When Konrad and his wife learned they were expecting their fourth child, joy and hope filled their hearts. Their three older children were healthy and thriving, and the pregnancy had gone smoothly — or so they believed. All routine scans showed no abnormalities, and doctors assured them that everything was proceeding normally. Yet, the moment Zuzia Motyl was born on December 1, 2022, their world changed forever.
The delivery was planned as a cesarean section due to breech presentation and the mother’s medical history of two previous cesareans. At birth, however, Zuzia struggled immediately. She did not breathe on her own, and attempts to stimulate her for five minutes proved unsuccessful. Her airway was filled with frothy secretions, requiring repeated suctioning. To make matters even more alarming, she was born contracted in a fetal position, her tiny body rigid and unyielding. Her Apgar scores were 6, 3, and 8, and she was diagnosed with moderate to severe birth asphyxia.
From that very first day, the challenges were overwhelming. Zuzia was unable to feed on her own, requiring intravenous nutrition. Her parents quickly learned that she had suffered pathological fractures to both femurs, a condition that left her tiny legs immobilized and painful. Yet, even amid these immense struggles, Zuzia demonstrated remarkable resilience. She endured procedures and immobilization without showing signs of pain, displaying a strength beyond her months.
Further examinations revealed a series of complex congenital issues. Zuzia was diagnosed with dysmorphia, a set of genetic defects that affected her appearance and multiple organ systems. These included a prominent occiput, flat forehead, strongly set ears, receding jaw, short neck, clenched hands with overlapping fingers, contractures in the elbows, wrists, hips, knees, and ankles, deformed feet positioned on the heels, and a slightly barrel-shaped chest with a large belly and flaccid abdominal walls. Every detail of her tiny body was affected, highlighting the extraordinary severity of her condition.
The most recent and devastating discovery came from genetic testing. Zuzia was found to carry an ultra-rare DYNC1H1 de novo mutation, a genetic defect so rare that its incidence is less than 1 in 1 million. Worldwide, only about 300 cases are known. This mutation explains her extensive physical and developmental challenges and confirms the complexity of the medical journey that lies ahead.
Every day, Zuzia’s parents face a life filled with medical appointments, tests, and therapy sessions. Alongside caring for their three other children and managing daily life, they navigate an endless marathon of rehabilitation, feeding, and medical care. Their dedication is unwavering, yet the weight of these responsibilities is immense. Each therapy session, each specialist visit, and each small milestone achieved requires resources, energy, and emotional strength far beyond what most families could imagine.
Despite the enormous challenges, Zuzia continues to fight with courage. Every tiny movement, every improvement in motor skills, and every response to therapy is a victory — a testament to her strength and determination. Her family’s commitment ensures that she receives the care necessary to maximize her potential and maintain her health and comfort.
However, specialized treatment and rehabilitation are costly. Advanced therapies, adaptive equipment, and ongoing medical care require financial support that exceeds the family’s means. It is for this reason that Konrad and his wife are asking for help. Their plea is simple but vital: every donation, every act of kindness, and every shared message of support provides the resources needed to give Zuzia the best chance at recovery, development, and a quality of life she deserves.
Zuzia’s story is one of resilience, courage, and hope. She is a brave little girl fighting extraordinary odds, and her family is determined to ensure she has the opportunity to thrive despite the challenges she faces. With the support of compassionate individuals, Zuzia can continue to receive the therapies, medical care, and love she needs to grow stronger and reach her potential.
Every contribution, no matter the size, helps secure Zuzia’s chance at life, mobility, and happiness. Her journey is not just a medical struggle; it is a story of human resilience, parental devotion, and the remarkable courage of a child determined to live despite unimaginable obstacles. Zuzia is a fighter, and with help from the world around her, she can continue to overcome the challenges before her.
Konrad, her father, reminds us: “We cannot give up on Zuzia. She is our daughter, our miracle, and every act of support brings her closer to a brighter, healthier future. Please help us fight for her.”
