventual intubation. It was a bad illness and his left lung was mostly full of fluid with little function. He was intubated and sedated for two weeks. The trach came up again. We said no again.
We were discharged and ended up back in after 36 hours. We knew the trach was what he needed and finally agreed to the procedure. We were so scared but it proved to be a game-changer. You have a lot of power when you have a stable airway! That was in May, we went home right at the end of the month and in July we were able to start medical cannabis!
The first dose changed everything. He went from intense, uncontrollable movement for hours at a time to still, peaceful comfort. We had hoped it would help seizures, we didn’t realize the difference it could make for dyskinesia and other movement disorders. It did calm down Jacob’s seizures, but did not stop them.
That summer was amazing. He was able to go to outpatient physical therapy and occupational therapy, he went to summer school and rode the bus. He rode a horse. He went to the state fair. He smiled a lot and had minimal seizures. It was an incredible blessing.
Fall and winter came with more respiratory illness and he just never seemed to fully recover. We had to change our plans to starting kindergarten at home because he was unable to tolerate the bus. Sometimes he would have to stay in bed because his body just didn’t want to be up in his wheelchair. So, we started embracing good days. We started changing our home to make his life better. We put a shade tent on our deck, and we got him a flat swing so he can lay on it and rock. We modified the bathroom and are soon having a lift system put in to save our backs!
In the spring, we learned after some genetic testing, that Jacob has a mutation of the CACNA1A gene. But, so does Kirk, so they said it couldn’t be a definitive answer and we were finally able to get Whole Exome Sequencing covered by insurance.
This May, we decided to bring Jacob to a monster truck show, along with races and drifting. We were gifted tickets from HopeKids here in Minnesota and it was a beautiful day. Part way through, I was looking at his hands and noticed they were very pale and his nails were blue. But he was responsive, his oxygen level was good, he was smirking when he heard the loud trucks. We didn’t think a lot of it, it happened sometimes. But, we did decide it was time to go… the wheelie contest was over anyway.
In the van, I called the pulmonologist on call and he suggested heading into Children’s just to be safe. So, we took a slight detour and went to the emergency room. When we arrived, Jacob was crashing. His temperature was 94.5F and his heart rate was 40. They thought he had sepsis but in hindsight, it was a dysautonomic event. His autonomic system freaked out from overstimulation.
He was resuscitated in the critical room with a pile of doctors, nurses, and respiratory therapists present. Every test they ran came back normal, which indicated he had a dysautonomic event. I hadn’t realized until then that dysautonomia could be fatal.
We stayed in the hospital for five days. We ended up increasing his ventilator settings and changing the mode to be more supportive. They called it a “tune up” which is a great way to explain it. Prior to this we saw a spike in seizure activity. His team figured that maybe his body was slowly becoming stressed because it needed more support, and this eventually caused a much larger issue. The event, as we now call it.
And then, a few weeks later, we got a crazy call from our genetic counselor that WES results had come back and they had an answer for us. GNAO1. Early Infantile Epileptic Encephalopathy – type 17. An answer after 6 ½ years.
So, like any medical mama, I scoured the internet for information and found The Bow Foundation. And, here we are.
You can read more about Jacob and his family on their facebook page Jacob’s Journey – Olavson.