In this post, I want to take you on a journey through my life as a married woman with three children, two older girls and a boy, focusing on the period before and after my son’s Kleefstra syndrome diagnosis, the unexpected twists and turns of his health, specifically the onset of seizures, which reshaped our lives and brought forth new challenges and fears that we had never anticipated.

Life before the Kleefstra diagnosis was filled with moments of joy, laughter, and the everyday chaos of raising three children. We knew our son was developmentally delayed, and we made the decision to seek early intervention and committed ourselves to support his growth and progress. Speech therapy, occupational therapy, and physical therapy became a regular part of our lives as we celebrated his small victories and cherished every step of his development. He walked at two years old, knew sign language, spoke sentences at three years old, read at 4 years old, rode a two-wheel bike at 5 years old and also learned to scoot on his scooter. He was making great strides and we were so proud of him. All the work he was putting into his therapy sessions was paying off and my belief in him evolving into an independent capable young man with a bright future grew exponentially.

However, everything changed when our son had his first seizure. Were in the middle of COVID and he had just turned 6 years old a couple days before. We were having an ordinary day. I was making his lunch and I told him to use the bathroom then come to eat. Then all of a sudden, he yelled that he was dizzy. I told my oldest daughter to check on him. She then called me to come, that Sylas looked weird. I ran to him to see what was happening. By now he is sitting on the bathroom floor, saying he’s dizzy and he’s seeing a movie. His eyes were locked to the left and he wouldn’t look at me no matter how I asked him to. It’s as if his eyes were stuck. He then started to drool and became limp. I screamed for my husband. He ran out of his office and picked our son up. By now, I am about to lose my mind. My husband told me to call 911 and I did. It seemed like 911 took hours to get to our house. I was so scared. When they arrived, he was nonresponsive and drooling. They quickly put him on the gurney and injected him with medication. I had no idea what the medication was at the time. The lead EMT told me I could drive in the front of the ambulance, and my husband was in the back. I have never been so scared in my life. During the drive, I sobbed and found myself asking God to save my son’s life. This prayer later turned into me negotiating with God for his life, and quickly turning into anger at God for doing this to him. He didn’t deserve it. He has been working so hard for the last four to five years and making great progress, surely this can’t be the end.

We finally got to the hospital, and they rushed him into a room to administer a series of tests. All the while keeping him sedated. They conducted blood work, CT scans, an MRI, and an EEG. All the tests came back negative except for the EEG. It revealed that he was having focal seizures. I had no idea what this meant. I had never heard of this before. I only knew that seizures made you shake uncontrollably. This didn’t make sense to me because my son did not shake at all during the seizure. He complained of being dizzy and then losing consciousness. The doctor then explained what focal seizures were to me. And said that he recommends doing genetic testing to find the root cause of the seizures. This terrifying and bewildering experience thrusted us into a world of uncertainty. The genetic tests revealed a diagnosis of focal seizures caused by Kleefstra syndrome, which left us grappling with a newfound fear and a sense of helplessness. Suddenly, our daily routines were overshadowed by worries about when the next seizure might occur and how it would impact our son’s well-being.

The first year after the diagnosis was marked by a constant undercurrent of fear. Each day brought with it the apprehension of witnessing our son experiencing a seizure, despite being on medication. We were filled with anxiety about his safety, and even simple activities became laden with worry. Leaving him in the care of others, including friends and family, felt like an insurmountable challenge. The thought of sending him to school was met with a mix of fear and reluctance. He could have a seizure in class, or on the playground, and the teacher wouldn’t notice in time to give him his rescue medication. My mind was all over the place. I felt paralyzed with fear, but I knew I couldn’t stay in this mental space. I had to get proactive with this current reality.

Finding the right medication to effectively manage our son’s seizures became our top priority. Although he was initially prescribed Keppra, we experienced setbacks as he continued to have breakthrough seizures. The search for a solution became a relentless pursuit, involving consultations with medical professionals, research, and exploring alternative treatment options. We tried several medications that didn’t work. Then one day I decided to few this from a more holistic point of view. I started doing research into the connection between seizures and diet. This led me to trying a gluten free diet for my son. And for the first time, we went four months without a seizure! This is the longest he has ever gone without a seizure, and I was so happy. I would rather a seizure every four months, rather than weekly, or monthly. This outcome has now convinced me that my son needs to maintain a 100% gluten free diet if I want to reduce, and hopefully eliminate, the seizures.

While the fear and challenges persist for our family, life after the Kleefstra diagnosis has also brought resilience, strength, and a deeper appreciation for the present moment. We have learned to adapt, finding ways to create a safe environment for our son. Our family has become a tightly knit unit, offering unwavering support, and understanding. We have discovered the power of open communication, educating friends, family, and educators about Kleefstra syndrome and our son’s specific needs.

Although our journey continues, we have also found moments of hope and positivity. We have witnessed our son’s incredible strength and determination, as he continues to make progress despite the obstacles. Our focus now lies in cherishing every milestone, no matter how small, and celebrating the joy and uniqueness he brings to our lives. Life before and after the Kleefstra diagnosis has taught us the power of resilience, the depths of fear, and the transformative nature of love and support. While the challenges may seem insurmountable at times, we are determined to navigate this new path with courage and hope. Together, we can create a future where understanding, acceptance, and inclusivity become the pillars of our son’s journey and the journeys of countless others affected by Kleefstra syndrome.

Remember, in the face of adversity, we find strength we never knew we possessed. Let us continue to support one another and shed light on the realities of living with Kleefstra syndrome, ensuring that no family feels alone on this path.

With sincere hope and gratitude,

Shelly-Ann