The day our daughter Madzia entered the world should have marked the pinnacle of our happiness. Instead, it marked the beginning of a challenging journey that has turned our joyful tears into those of sorrow. Although time has passed and we have adjusted to our daughter’s difficulties, the emotional burden of her health issues continues to reopen old wounds. Nevertheless, we are resolute in our commitment to do everything possible to ensure Madzia enjoys a joyful and fulfilling life.
Our journey commenced with a diagnosis of Down syndrome, a heavy blow to our hearts. As we began to accept this reality, we were confronted with another devastating truth: six months after her birth, Madzia started experiencing seizures. Despite numerous treatment attempts, the seizures remained resistant to medication. To manage them, Madzia now adheres to a specialized high-fat, low-carbohydrate ketogenic diet, which necessitates constant monitoring and care.
But that was just the beginning. Just when we thought we were finding our footing, we received another diagnosis: Madzia has a rare genetic defect known as the HNRNPH2 mutation, a condition so uncommon that it is not well recognized even by medical professionals. There are only a handful of documented cases globally. This mutation presents a myriad of challenges, including developmental delays, intellectual disabilities, motor and language delays, and various behavioral and psychiatric disorders.
The ramifications of this mutation extend further—Madzia also endures growth and musculoskeletal abnormalities, dysmorphia, gastrointestinal issues, epilepsy, and visual impairments. This is merely a glimpse of the conditions we must manage, and looking at this extensive list, we are compelled to accept that Madzia will likely never achieve independence.
Currently, our daughter is bedridden and requires feeding through a PEG tube. She frequently suffers from pneumonia and urinary tract infections, each posing a potential life-threatening risk. The constant fear of infection looms over us, prompting us to take extensive precautions to protect her, such as avoiding crowded places and seeking private, in-home specialist consultations to limit her exposure to other children.
Despite our relentless efforts, we continue to encounter obstacles. Madzia is under the care of a diverse team of specialists, including pulmonologists, neurologists, nephrologists, endocrinologists, audiologists, otolaryngologists, gastroenterologists, geneticists, ophthalmologists, orthopedists, hematologists, osteopaths, and various rehabilitation therapists. While these therapies and treatments have aided us in managing Madzia’s conditions to some degree, progress has been slow, and there are days when it feels like we are taking two steps back for every step forward. Unfortunately, regressions caused by her mutation often strip away the skills we diligently work to develop during private therapy sessions.
The financial burden of Madzia’s treatment is staggering, and we are constantly grappling with the challenge of affording her care. Many specialists are located far from our home, and the costs associated with travel, vehicle maintenance, and repairs only exacerbate our financial strain. The expenses for therapy sessions, along with special nutrition, supplements, rehabilitation equipment, medications, and aids for vision, hearing, and movement, far exceed our financial capabilities.
Additionally, we have two other children to care for, which further complicates our situation. The estimated annual cost for Madzia’s treatment is around 150,000 złoty—an amount we simply cannot manage on our own. Despite our best efforts to meet her needs, we find ourselves in need of assistance.
As her parents, we are doing everything within our power to provide our daughter with the best possible care and a chance for a brighter future. However, without your support, we cannot meet the financial demands of Madzia’s treatment. Your contribution, no matter how small, could significantly impact our ability to provide the therapies, treatments, and equipment that will enhance her quality of life.
Every contribution you make will assist us in covering the costs of essential treatments, therapies, and equipment. It will provide Madzia with a fighting chance, help her gain the mobility she desperately needs, and enable us to continue our fight for her well-being.
We have not lost hope, even though the path ahead is long and arduous. Madzia’s smile and her determination motivate us to persevere, even in the face of overwhelming challenges. She is a fighter, and so are we. Together, with your support, we believe we can provide her with the future she deserves.
Thank you for taking the time to read our story. If you are able, please consider donating to help our daughter and give her a brighter, healthier tomorrow. Your generosity will mean the world to us and to Madzia.
