Maria Seijas, from Argentina, shares her lifelong journey with CKD, initially misdiagnosed as an autoimmune condition. A genetic test later revealed nail-patella syndrome as the cause. After years of ineffective treatments, her father’s kidney donation in 2020 transformed her life. She highlights the importance of accurate diagnoses while expressing deep gratitude to the healthcare professionals who made her journey possible.
Thank You
Thank you. This is a thank you note to all nephologists and healthcare professionals who work day and night to keep us alive. This is my story, the story of a girl with a chronic kidney disease since birth.
I was born in 1984 in Argentina as a supposedly healthy baby. When I was 4 years old, my mother noticed my eyes were always swollen, and I was sick all the time with pneumonia or bronchitis. During one of these episodes, a urine test revealed abnormally high proteinuria (i.e., protein in urine). At that time, the pediatrician dismissed the results as an error and advised us not to worry. But my stubborn mother, looking at my swollen eyes, took me to a nephrologist, and that is when everything started. At age 5, I underwent a biopsy, which confirmed the diagnosis: glomerulonephritis.
So many years of treatment went by, with doctors convinced I had an autoimmune disease. I was prescribed high doses of steroids, which caused my face to suddenly become round like the moon. Unfortunately, none of the treatments worked, as I appeared to be steroid-resistant. I vividly recall those days – endless blood tests every three months and a series of ineffective treatments. It was a nightmare for a little girl. The prognosis was grim: my native kidneys were expected to fail by my 15th birthday. Each blood test was very stressful, always leaving me wondering if the time had come to replace my kidneys.
I am very grateful for the excellent doctors and family support I had during those years. Thanks to them, I never felt like a sick kid or teenager, and I strived to live a normal life as much as possible within my limits. I was able to go to university, where I studied economics and graduated with top honors, followed by two master’s degrees. Today, I am happily working for the World Bank Group in another country.
Thanks to this approach of living life to the fullest, my kidneys functioned until I was 33. By then, my creatinine levels started increasing exponentially, going from 1.5 to 7.0 in less than a year, making kidney transplant inevitable.
I consulted several specialists, all of whom were still convinced I had an autoimmune condition. They warned that with a transplant, the disease could reappear. The outlook was not good: I would need several sessions of plasmapheresis [Editor’s note: Plasmapheresis is a procedure where a machine separates plasma (the liquid part of blood) from blood cells. The blood cells are then mixed with a replacement liquid and returned to the body. This treatment is often used for certain autoimmune disorders. (Source: NIH)] after transplant, significantly weakening my immune system, and even then, there were no guarantees that the condition would not return.
Those were stressful days. I then met Dr. Trimarchi, who offered a completely different perspective. Unlike the other professionals I had seen, he doubted the autoimmune diagnosis. Based on certain aspects of my condition, he suspected a genetic disease might be the root cause. I trusted his judgement and decided to proceed with a genetic test, even though it meant delaying the transplant for several months and undergoing dialysis in the meantime.
I feel incredibly fortunate to have crossed paths with Dr. Trimarchi. He was right – the genetic tests confirmed revealed that I had a genetic condition called nail-patella syndrome, which affects the kidneys in 30% of cases.
| All those years spent on steroid treatments were ultimately in vain, and if I had not trusted Dr. Trimarchi, I would have gone through further difficult treatments that would have impacted my quality of life. | This experience underscored the critical importance of genetic testing. |
Finally, in February 2020, just before the pandemic, I received my kidney transplant. The most important person in this process was my father, who was my donor. He gave me the gift of life for the second time! The transplant changed my life, and I am now one of the happiest people in the world, living life to its fullest.
Reflecting on my journey, I realize how crucial it would have been to rule out the autoimmune condition earlier. It could have spared me years of ineffective steroid treatments and the toll they took. I believe there are many patients out there who, like me, are misdiagnosed with autoimmune conditions when the true cause lies elsewhere. Prioritizing accurate diagnoses and focusing on patients’ quality of life is absolutely essential. A patient with a happy life is far more likely to adhere to treatment and maintain good health.
I cannot end this story without expressing my gratitude to all the nephologists and healthcare professionals who played a role in my care. Without their dedication and efforts, I might not be here today. I often think that the best way to show my gratitude is by living life to its fullest, appreciating every moment as the incredible gift it is. I hope they continue to save and transform countless lives, just as they did mine.
Disclaimer: The blog series is intended for informational purposes only and is not meant to endorse or promote any specific drug, product, or brand. Each individual’s experience is unique and should not be construed as medical advice or a guarantee of similar results for others. Always consult a qualified healthcare professional before making any decisions regarding your health and well-being.
