Support Mason's Fight Against Doose Syndrome

It has taken weeks for me to put in words Mason’s journey without being overcome by emotions. For anyone who knows us, asking for help is the last thing we consider. However, we have reached the point where we are asking for some help. We are fortunate to have good insurance coverage through our employers and for that we are lucky to not be up against a financial barrier. We know that not everyone who goes through something like this is in such a position. We do know that some of the cost won’t be covered, and we will have trips to see specialists in the future. Megan has recently quit her job, putting her career on pause, to stay at home with Mason and Owen, as Mason is no longer able to stay in daycare for his safety. Due to this change, we do not know how long we are going to be able to keep this financial battle going in our current situation. We have an incredible supportive community, and we are so appreciative of the support that we have already received from family and friends. People give in lots of different ways. Thank you for all of the many offers of support!

For those of you reading this who have not had the pleasure of meeting Mason, here is a little insight to this amazing kid. Mason is three years old, born and raised in Steamboat Springs, Colorado and his personality absolutely reflects that. From the moment he wakes up (against his will by his younger brother, Owen), he jumps out of bed with his undies, throws on one of many pairs of boots, grabs the “helmet of the day”, and is ready to head outside no matter what the weather is like. The energy, joy, and laughter he radiates is like no other. He takes his big brother roll seriously, constantly concerned about what Owen is doing, especially when he is starting to wake up. He continues to surprise us with just how sweet, caring and fun he is.

Just a little under a year ago, August 2023, Mason experienced his first seizure while on our way to go for a hike, going completely limp on the stairs in front of our house. As parents, we thought it was a bit odd without really knowing what really going on. Little did we know his life was going to drastically change. Later that night, Mason had his first “typical” seizure (generalized tonic clonic – GTC coming back from dinner and that is when it all started to go downhill quickly. Over the next few weeks, his seizures which consist of five different types, started to ramp up relatively quicky. Within a month or so, and multiple trips back and forth to Denver Childrens Hospital, Mason was diagnosed with Doose Syndrome. (Myoclonic atonic epilepsy (MAE), typically known as Doose syndrome, is an uncommon childhood epilepsy syndrome that accounts for 1 to 2 out of 100 (1 to 2%) of all childhood-onset epilepsies. Usually the first seizure occurs between 2 and 6 years of age. Boys tend to be affected more than girls (two thirds to three quarters of children with MAE will be boys). More than half of children start with a generalized tonic-clonic seizure with or without fever. Within days to months, drop seizures begin. Many children also develop myoclonic jerks and absence seizures, and some may develop tonic seizures. Most children with MAE are developing normally when seizures begin.) It was a feeling that we have never felt before, not wanting to believe what was happening or what was to come for him. Our hope now was to start anti-seizure medications with hopes of controlling the seizures, with the ultimate goal of potentially growing out of it (50% chance). That hope quickly faded. Mason was flow out of Steamboat down to Denver twice in two weeks for uncontrollable seizures, requiring forced oxygen, and constant EEG monitoring. He was experiencing 130+ seizures, of various types, within an average 30-minute period. This took a significant toll on his mental and physical state, not talking or eating for those two weeks. Soon after, Mason’s epilepsy was then diagnosed as refractory epilepsy, which means his condition is medication resistant. Another hit to our hopes of something working. At this point Mason was put on the fast-track for trying different medications and a high ratio ketogenic diet, a common medication for Doose epilepsy patients.

Over the months, Mason was trialing a slew of medications, weening on and off due to ineffectiveness, negative side effects, or limiting the amount he could be on at once. This was extremely challenging and a mentally taxing time. When we were seeing positive signs of the medication working, with little to no seizures for about a week or so, he would quickly backtrack time and time again by getting sick (as all little ones do), reducing his seizure threshold, making him weak, lethargic, unable to speak, amongst other side effects. In addition, anti-seizure medications are typically very difficult to ween off of, sometimes taking months due to withdraws, lowering his thresholds, causing more seizures. The realization of going a surgical route became more apparent and discussions started with his Neurologist. This was difficult for us to digest that we were at this point where surgery was his next option. VNS, DBS, and corpus callosotomy were all on the table as possible options. His neurologist team met multiple times to discuss which option would have the best chances to reduce the seizure and provide him with the best quality of life. Ultimately our decision, scheduling the corpus callosotomy for August 30th, as it was unanimously chosen by the surgical board and providing him with the best chances for a better quality of life.

Fast forward two more months of 100+ seizures a day and multiple ED visits, Mason was admitted once again on July 9th. It was determined that he would have an emergency corpus callosotomy (separation of the left and right that hemispheres via open brain surgery). He is currently two days post-surgery, still extremely tired from the seven-hour surgery and various medications. Mason has an eight-inch incision on the top of his head that looks better than expected. He is expected to have significant weakness on the left side of his body due to the process of which they maneuver the brain to be able to access the corpus callosum. Mason has been alert at times even saying a few words. The various teams on his case say we will be on our way home anywhere from four days to four weeks. It will be a long journey to get him back to where he was, requiring PT, OT, and speech daily. We will keep you up to date as he progresses.

This has been the most challenging for both Megan and I. The anxiety we have every time we hear something hit the floor, thinking Mason had another seizure is unfathomable. As parents, we are supposed to be able to fix everything for him, but can’t, and it is the most heartbreaking feeling you can imagine. The number of times we hear, “it can be worse” is true in some sense, however, watching our son being slowly taken from us is the most difficult thing to go through, unable to anything but hope for something to change. We just want him to have fun again and will keep doing everything in our power to move in that direction.

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