14Q32 deletions and duplications are rare genetic conditions involving changes to the long arm (“q arm”) of chromosome 14. A deletion means a small piece of genetic material is missing, while a duplication means there is an extra copy of part of the chromosome. In addition to 14Q32 conditions, many families also navigate other rare chromosomal anomalies, which can involve missing, extra, or rearranged genetic material across different chromosomes. Because these regions contain genes important for growth and development, individuals affected by 14Q32 changes and other rare chromosomal anomalies may experience a wide range of medical and developmental challenges. Symptoms and severity can vary greatly from person to person, even among individuals with similar genetic findings.

Children and adults with 14Q32 deletions, duplications, and other rare chromosomal anomalies may experience developmental delays, speech and learning difficulties, low muscle tone (hypotonia), growth differences, and unique physical characteristics. Some individuals may also face feeding difficulties, neurological concerns, or congenital conditions such as heart abnormalities. Seizures are reported in some individuals. Due to the rarity of these conditions, many families spend years searching for answers, resources, and others who understand their journey. Research on 14Q32 conditions and other rare chromosomal anomalies continues to grow, but awareness and support remain limited.

Our foundation aims to help change that. We are committed to raising awareness, supporting affected families, and building a connected community for those navigating life with 14Q32 deletions, duplications, and other rare chromosomal anomalies. Through education, advocacy, and family support initiatives, we hope to ensure that no family faces these rare diagnoses alone while helping advance understanding of these complex genetic conditions.

Kase was born on November 23, 2022. From the very beginning, his parents knew something felt different. Little signs slowly appeared over time — symptoms and developmental concerns that pointed toward something bigger. What they did not know yet was that Kase was living with a rare genetic disorder involving the 14q32 chromosome.

With rare disorders, many children experience different symptoms, and Kase’s journey would become one filled with challenges, uncertainty, perseverance, faith, and hope.

Early on, Kase faced multiple medical complications. He was born with laryngomalacia, a condition affecting his airway and breathing, which required throat surgery shortly after birth. Thankfully, the surgery was successful. He also had heart defects, PDA (Patent Ductus Arteriosus), a hole in his heart, and also a atrial septal defect. He showed additional physical characteristics associated with genetic disorders, including low-set ears and ocular pits near his ears.

Kase also was born with torticollis, where the neck muscles tighten and contribute to flattening on one side of the head. Therapy quickly became part of everyday life.

But despite all of this, Kase continued smiling.

For months, Tyler and Elsie searched for answers. They saw symptoms building slowly, but many doctors dismissed their concerns. Still, they kept fighting for their son. In the fall of 2023, around his first year of life, Kase was officially diagnosed with a rare 14q32 genetic disorder.

Then came March 25, 2024, the day Kase suffered his first seizure, with multiple seizures to follow.

After that first seizure, he spent nearly three and a half weeks in the hospital. What many healthcare providers initially brushed off as “movements” turned out to be infantile spasms — a severe and dangerous form of epilepsy that must be treated immediately, for optimal outcomes. Ty and Elsie repeatedly advocated for their son when others minimized the warning signs. Their persistence likely saved Kase’s life.

At times, Kase was experiencing up to 100 seizures a day.

The seizures robbed him of skills he had already started developing. Before them, he had taken first steps and was cruising around the house. Then suddenly, those milestones disappeared. The seizures and medications caused major developmental setbacks and regression.

Through all of it, Elsie became Kase’s voice when he could not speak for himself. Her medical background as a nurse became invaluable during the hardest moments of their lives.

Kase began intensive treatment with ACTH steroid injections — powerful medications mailed directly to their home that had to be injected into his legs. The treatment was physically and emotionally exhausting. For nearly 30 days, Kase barely slept. He cried constantly. He stopped smiling.

Still, his parents kept going.

Another medication, Vigabatrin, helped address the infantile spasms but caused Kase to lose motor skills and created additional setbacks in his development. At Kases lowest point, he had lost head control, was unable to sit or crawl, required oxygen and cough assistive devices when sick, and was no longer a smiling happy boy

Therapy became a constant source of hope. The people surrounding Kase became a huge part of the fight alongside Ty and Elsie.

In June 2024, Kase was hospitalized again to begin a ketogenic diet specifically designed to help control seizures. Doctors and specialists trained Elsie extensively to ensure Kase could tolerate the strict diet safely.

His ketogenic ratio was carefully measured at 2:1 fats to proteins and carbohydrates. Every ounce mattered. Ground beef, mayo, milk, apple juice, and thickened liquids all had to be measured precisely. Liquids could not be too thin or he could choke. Bloodwork every six months monitored his ketone levels and medication safety, while regular doctor visits tracked his growth and progress.

The ketogenic diet became a turning point as Kase no longer needed rescue seizure medications as frequently, and his seizures became shorter and more manageable.

Then came another major turning point in July 2024.

Ty and Elsie traveled to Boston to meet with neurologist Dr. John McLaren at Boston Children’s Hospital. For the first time in a long time, they felt truly heard. He listened to their concerns, validated their fight, and most importantly, gave them hope.

While some doctors hesitated, Boston Children’s prescribed Epidiolex, a CBD-based epilepsy medication that became another major piece of Kase’s treatment plan.

Dr. McLaren told them something they desperately needed to hear: infantile spasms were something Kase could beat.

And slowly, he began to.

Through faith, relentless advocacy, the ketogenic diet, Epidiolex, and medications including Keppra, and Lacosamide, Kase began making progress. By the fall of 2024 into May 2025, he reached an incredible milestone — seven months seizure free.

There were setbacks along the way. During the winter of 2024–2025, doctors slowly weaned Kase off Vigabatrin over 30 days with no seizures returning. Encouraged by the success, they later attempted to wean him off Keppra. But by May 2025, the seizures came back with vengeance.

Kase immediately restarted Keppra at a higher dose while adding Depakote and Onfi. After a few months, the seizures came under control.

His last seizure was in July 2025. Since then, Kase has continued progressing slowly but steadily.

He qualified for private-duty nursing, with help around 20 hours each week — support that became invaluable both physically and financially for the family. In November 2025, Kase started school. The YMCA also became a huge part of his growth, helping push and encourage him physically through therapy and movement with his family.

In April 2026, Kase graduated from a gait trainer to a walker- which was much less assistance being required for Kase to walk.

That same month, he walked to the park using his walker — a moment that represented years of prayers, setbacks, tears, therapy, and determination.

And he is still progressing.

Today, Kase continues physical therapy, Occupational therapy, and Speech therapy while remaining seizure free. The hope is that one day he can slowly wean off medications and eventually transition away from the ketogenic diet as well.

The disorder of 14q32 itself remains, and that’s where we come in to bring awareness, help find a cure or solutions to growth and development, and connect Kase with others similar to him.

When asked about the hardest part of this journey, Ty said it was the nights spent crying and wondering if he would ever hear his son’s voice or watch him walk. Watching their younger son begin speaking while Kase struggled to brought an emotional pain that is difficult to describe.

For Elsie, the hardest part has been grieving the expectations she once had for her son’s life while learning to embrace the reality of what his journey will look like. Seeing her child in pain, through needles, seizures, medications, and endless appointments, tested, and continues to test every part of her heart.

But when asked about the best part, their answers say everything about who Kase is.

Tyler said this journey brought him and Elsie closer than ever before. Despite hospital stays, medical bills, moving houses to be closer to care, stress, fear, and uncertainty — they never split apart. They fought together. They grew together.

Elsie said the best part is Kase himself.

No matter how much pain he has endured, no matter the needles, therapies, medications, or trials — Kase continues to smile. He continues to love people. He continues to choose joy.

And that smile has carried everyone around him through the darkest moments.

Kase’s story is not just about a rare diagnosis.

It is about faith. Advocacy. Resilience. Family. And a little boy who continues to fight every single day with a smile on his face.