ANTONI’S STORY

A Journey Through Rare Kidney Disease, Expertise, and Compassionate Care

By Susana Carvajal Arjona – Toni’s mother and ERKNet ePAG

This testimony tells the story of a young boy living with a rare genetic kidney disease, a story I have witnessed closely over many years, accompanying him as his life unfolded through the different stages of childhood, adolescence, and chronic kidney disease. It is a journey marked by uncertainty and resilience, by medical complexity and human connection, and ultimately by hope.

From a very early age, his life was shaped by a diagnosis that very few people truly understand: “a rare kidney disease with a progressive course”. Diagnosed at just eight months old, thanks to the attentiveness of primary care physicians, his condition influenced every aspect of his life.  Over time, I observed how this disease influenced not only his physical health, but also his daily life, his schooling, his emotional development, and the dynamics of his family.  Living with a rare disease means growing up under constant medical supervision, learning to live taking many medications to avoid other diseases resulting from kidney dysfunction, learning medical language before learning adult responsibilities, and understanding limits, risks, and uncertainty long before most children do.

For more than 14 years, this boy was followed by a national expert centre (CSUR) and a European Reference Network centre for kidney rare diseases (ERKNet), ensuring continuity of care at both national and European levels. This long-term, specialised follow-up made a decisive difference in his clinical outcomes and quality of life. His care was not fragmented or episodic; it was structured, anticipatory, and deeply personalised.

The medical professionals involved were not only experts in nephrology, but also specialists in caring for children and adolescents with chronic kidney disease. His treatment was carefully adapted to his age and to each stage of disease progression. As his condition evolved, so did the approach: from childhood into adolescence, from early-stage chronic kidney disease to advanced renal failure. At every point, decisions were guided by clinical expertise, evidence-based medicine, and a profound understanding of what it means to grow up with a chronic condition.

Eventually, as is often inevitable with progressive rare kidney diseases, he reached end-stage kidney failure. However, thanks to close monitoring and expert anticipation, the transition was managed with exceptional precision. The medical team recognised the optimal window for transplantation and acted swiftly. As a result, he was able to proceed directly to a kidney transplant without ever needing dialysis—a crucial achievement, particularly in paediatric patients, where dialysis can profoundly affect physical, psychological, and social development.

The transplant option chosen was a living-donor kidney transplant, with his own father stepping forward as the donor. This decision was the result of careful medical assessment, family counselling, and ethical consideration, supported by a highly experienced transplant team. The emotional weight of this moment—for both father and son—cannot be overstated. It was a moment filled with fear, hope, responsibility, and love, approached with clarity, compassion, and professionalism.

Today, six months after the transplant, both father and son are doing remarkably well. They are living a full and active life, and the boy has been able to continue his education with minimal disruption. He has maintained a sense of normality that is so often lost in children living with chronic and rare diseases. This continuity matters—not only for academic progress, but for emotional stability, social development, and self-esteem.

What stands out most in this journey is not only the excellence of the clinical care, but the human quality of the support provided. The professionals involved did not treat him merely as a patient or a case; they treated him as a child, and later as an adolescent, with fears, hopes, and questions appropriate to his age. Care was delivered with empathy, patience, and respect.

As his caregiver, I witnessed the extraordinary commitment of the medical teams. During critical moments, nephrologists, urologists, and a dedicated nursing team worked together day and night to coordinate care, ensuring both medical safety and emotional reassurance. This multidisciplinary support created a strong sense of security for the child and his parents, reducing fear and uncertainty, and demonstrating how expert, coordinated, and compassionate care can transform an otherwise traumatic experience into a far more humane journey.

However, there are important aspects that remain insufficiently addressed by current healthcare systems, even in the best-case scenarios. One of these is the long-term emotional and psychological impact on  both living donors and transplant recipients.

In this case, the donor was the boy’s own father. While the medical outcome of the donation was positive, donation does not end with surgery. Living donors often carry an emotional and psychological mark that emerges after the operation, once the immediate fear and urgency have passed. Feelings of anxiety, exhaustion, vulnerability, or emotional overload may surface later, affecting the donor’s emotional well-being, family dynamics, and even professional life.

Despite this reality, systematic emotional and psychological follow-up for living donors is rarely provided. Donors are frequently perceived as “healthy” once surgery is over, yet the emotional aftermath can be significant and long-lasting. The lack of structured psychological support for donors represents an unmet need within healthcare systems and deserves recognition and action.

Similarly, children and adolescents who undergo kidney transplantation remain extremely vulnerable after the transplant, even when the medical outcome is positive. The period following transplantation is often marked by emotional instability, sudden mood changes, anxiety, and episodes of depression. These emotional challenges can arise unexpectedly and may temporarily prevent young patients from maintaining their usual rhythm of life, schooling, and social interaction.

Immunosuppressive treatments, corticosteroids, and their side effects dominate the first months after transplantation. For a 14-year-old adolescent, changes in appearance, fatigue, emotional swings, and fear of rejection can be overwhelming. These children are often expected to resume a “normal” life very quickly, yet internally they may be struggling to cope.

For this reason, ongoing psychological and emotional support after transplantation is essential, not optional. It should be considered a core component of paediatric transplant care. In cases of rejection episodes, delayed graft adaptation, or complex treatment adjustments, psychological support becomes even more critical—not only for the patient, but for the entire family.

Another crucial factor highlighted by this testimony is geographical proximity to expertise. Toni lives close to a recognised expert centre, which allowed for frequent monitoring, rapid intervention, and continuity of care. This proximity significantly reduced disruption to daily life, schooling, and family routines.

However, many patients with rare kidney diseases do not have this privilege. For those living far from expert centres, the burden is far greater. Travel requirements missed school days, parental absence from work, emotional stress, and financial strain accumulate over time. The impact on daily life is profound, and inequalities in access to care become increasingly evident. This reality must be taken into account when designing national and European healthcare policies for rare diseases.

This testimony illustrates why expert centres, European Reference Networks, coordinated care, and integrated psychosocial support are not luxuries—they are necessities. They save lives, reduce suffering, support families, and allow children with rare kidney diseases not only to survive, but to live, grow, learn, and dream.