Tuesday, March 16, 2010

Cole's Story

Cole was six months old and had just been diagnosed with an ear infection earlier that day at his pediatrician's office. I brought him home, gave the first dose of antibiotics and settled into our routine of comfort. Rocking. I swear I spent eight months in that glider! He had finally fallen asleep after being exhausted from staying up the previous night in pain. I was exhausted too. Brian had just gotten home from work and had run out to the store to grab something. I felt Cole's right arm stiffen and then it started to twitch, then his whole right side. Immediately I got scared and knew what was happening, having had seizures for my entire life and working in a hospital for my profession. My son was having a grand mal (tonic clonic) seizure! I looked at the clock, laid him on his side and frantically called 911. I was so glad that the ambulance was just minutes away from our home, totally the opposite of what my parents had to go through whenever I was seizing. The nearest adequate hospital was 45 minutes away from our rural farm. I even vented to the poor operator, "I have no idea how my parents did this!" She told me that I was being extremely calm and I mentioned my profession as a medical social worker on a high-risk long-term unit. I saw this kind of thing all of the time at work, but this was my baby.

Brian came home while I was on the phone and waiting for the ambulance to arrive. He had only experienced his first seizure 6 months previously, 3 minutes after our son was born. He had no idea what to do, so I just handed him the phone and coached him through the few minutes until the paramedics arrived. By this time, Cole's entire body was involved. The men stormed our tiny living room that was full of furniture and baby paraphernalia. They administered this great drug, Intranasal Versed, my parents did not have anything like it and now we use it all of the time! Cole's seizure stopped 13 minutes after it started and right before we got to Primary Children's Hospital. This begins Cole's story. We got the usual first seizure talk at the Emergency Room. "Lots of kids have seizures. Just because he has had this one, doesn't mean he'll have another. His fever just must have spiked with the ear infection. Blah, blah, blah." Cole came out of his post-ictal state, we set a follow-up appointment and they sent us home. We reassured my parents, who were miraculously coming through town, to just continue on home. I was terrified. So many things were running through my mind, in the forefront..."I did this. It's my fault".

I have no family history of seizures and all of my tests have normal results. I was assured that my epilepsy was not genetic, so I was not worried about having children with seizures. I was reassured over and over that this was just a fluke thing and that he would be fine. Brian and I were really concerned about leaving in a couple of weeks on a vacation that had been planned for a year. What if Cole had another seizure? My caring and understanding extended family, reassured me that even if he did, they had seen plenty of my seizures and could take care of him. They told us to continue with our plans. They would (and did) take excellent care of my little boy. He finished his round of anti-biotics and by the time we had returned home from our vacation we had convinced ourselves that it was a febrile seizure, just like the ones many other small children randomly had with high fevers.

I had scheduled Cole's six month well check and immunizations for a couple of days after we returned from our vacation. August 6, 2008 I took him in as a happy, healthy little boy. He had his shots, continued to be off the charts for height and we went home. My husband came home from work and my brother-in-law came over for dinner. We were sitting in the living room afterwards and my BIL was holding Cole. He said, "What's wrong with your arm?" to Cole and then tried to move it. It was stiff and started to jerk. We gathered everything and got to the hospital in record time. I am so glad we lived close to Primary. Cole stopped seizing in the ER and we started to talk to the doctors about epilepsy. They ordered a spinal tap, MRI, CT and a bunch of blood work that was not ordered on our previous visit. My parents were surprisingly, in town again. My poor mother had to leave the room when they did the spinal tap as I am sure a whole lot of suppressed memories came rising up. We all thought we were in a nightmare.

After the MRI, we went back into the trauma room and Cole started seizing again. The doctors could not get him to stop. They gave him Ativan, a loading dose of Phenobarbitol, Fentanyl and started a prophopol drip. At this point they had to intubate him and eventually put him on a ventilator. I was calm on the outside, because I knew what was going on. I had been in these situations before with patients. Never my own flesh and blood. I explained what I could to Brian, everything was going so fast. When they decided to intubate that is when I really started to freak out inside. I worked with patients on ventilators. I had never had a seizure so bad that I had to be on one. Plus, his heart was still racing after all of those heavy drugs. In the end, they told me his seizure lasted for approximately 2 hours.

Our entire family was traumatized, as everyone would be. We spent a week in the hospital. 4 days on the ventilator in the PICU and the rest on the neuro floor. All of his test results came back normal, just like me. We came home on Phenobarb. Cole did not have any more seizures until February.

Cole now has four different types of seizures that we know of. Drop seizures (atonic), Grand Mal (tonic-clonic), complex partial and absence seizures.As the year 2009 went on, Cole had tonic clonics with and without fevers. He also started to have some partial seizures where he would just tremble on one side. Summer came and we noticed that he was rolling his eyes and his head would drop every so often. It was happening more and more and the neurologist told us they were seizures. Cole had participated in a few EEGs by now and all of them had come back normal and inconclusive. We just were told to watch him and report any changes. These seizures where his head just falls forward for a second are called, absence seizures...because he is absent for a moment. Cole had another EEG in September 2009 and it finally showed some abnormalities. It was concluded that he has over 100 absence seizures a day, even in his sleep. We decided to take him off of phenobarbitol because of the side affects and started Keppra in September.

Cole started having drop seizures in the summer of 2009, where he will just pass out and drop. They happened occasionally at first. The drop seizures have progressed to the point that he has an average of 30 a day and he has to wear a helmet.Cole is now an active two year-old. His fine and gross motor skills are almost a year delayed. His speech has been more delayed, but is progressing. At the beginning of 2010, he could barely speak. He is now forming sentences. We are hoping that the ketogenic diet will at least decrease his drop and absence seizures. It would be wonderful if they could stop completely.

UPDATE: August 2010
Cole has been on the ketogenic diet since June. His drop seizures have practically disappeared. He no longer has to wear his helmet, which is wonderful! His absence seizures have also decreased. However, he still has all 5 types of seizures at this time. The myoclonics and absence during the night have increased since the initiation of the diet. He continues to have complex partial seizures and has had more frequent tonic-clonics, though they have drastically been reduced in minutes. The average length for tonic-clonics before the diet was 20 to 30 minutes, sometimes longer. He has not had one over 5 minutes long since the initiation of the diet.

Cole has been diagnosed with Dravet Syndrome, which is a rare form of epilepsy. There is a 1 in 40,000 chance of having Dravet, and only around 1,000 cases are reported in the world. There are probably more that are not officially diagnosed. Dravet is a regressive disorder, which means Cole will get worse as he gets older and possibly lose skills that he has now. At this time, it is likely that he will be dependent on his parents, for the rest of his life. He has a mutation on his SCN1A gene and other features of the disorder. You can learn more about Dravet here.

He also has other symptoms that have not been categorized into a diagnosis. We are seeking out specialists at this time to try and get him all of the help that we can.

At this time, Cole is still on the ketogenic diet. His drop seizures have gone into hiding, unless he is outside. He now has 6 or 7 types of seizures that we can categorize. His seizures have become more frequent, though they do not last as long. We have been very pro-active with the rescue medication and give it almost immediately now, resulting in controlling most seizures within 10 minutes. He is still sensitive to light and temperature and a lot of other things that are typical to Dravet Syndrome. We are hoping to get a service dog for Cole to help him become more independent.

Cole continues to have 7 different types of seizures: tonic-clonic, absence, atonic, myoclonic, atypical absence, tonic and complex partial. He still has hundreds of seizures a day, most of them are very short. He was on the ketogenic diet for over a year and has since been weaned off due to complications. The diet helped to control his atonic drop seizures and he still does not wear his helmet at this time. Cole has been progressing with his speech and language, but continues to remain delayed in some areas. He will be starting special needs pre-school in Sept 2011. Cole shows many signs of dysautonomia, something that is common with kids who have Dravet. He is sensitive to light and temperature, has a rapid heart rate and bouts of excessive thirst. He is also sensitive to patterns, noise and overstimulation including getting excited or angry. He had a g-tube to help with medication and for the times that he stops eating completely or is dehydrated. At this time, he sees specialists at Miami Childrens Hospital Brain Institute every six months. Overall, he is a happy boy who enjoys his version of life since he does not recognize that he is different. Cole will be receiving a special multipurpose service dog in October 2011, who will hopefully become his best friend.

Dravet has shown us that we can find our groove, only to have it change in an instant.  So we are constantly trying to adjust, tweak and make decisions that will lead to a better quality of life for Cole.  He is still having all of the same seizure types, with different presentations.  Every day changes.  What was normal a couple of weeks ago is not normal for today.  Cole remains a strong, happy warrior.  Even though his body is racked with seizures and his brain just can't catch a break, he surprises us daily.  We have learned to never say never when it comes to Mini-Hulk!  In the last few months since updating, he has become potty trained, has learned to ride a bike (with training wheels) and has traveled for long periods in the car!  His new buddy Slugger, who joined our family in October 2011, has changed our lives dramatically.  We are so thankful to 4 Paws For Ability for putting all of the time and effort into each one of the dogs that graduates from their facility.  Cole continues to see the team at the Brain Institute at Miami Childrens Hospital in Florida.  He really enjoys going to school when he can and his favorite part is riding the bus.  At this time, we are doing all that we can to ensure quality of life over quantity.  As we watch the little boy that we know and love slowly slip away, we have hope and faith that he will regain his skills but cherish every moment that he is with us.  We are so thankful that we have the chance to be his parents and learn from his strength and resilience.

Cole is still constantly changing.  He loves to confuse doctors and his parents.  He is the definition of resilience.  Overall he has no idea that he is different and proves to us each and every day that you can be happy and laugh even through the darkest struggles.  He has so many restrictions in life, but he shows us how to be happy and how to celebrate the big things and cherish the little things.  His best buddy Slugger is still proving that he is worth his weight in gold every day.  He is so important to our little guy and is the first thing he asks about when he wakes up and the last thing he talks about before they fall asleep together.  Cole continues to see many specialists and doctors and we are going to Miami Childrens Hospital on average every 4 months.  His seizures are to the pointe where he is having around 2 or 3 major tonic-clonics every day and around 8 or 9 major nocturnal frontal lobe seizures every night.  He still has hundreds of myoclonics a day.  He has made a lot of progress in school and will be going to a special education kindergarten class in the fall with his nurse and Slugger by his side.  We are so thankful for our wonderful school.  It has totally been worth the move across the country to get him what he needs.

*If you want to contribute to Cole large medical debt, you can contact us by e-mail or use the PayPal button on the sidebar of our website.*


  1. Niki and Brian. Please keep your chin up. You guys have to be brave and everything will work out. Be peaceful.

    Neal Jeppson

  2. What a beautiful little guy!! He is lucky to have you for his parents. I am glad he is getting a bit of relief with his diet.

  3. Niki, our prayers are with you and your family! He definitely is so lucky to have such loving parents! Take care.

  4. thank you for being brave enough to share so openly about your situation. Our daughter was diagnosed last year with Dravet's. We appreciate hearing the stories of others going through similar circumstances.

  5. I don't know you but I am friends with some one who wrote about you on her blog and her son has epilepsy. I admire your strength and all you are doing for you son. What a wonderful example you are.

  6. I found your blog while researching tips for bringing service dogs to Disney World. Our son is autistic, but a lot of what you talk about hits home (ever changing, gaining and losing skills, probably being dependant on his parents for the rest of his life, but also the happiness, the love and the surprises).
    Good luck in your journey! You can read about ours here: http://cedriconedayatatime.blogspot.ca/
    Marie-France, autism warrior mom ;)


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