Connor was born on May 3, 2013, a happy healthy bundle of joy and the perfect addition to our family. He instantly blessed the lives of everyone around him. He adored his big brother Jake who was 8 yrs. old at the time and his dogs Luca and Chewy. Connor was thriving in every way and met or exceeded all of his toddler milestones. He was always the life of the party and our social butterfly. He had the type of personality that everyone gravitated toward; kind beyond measure, empathetic, compassionate, adventurous, strong, determined, funny, and fearless. He loved animals, music, movies, playing outside, picnics, make-believe, story time, bath time, and most importantly…food! Oh how that boy loved to eat! He wore his Superman costume everywhere and loved all things Halloween, especially pumpkins. He had one of those blue Cozy Coupe cars and a ride-on dinosaur toy that he “drove” all around the house and outside. Like most boys, he liked playing with trucks, cars, trains, building forts, playing in the dirt, and catching snakes. He had a little musical guitar that brought out the hard core rock star in him and he loved to shake his booty to all different types of music. CCR, Michael Jackson, Bruno Mars, and Bob Marley were just a few of his favs. He enjoyed learning and doing preschool activities at home. There was nothing out of the ordinary.
Then in March of 2017, just a few months before his 4th birthday, something happened. Connor was sitting at the dinner table the same way he always did and he fell out of his chair, hitting his head on the floor. We checked him over and he was okay but it was strange. Over the next week, he had two more what appeared to be fainting spells. What really scared us is that we noticed he wasn’t putting his hands out to catch himself as he was falling. It was like someone had unplugged a cord from the wall. All of the sudden, there was no power, lights off. A few seconds later, he was coherent again but confused and scared. We took him to the doctor and explained what happened and right there, in front of two Pediatricians, his entire body started to shake. They said he was having a seizure. Through our description, they were able to determine that he was having “drop” seizures. While we were there, they called Neurology and told us that Connor had Doose Syndrome, a specific type of childhood epilepsy and that we needed to go to Children’s Hospital in Denver as soon as possible and start giving him anti-seizure meds right away. We asked how bad it was and they told us not to look it up on the internet because it would only worry us more. They said a lot of kids do really well with the meds and some outgrow it completely. We were in shock to say the least but hopeful.
A few days later, we went to Children’s Hospital where Connor had an EEG of his brain to look for seizure activity. The Neurologist confirmed that he had Doose Syndrome. However, because he had met all of his milestones and was healthy overall, he was confident saying that Connor had a 70% chance of outgrowing the seizure syndrome completely within the next few years and would likely go on to have a normal life as if nothing had happened. He said he couldn’t promise that would happen but everything pointed to a positive prognosis. We breathed a sigh of relief, feeling as though we could get through this, no problem. We knew we would have to change several things in the house to make it safer for Connor and watch him closer but we remained positive. At first, the seizure meds worked great, but as time went by, Connor was just “different”, not himself; more clumsy, hungry all the time, moody, would not listen, and had a hard time sleeping. Every time we called the doctor, they said it was just the meds and they see this all the time. Our intuition told us something else was wrong but we didn’t know what. Over the next several months, we felt like we were losing our little boy to epilepsy.
We were quickly outgrowing our first house and the tri-level layout was not safe enough for Connor. We looked for houses all over Colorado and were sad when we realized we couldn’t afford to move. It was a great time to sell our house but not to buy. We started looking at nearby states as options with the goal in mind of me being able to stay home with Connor until he was ready for kindergarten. A huge leap of faith and God’s perfect planning led us to Idaho. We did a ton of research and knew there was a Children’s Specialty Neurology Center in Boise. We found our dream home in a small town within walking distance of an elementary school for Connor. The only problem was that most of our family was in Colorado. We were ready for a change and thought that a less stressful life with less going on all the time would give Connor the best chance to get better. We moved to our new house on Nov. 1, 2017. I have this beautiful, vivid memory of Connor putting the special star on the Christmas tree while Tom was holding him so he could reach. Christmas felt different. There was a sadness around that’s difficult to put into words. I tried to convince myself that it was because we were away from family but I knew better. Connor was sick and it wasn’t just epilepsy.
After several failed attempts to get in to see a neurologist, I made an appointment with an amazing pediatrician at St. Luke’s. I’m sure the laundry list of concerns we had at that first appointment sounded at least somewhat crazy to him. The important thing is that he took the time to really listen and we will always be grateful for that. He felt like Connor was showing signs of “truncal ataxia” or some sort of cerebellar issue. The first thing I did when we got home was research the terms he described and what can possibly cause them. It was not looking good. The words “brain atrophy” jumped out at me and my heart sank. That led me into the realm of rare disease research and I looked through hundreds of rare disease descriptions, compared them to Connor’s symptoms and began ruling them out or putting them in the “maybe” category as I went along. When reading about Batten Disease, specifically CLN2, I was convinced that someone had written an article about my child. This was his life I was reading about. I started to realize that my fear of Connor not going to school when we had planned was the least of my worries. My child was dying… In that moment, I prayed that he would not have a disease that could not be cured or treated and my second prayer was if he does, please God, don’t let my baby suffer. Connor’s health was declining quickly and we were terrified. He wasn’t talking nearly as much, was saying partial words at times, was unsteady on his feet and was bumping into walls and countertops. He could only say a few letters of the ABC song, something he did with ease months earlier.
The pediatrician made a plan and started sending out referrals to specialists right away. An MRI was scheduled and almost got cancelled but we begged and pleaded with the neurologist for it to be done. We were told that the MRI would be normal because in Doose Syndrome, they always are. We were not convinced and wanted it done because he had never had a baseline MRI to begin with and Connor was getting worse quickly with no obvious explanation as to why. Shortly after Christmas, we got a call about the MRI. The doctor told us that Connor’s entire brain was smaller than normal for his age and that his cerebellum was significantly smaller than normal. She called us in to see the MRI and it was obvious to us that something was very wrong. She wanted us to do genetic testing and we quickly agreed. We voiced our concerns about certain diseases and she said they would be doing a full epilepsy panel. It was hard to get the words out, but something told me to ask to test for Batten Disease. It wasn’t included with the regular epilepsy panel but they added it due to concerns of it being progressive and also suspected vision problems. When we got home, I started researching about cases where Doose Syndrome was misdiagnosed. It’s rare too so there isn’t much information about it but I stumbled across an article where a little girl who was a little older than Connor was diagnosed with Doose Syndrome and it turned out to be Batten Disease. Everything was pointing to our biggest fear.
For the next several weeks, we waited for the dreaded news I already knew in my heart. I had a vivid dream one week before we got the results showing it was Batten Disease. I have never wanted to be more wrong about something in my entire life. The neurologist delivered the horrible news with tears in her eyes. Genetic testing confirmed Connor had Batten Disease but it was CLN1. I already knew the rest. It’s terminal. There is currently no treatment or cure. He will likely not live past 8 to 10 years old. She encouraged us to take a special family vacation sooner rather than later. Thanks to our doctors and Make-A-Wish Idaho, Connor was granted a Make-A-Wish trip to San Diego and it was absolutely amazing!!! He was seizure free the entire time; such a blessing! He got to fly in an airplane for the fist time. At the end of the flight, he got to meet the pilot and sit in the captain’s chair. So cool! We stayed in a fancy suite with a gorgeous view of Mission Bay. Connor loved spending time on the balcony in the sun, listening to the sea lions in the bay. Day 1: We had a blast at Urban Jungle Fun Park in Santee! Day 2: We did a fun photo shoot! I’m usually behind the camera so it was extra special to have someone else capture memories of this unforgettable trip! Later that day, we went on a private sunset boat tour of Mission Bay. Connor loved the big waves, the wind in his face, and talking to the sea lions! Day 3: Fun-filled day at Sea World with a private dolphin encounter. Connor loved meeting dolphins Maggie and Grace. The huge smile on his face was priceless! He was also in total awe of the orcas and kept saying “whale”! That night, we watched a stunning sunset at Mission Bay Beach. Connor’s wish of seeing the ocean and getting his toes in the sand came true! We walked to Belmont Amusement Park where Jake and Tom enjoyed the crazy rides. Connor’s favorite ride ever: Bumper Cars! We have never seen him laugh so hard!!! Day 4: VIP tour of the San Diego Zoo. We met Debbie the elephant for a rare behind the scenes experience where we fed her lettuce, watched her do tricks, and touched her trunk. Connor’s favorite part was dancing with Debbie! She blew him kisses through her trunk which made him smile. Then, we got to see a special shark feeding and met/fed giraffes behind the scenes. Later that day, we went to La Jolla Shores beach and watched another beautiful sunset. So many special memories to cherish forever!
Within a few weeks after we got home, Connor was almost totally blind, his vocabulary was down to only a few words, and he quickly lost his ability to walk, jump, and stand without help. He was losing weight and looked visibly sickly. The soft food diet he was on was not enough and he had a hard time keeping his meds down. He was having trouble swallowing so they sent us in for a swallow study which confirmed our fears. He aspirated one of the foods they gave him so we had to put him on a thickened liquids/pureed diet. At first it went okay but he got tired of it quickly. Multiple doctors encouraged us to do the G-Tube surgery before he would actually need it so we could be prepared instead of it becoming an emergency. We agreed and in March 2018, Connor had G-Tube surgery. Connor was jumping on the hospital bed the next day and he healed quickly. It didn’t take long at all to see improvement in his overall health. We had planned on continuing to feed Connor by mouth for as long as possible and just give him his meds through the tube but it didn’t work out that way. He would only take a little of his favorite foods by mouth which consisted of warm mashed potatoes, peanut butter, or melted Reese’s Peanut Butter Cups. Soon, he took his last bite of food. It’s as if his body was warning him that he could choke if he had any food in his mouth because he started to turn away and refuse food by mouth. To say it was heartbreaking is an understatement. His favorite thing to do was eat and enjoy food and now that was gone too.
The last year has been an emotional roller coaster for our family. We are truly blessed to have an amazing support group of family and friends. We have the absolute best team of doctors and care coordinators we could ever ask for at St. Luke’s. Our focus has always been and remains on Connor’s quality of life. We are thankful for each day we have together and we cherish every moment. Some days are better than others. To be honest, some days are excruciatingly difficult to get through but we get up and we get through it together. What a gift it is to be loved by Connor. He never stops fighting and we will never stop fighting for him and a cure. We love you Connor forever and always!