Our story begins with Byron's first seizure at 17 months old. We were on vacation at a waterpark at the time. That morning, he wasn’t eating and he seemed tired and not himself. He fell asleep in my arms for a nap while inside the waterpark. My husband and my other sons were waiting in a line for a slide. I was alone with Byron and he started seizing while I was holding him. I ran to the first aid station while he was in my arms (I had no phone reception that could work inside the waterpark). The lifeguards took us in their room and then they shut the waterpark down temporarily. My husband and kids had no idea where Byron and I were because I was no longer sitting in the chair holding Byron and they felt something wasn't right. They soon found us in the medical room and then my other sons saw Byron on the floor having a seizure and they were so afraid and worried he was going to die. They were giving Byron oxygen. We waited for the ambulance which felt like an eternity. Finally the ambulance arrived at least 15 minutes into his seizure. Then we were transported to a nearby hospital. After being there, it was determined that he needed a more advanced hospital for evaluation and they called Children's Hospital of Wisconsin, so we took another ambulance over there.
Byron's first seizure was a febrile seizure which meant he had a temperature change from a fever and we were told he had an ear infection. We were told that it can be common in young kids if they spike a fever with an infection and it could just be a one-time thing. Unfortunately this was the start of more and that one time was out the door.
We started seeing a neurologist. He was put on anti-seizure meds. He continued having break-through seizures even with the medications and we kept adjusting doses to see if that would control his seizures from occurring. Nothing seemed to help stop the seizures despite the medications. Then we added yet another anti-seizure medication to help. Each medication had to be monitored closely for side effects and he needed blood work done frequently to check the therapeutic levels. These two medications still did not prevent his seizures.
Byron's seizures continued with nothing in particular that set them off. He had testing done with an MRI and a few EEG’s and every test came back “normal” including some epilepsy genetic panels that found nothing. That was extremely frustrating because he continued to have seizures which led to developmental regressions and after his first neuropsychological evaluation he was determined to be globally developmentally delayed.
Over time Byron's seizures started changing. Initially, he began with a febrile seizure. Then he had tonic clonic seizures followed by atonic seizures. Then he developed absence seizures. This process of trying to find answers and medications that work with Byron to control the seizures was daunting. Byron suffered from numerous seizures that went into status epilepticus (seizures that last longer than 5 minutes or when seizures occur close together and the person doesn’t recover consciousness between them like clusters). Based on my research at the time, I was concerned Byron had LGS (Lennox-Gastaut Syndrome). Finally after one of the overnight EEG’s, the results displayed the exact characteristics of LGS; the slow spike and wave complexes. With his multiple seizure types, the EEG results, and his developmental delays, his neurologist confirmed my suspicion, he was diagnosed with LGS. We later weaned him from the medications and started a new one.
So that explains the beginnings of his epilepsy syndrome he had. However that led to more questions, why does he have LGS? We went back to genetics and finally a reason was found. When the genetic testing results came back he was also diagnosed with “Developmental and Epileptic Encephalopathy 56” (DEE56). More specific to Byron within the classification of DEE56, he was determined to have a “de novo” genetic mutation in the gene YWHAG. This means that Byron did NOT inherit this disease.
Not only does Byron suffer from seizures, but he has a lot of health issues over the past four years. He’s had countless hospital visits, EEG’s, an MRI, a CT, and massive amounts of blood work. He has seen specialists in Neurology, Pulmonology, Dermatology, Otolaryngology, Asthma, Allergy, Immunology, Hematology, Rheumatology, Neuropsychology, and Genetics to help determine how we can help with Byron’s health issues. One thing that remains constant with Byron to this day is that he is frequently sick or has pains of unknown or unexplainable causes. Much of what happens to Byron and why he gets sick so frequently is unknown, but additionally he is unable to explain in detail his pain issues. He has temperature dysregulation, random body pains in his feet, tummy pains, flare ups with rashes, sleep troubles at times, high fevers that last briefly overnight and disappear the next day, and he has had many upper respiratory infections. It’s almost like clockwork how he gets a virus and then it turns into bacterial infections which require him to get frequent nasal cultures done every time in order to find the appropriate antibiotics course he needs for the next 20 days that specifically treat those bacteria.
We also take him to multiple therapists (Speech, Occupational, Food Therapy, and Applied Behavior Analysis therapy) to help with his delays/behaviors. He is constantly working and learning by these therapies to help him and keep him safe in the community. Despite all of his therapies, Byron’s cognitive abilities were not developing like the “typical-developing child”. Byron, who is currently 5 years old, is at a 2-2 ½ year old level. Byron was more recently diagnosed with Autism and Intellectual Disability which is why all of these therapies remain so important in his life.
With finding out the results, it has been frustrating because doctors and geneticists have very little knowledge regarding YWHAG to treat his conditions or even suggest recommendations. With Byron being only 1 of 24 known children worldwide to have this, there simply isn't adequate information for treatment, treatment options, or even the ability to make recommendations that could help with his future development and our expectations. So medically, the road to understand this, the causes, what the future looks like, and any research is unknown right now. This is our path forward as parents to help our children with this rare disease. We have the support of one another, but medically speaking research is lacking and we need to start somewhere.
Nothing down this road has been easy. From all of the doctors’ appointments, testing our small child, to learning to adapt as a family, and having periods of regressions are all challenging. Watching your small child go through getting blood work drawn constantly and being scared and in pain, to having electrodes put on their head multiple times and having to be sleep deprived, and having them fight taking medications three times daily that are beneficial to them is all very trying. Having your child go under anesthesia for testing is also very hard to watch them endure and then have trouble with oxygen at times. As a family, that brings its own challenges of juggling schedules with our other sons, explaining everything that happens with Byron so they too can try and understand, and also teach Byron’s siblings how to be with him. We also have the responsibility to make sure we are meeting the needs of our other sons too so they have time and attention from us as parents.
Then we’ve had other challenges with school in - finding the right school for him, having a plan implemented for his health issues, and detailing what his needs are. We had to go to through the local school board process to request that they update their medication policy and that required the school board’s attorney to be involved. Our goal was to make sure we had coverage for Byron should he have a status epilepticus seizure at school as to who would give him the rescue medication in case the school nurse was not there for off-site meetings, illness, or vacation. Every base needed to be covered in great detail because with Byron’s history of multiple status epilepticus seizures. He needed someone to be able to give him the rescue medication which could save his life. That process alone was nearly a year. Making sure we have everything updated for Byron’s needs in his IEP (Individualized Education Program - which is a written statement for a student with a disability. The IEP that is developed, reviewed, and revised by a team of people that outlines the educational plan for the student per the rules of the Department of Instruction in Wisconsin – has all of the appearances as a medically legal document detailing requirements for his health and safety as well as delineating his educational; goals and objectives to be followed. This takes a lot of time and effort and requires updates annually and often more frequent than that.
Basic living skills are delayed for Byron so everything is taking longer to learn. He struggles with trying new foods and eating them. He struggles saying words that he knows but what he actually means has been distorted and he gets frustrated trying to relay messages. His brain wants to say words but often those meanings are different which causes frustrations or he randomly talks but it has no relation to what the topic of conversation is. In general, his speech delays have been hard for people to understand him and we’re working on getting him to speak first in consecutive words or phrases and hope that he can to speaking in short sentences. He has periods of regression and those are especially sad because he has to work so hard to get back to baseline again.
Byron is a fun loving boy who loves to laugh with his brothers, sing, dance, and he really loves the water! He is our son, a brother, a grandson, a cousin, a nephew, and a friend who needs constant care-taking. He is our life. He is our family. He calls everyone a “friend” and he has the purest heart. He is amazing and wonderful the way God made him. That brings us here. Every step we take is doing what we think is right for Byron. Even though his gains may be at a slower pace, it's because of his therapies and constant hard work that he improves. It is through Byron we are learning to be better parents with more patience, tolerance, and understanding.
Many days there are tears and fears as parents. All we can do is love Byron with all of our heart and continue to help him in any way we can. He has a heart of gold. He deserves the hope that the YWHAG Foundation is pursuing and I strongly urge anyone to consider donating for the improvement and quality of life for Byron and the other children affected by this lifelong disease. Byron is a blessing to us all.
Written by: Sarah Dankert 06/01/2023