Chase's First Treatment of Infantile Spams- Sabril

August 31, 2013: Chase had been up to 3 to 8 clusters of spasms each day, usually 3-12 spams in each cluster.  The first week on Sabril (Vigabatrim) was promising - they went down to 1 or 2 clusters a day.  However, they didn't stop and around his first birthday on September 7th they progressively increased.  That was a somber celebration for Tom and I, as we were trying to put on happy faces for family and friends during Chase’s birthday celebration but knowing things were going downhill very quickly.  He was starting to fall over and hit his head all of the time, so we had to set up a safe blocked-in area in the living room and we were worried about sending him to school.  During the second week, he suddenly took a turn for the worse. The clusters started having up to 30 spasms and the last few days before getting back to Mayo for the follow-up EEG, Chase was basically either sleeping or having seizures. When he was awake he would just walked in circles or bury his head in blankets on the floor. His sister Anna would constantly yell out to us “Chase is doing that THING with his head again!” Again, we were getting so used to it, we did not notice how bad it was really getting.

Chase's First Birthday

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.  

Abnormal EEG Results

July 5th: Chase had the MRI done under anesthesia, and this came back completely normal.  The pediatrician who ordered it seemed to report it with an “I told you so” attitude.  But I knew they would find something on the EEG test which was done the following week on July 10th and the days of waiting for the results seemed to take forever, as Chase continued to regress.  The test was being sent to the Minnesota Epilepsy Group in Minneapolis to be read, and I was not hearing from the pediatrician who was supposed to relay the results.  I called to find out the status but of course the doctor was out on vacation that week . I begged the nurse to have another doctor look at the report and call me back since it had been a full week and Chase was not doing well at all and he even looked just ill. Later that day, we received the call that would send us into a panic.  

Video of Chase's Infantile Spasms in July

Although Chase did not have a seizure during the 2-hour EEG, the test results were very abnormal, showing he had just had or was about to have a seizure.  Only then did he get moved up on the list to see the Neurologist, but it would still be a few weeks.  The doctor that called me back (now the ONLY pediatrician Chase sees) understood my frustrations as a mother herself, and she quickly worked with the Neurology department to get Chase started on a medication in the meantime, Keppra.  She was the first person to show any compassion and take action.  Chase started on a very low dose, and we were very excited at first when after a few days he seemed to snap out of his fog and started moving again- even pulling himself up and a few weeks later taking his first steps.  However, the seizures and vomiting did not stop, and Chase continued to be developmentally stagnant in the communication, social/emotional and fine motor skills.  He still would not even eat baby food at almost 11 months.  

Chase's first EEG at 10 months

Videos of 9 month old baby Chase with Infantile Spasms

First Signs of Regression of Development

June 30, 2013. I was in the process of switching pediatricians to another healthcare system completely, out of frustration after reporting these symptoms to no avail, when we witnessed what really appeared to be a seizure.  Chase woke up in the middle of the night screaming like we had never heard him do before.  Tom and I both ran into his room, Tom picked him up and he projectile vomited.  After that, he had several of these head drops, but then started convulsing or shaking for a good 10 minutes.  We went to the emergency room that morning and the ER doctor (who just told us how healthy Chase looked and didn't seem to care about anyone unless they were near death) said “Yep, this probably is a seizure”, as Chase had more of the head drops right in front of him.  He told us we should order the normal seizure workup of MRI and EEG tests, but no one could help us because it was the weekend and these were scheduled tests.  We happened to have an appointment with a new pediatrician the next day on Monday, so he told us to have that doctor order the tests.  The episodes continued to happen throughout that day, more than they ever had.  

At the appointment the next day, the new pediatrician told us this probably was not a seizure but a nodding disorder that Chase would grow out of, and a separate tear duct issue.  We almost had to convince him to order the tests anyway and obviously we were not impressed with the treatment we received or lack of urgency.  There was one practicing Pediatric Neurologist in Fargo at that time, and we could not get in for an appointment for 7 months (!!!) to see her because Chase was not diagnosed with seizures yet.  A new Pediatric Neurologist would be starting in a few weeks and we were told that maybe we could get in to him sooner.  Slowly we were worked through the Sanford hospital system the next couple of weeks.  Tom and I were panicking, as Chase’s development began regress.  He stopped crawling, eating solid foods, and was very lethargic, lying around in a daze.  We knew this was just not right and things were going really badly, and we felt like no one would help us.

On Father's Day- June 2013

Something Is Wrong with My Healthy Baby

Big Sister Anna meeting Chase

Our son, Chase Thomas Enright was born on September 7, 2012, a completely healthy little boy. We had some struggles the first several months of Chase’s life - projectile vomiting (all of the time!), recurring ear infections, and difficulty starting with solid foods-  but overall he was just the sweetest, most laid back little guy even through it all.  I was always worried about him though- he slept way too much and was just too quiet. I was always taking him to the doctor saying something just was not right, but they always sent me home feeling silly.  Tom, my husband, did start sharing the concern that he was extremely quiet though, but we blamed that on his ears being full of fluid or him being the second child with an older sister that never stopped talking. He was just sick ALL of the time.

At around 5 months of age, we noticed Chase’s eyes would well up and huge crocodile tears would fall down his cheeks upon waking up- but he was not crying.  He had still been projectile vomiting every few days but we had gotten used to that and attributed that to ear infections and feeling ill, although that did not really make sense to doctors.  I expressed concern to the pediatrician again at his 6 month well check, but was told this could be a tear duct issue and it would be revisited at the next appointment.  He was still falling asleep wherever he was, whatever he was doing. But it was also cute and we made many jokes about it.  

At around 6-7 months of age when Chase could sit up on his own, the daycare would report that he kept slamming his head down to the ground (always to one side) repeatedly at times.  He had 4 ear infections in a row during the previous few months, so we blamed it on dizziness from inner ear problems.  Around 8-9 months, the daycare reported unusual head dropping episodes during the day, which took us almost 2 weeks to see at home.  At first I thought Chase was ramming his head into me when I held him, but then realized he was having those head drops they had explained.  I had never seen anything like it.  Tom thought when it happened it looked like he had just been punched in the stomach.  These episodes would happen mostly after he woke up in the morning or from naps, accompanied by his eyes kind of scrunching and tearing up and he would get very panicky and cry as if in pain.  He seemed to be conscious but his eyes would dart around and afterwards he would fall asleep exhausted.  They would happen in clusters- sometimes only 2 or 3 in a row, sometimes up to 12.  After this happened a few weeks the daycare said “it is almost as if he is going to have a seizure.”  This was the first time it occurred to us but of course we wanted to deny it.  My mother has epilepsy – and the seizures are nothing like this.