Liliana's story is shared by her dad Kamil.
Liliana was born on September 29, 2022—healthy, strong, and full of life. She was our long-awaited, prayed-for miracle who completed our family. From the very first moments, she brought immeasurable joy into our lives. She is a loving, bright, and mischievous little girl who knows exactly what she likes and what makes her happy. She has her favorite toys and absolutely adores her older sister, Apolonia.
Liliana’s first year of life was completely uneventful, with no worrying signs. Shortly after her first birthday, she took her very first steps, and we proudly watched her discover the world around her. Sadly, not long afterward, we began to notice the first alarming changes. Although a vaccination was not the cause of her illness, it weakened her body and triggered the previously hidden disease.
Our daughter became increasingly weak, experienced frequent vomiting, developed drooping eyelids, low muscle tone, and delays in her motor development. We became deeply concerned and began an extensive diagnostic process, including a brain MRI and testing for mitochondrial DNA (mtDNA) mutations. The results did not confirm Leigh syndrome, so we continued searching for answers.
During this time, Liliana’s condition continued to worsen. She developed balance problems, tremors in her arms and legs, and gradually lost skills that had once come naturally to her. We still hoped that we would find a condition for which an effective treatment existed. Unfortunately, the results of whole exome sequencing (WES) brought the diagnosis that no parent ever wants to hear.
Our daughter was diagnosed with Leigh syndrome caused by a mutation in the SURF1 gene. It is an incurable, progressive, and life-limiting mitochondrial disease. Because her cells cannot produce enough energy, they gradually begin to die. The disease progresses rapidly and unpredictably, leading to neurological damage, muscle weakness, vision and hearing impairment, and serious breathing difficulties—the latter being particularly life-threatening. Children with this condition often survive only from a few months to a few years.
Our beautiful, beloved daughter fights every single day. As our doctor from the Department of Neurogenetics and Rare Diseases in Olsztyn describes her, Liliana is a “porcelain child”—fragile and vulnerable. Sadly, we have learned just how true those words are. Recurrent infections repeatedly weakened her respiratory system, resulting in admissions to the Pediatric Intensive Care Unit in Rabka-Zdrój.
During her first stay, the incredible medical team managed to stabilize her using non-invasive ventilation. However, during a later hospitalization, the progression of the disease and worsening muscle weakness made it necessary for her to undergo a tracheostomy and receive a PEG feeding tube. Today, Liliana depends on several pieces of life-supporting medical equipment, including a ventilator, a pulse oximeter, and suction devices. As her parents, we must remain constantly vigilant, ready to recognize even the smallest warning signs and respond immediately.
Liliana receives what is known as a “mitochondrial cocktail”—a combination of vitamins and supplements designed to support her muscles and nervous system. Some of these supplements are available through local pharmacies, while others must be purchased online or imported from abroad, making it essential to maintain a constant supply. She also attends gentle physiotherapy sessions, and we continuously search for specialized equipment that can improve her comfort, mobility, communication, and ability to enjoy everyday life.
Our greatest wish is to allow Liliana to simply be a child—to smile as often as possible, suffer as little as possible, and always feel safe and loved. We want to adapt everything we can to meet her needs and give her the best quality of life possible.
We do not know how this disease will progress. We do not know how much Liliana’s condition may change in a few months, a few weeks, or even a few days. But we know one thing with absolute certainty: we must always be ready to act, respond, and do everything in our power for our little girl.
