The First Trip to Mayo Clinic and the Real Diagnosis

Tom and Chase at the Mayo Building in Rochester

Anna entertaining Chase

The week of August 26, 2013 we drove the 6 hours to Rochester and although we were very worried about Chase, we didn't have many expectations out of the trip other than they would just tell us Chase was on the wrong medication and hopefully find the right one.  Chase had an EEG the first day and we met with the Neurologists for almost 3 hours that afternoon, just answering questions.  They did not give us any answers at that time so we were still pretty calm about everything.  The only thing they did tell us was that each of the head drops was a seizure, so he was actually having 50-100 seizures a day, which was not how we had been looking at it as we had though each cluster was one seizure.  They scheduled an MRI and spinal tap (Lumbar Puncture) under anesthesia the next day, and the following day he was admitted to the Epilepsy Monitoring unit at St. Mary’s Hospital at Mayo for 2 days.  The worst part of that was gluing on the long-term EEG leads for the hospital monitoring, which took hours while Chase screamed.  His head was wrapped to protect the leads and he had a little “backpack” of wires attached to him the entire time.  We had to remain in the small hospital room under video surveillance for the duration of the stay, which was pretty miserable.  

DIAGNOSIS

Right before being discharged from the hospital the team of neurologists came in to give us news that at first confused us.  They told us Chase’s diagnosis was Infantile Spasms (IS) or West Syndrome, which did not sound so bad at first.  We didn't understand why they had such a large team of doctors surrounding us and talking to us like they had to tell us someone died.  They were reluctant to explain what that meant but insisted that we need to get the seizures to stop as soon as possible and jumped into the options for medication, either Sabril (Vigabatrim) or prednisone (ACTH).  

They strongly suggested trying the Sabril (Vigabatrim) first, although there were serious side effects such as permanent vision damage.  We were still confused and looked at them like they were crazy- why would we risk his eyesight for this medication?  They just told us the benefits greatly outweighed the risks, so we trusted them and agreed.  They handed us pamphlets of information and told us to read them and they would return in a bit to answer any questions.  They said not to read a lot online because there was a lot of grim information out there. Unfortunately, in the haste of packing up the hospital room and dealing with Anna (age 4) bossing the nurses around and bouncing off the walls, we didn't really read the information.  We had read all about seizures before.  They scheduled our trip back in 2 weeks for another EEG and we still truly did not understand why we had to drive all the way back so soon.  Only on the way out the door did we read the information and it hit us like a train. 

Infantile Spams is a very rare and catastrophic form of epilepsy that, if left uncontrolled, can destroy the brain and lead to mental retardation or even death.  The statistics were grim- only 10-20% of children with IS had mental brain function later in life.  Even if controlled, most kids developed other types of debilitating seizures later in life.  The more we read, the worse we felt.  In an instant our dreams of Chase’s bright future changed.  We suddenly had a million questions for the doctors.  

During the next few weeks, Tom and I cried A LOT, freaked out on each other many times, did not sleep, and became very angry - especially with God.  We did not understand why He would do this to an innocent child.  We begged Him to do something terrible to us instead!  We were not going to church and were really confused about our faith.  

Frustration with Misdiagnosis

July 30th: Chase was finally seen by Sanford’s new Pediatric Neurologist, who diagnosed Chase with myoclonic epilepsy, because the seizures moved only one part of his body- his head.  I was glad to have such a firm diagnosis and we were told his brain activity was going back to normal in between seizures, so we could feel good at least about that. The eye watering still did not make sense to him and he thought this was a separate issue, but would do more research.  We just knew it was ONLY when Chase had these seizures and had to be related.  The dose of Keppra was doubled and we were sent home with a scheduled follow-up appointment 3 months later in October.  The increased medication had no effect in the coming weeks.  

Chase at the lake August 2013

By this time, Chase had seen 2 different chiropractors, had started Vitamin B which is supposed to help seizures, and special vitamin food supplements.  We bought the most expensive formulas because we were afraid he was reacting to something in the formula or food he was ingesting.  He had energy work done by a therapist who does intuitive healing.  We rubbed DoTerra frankincense oil on the bottoms of his feet and neck before he slept every night.  We were trying everything we had heard of could possibly work to stop the seizures.  We even considered not using cell phones or WiFi in our home in case that was doing something to his brain.  

For some time now, even though Chase could take a few steps he was always staying within just a few feet of us. He was constantly falling down and getting injured.  As the weeks went on, he started to move around more. This was really frustrating to me because people who saw him for short periods of time thought he was fine because he could walk, and just didn't understand why we were so concerned. However he really just darted around aimlessly and continued not to progress in all of the other skills. He would be transfixed by patterns and just stare at certain colors, patterns or lights, to the point where I would bring him to the grocery and people would comment on it. He was not interested in much- he did not pick up toys at home, he didn't even notice our cat (which shocked us after our daughter chasing and infatuated with animals at this age!)  We did not have to put anything away because he didn't get into anything like a normal boy of this age. He was taking about 4 naps a day at daycare and a few at night, so basically he was sleeping A LOT.  I also think being around it every day, we got used to it and didn't realize how bad it was getting.

We kept all of our fun summer plans and took Chase along, but we were doing this to distract ourselves from the reality of what was going on. We were just hoping this would stop on its own (as EVERYONE we knew kept telling us would happen because they knew a child with seizures and they grew out of them), but that didn't look like that was going to happen anytime soon. Frustrated, I decided to send Chase’s medical records and symptoms in to the Mayo Clinic in Rochester, Minnesota.  When I called they said they would contact us to let us know IF they could help us.  However, within 2 days I received a call that Chase was scheduled for 5-7 days of tests and appointments the following week.  We were shocked at their extensiveness and urgency of our visit, but knew we had to drop everything and go.