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Dad Diaries: Life with A Rare Disease Is Anything but Normal



As a dad, it was my absolute honour and privilege to be able to give my daughter one of my kidneys on June 22, 2021. This was exactly three years after we first learned of her kidney failure.



Life, as we knew it, came crumbling down around us in June 2018 when our oldest daughter, Tanya, was unexpectedly diagnosed with end-stage renal failure. She was 17 years old at the time. Looking back, we realize the first signs started around her 16th birthday. The itchiness was probably the first sign, followed by excessive tiredness, weight loss, and constant headaches. Closer to the time of diagnosis she was pale and constantly out of breath from the anaemia associated with chronic kidney failure. We consulted with a few general practitioners, but they diagnosed sinusitis, wheat allergies, eczema, and a few other things that were treated symptomatically. As chronic kidney failure is not something you would expect in a ‘healthy’ 17-year-old, the diagnosis was only made when she became seriously ill.





She was admitted to the hospital frequently during the next two years. She underwent various tests and investigations, including a kidney biopsy, a bone marrow biopsy, two liver biopsies, CT scans, MRI scans, and even a diagnostic splenectomy. By then, she had a whole team of doctors trying to figure out what was the cause of her numerous health issues. However, it seemed like the more tests they did, the more problems they found. Apart from having a kidney function of 5%, she was anaemic.





She had a total cholesterol count of 12, her liver enzymes were severely raised, her liver and spleen were enlarged and showed ‘spots’, and her heartbeat was irregular.

She was started on haemodialysis three times a week right up until the day before her transplant – three years later. It took us the better part of two years, some expensive genetic tests, and a team of around ten specialists, both local and international, to finally get a diagnosis – Nephronophthisis type 3, or NPHP3. As soon as we realized we were dealing with a genetic abnormality, we screened our other two kids as well. Our son, Marco, our middle child, was fine. But our baby, Mia, who was 11 years old at the time, had some abnormal results that prompted us to do an NPHP genetic panel test on her too. Genetic tests confirmed both the girls had two pathogenic variants of the NPHP3 gene mutation and confirmed nephronophthisis in both.



There is no cure for the condition. Kidney failure is the inevitable progression of the disease. In the case of type 3, they also develop liver fibrosis which means both girls will eventually require both a kidney and a liver transplant. Thankfully, the disease does not reoccur in the transplanted organs, and NPHP patients are known to do very well post-transplant.



As a dad, it was my absolute honor and privilege to be able to give my daughter one of my kidneys on June 22, 2021. This was exactly three years after we first learned of her kidney failure. The transplant team at Wits Donald Gordon Medical Centre was phenomenal. Even though both Tanya and I contracted COVID-19 a week after the transplant, their amazing care ensured we both recovered fast and without any

complications.



We are privileged to have both our girls looked after by an amazing nephrologist, Prof Rajendra Bhimma. He is also one of the only specialists we came across with some experience in managing this condition in Durban. He is a kind and caring gentleman who patiently answers our many WhatsApp messages and emails and never rushes through the three-monthly consultations, which usually take the better part of an hour per child!



Tanya will require a liver transplant soon, and Mia is currently in stage 3 kidney failure and starting to exhibit the same symptoms her sister had. The itchiness can be overwhelming at times, and it tends to keep them up at night. This is causing a lot of anxiety. Due to the extreme fatigue associated with nephronophthisis, Mia had to give up the rhythmic gymnastics she loved so much. She is also starting to lose weight and has constant headaches, which we can only treat symptomatically.




Because the physical effect of the disease is quite significant, we decided to home school so that they could work at their own pace. This turned out to be a big blessing, especially during the COVID pandemic. My wife works from home, so she is constantly around to supervise and support the kids, and both Tanya and Marco completed their matric examinations, although it took a few days longer for Tanya due to her ongoing admissions, the transplant work-up, and eventual procedure. But the most significant impact is the emotional burden.





Tanya’s transplant was a life-changing event that deepened the bond that I share with my oldest but being on immunosuppressant drugs brings about a new challenge as a simple cold has the potential to turn into pneumonia for someone who is immunocompromised.



During Mia’s last kidney ultrasound, the radiologist mentioned to her that her kidneys are a bit too white. Without hesitation, Mia said that she knew her kidneys appeared ‘echogenic’ because of her nephronophthisis. It was a bittersweet moment for us. We are well aware of the fact that the girls will be between transplant and dialysis for the rest of their lives. While we cannot spare our girls the journey, we can prepare them for it. Both girls know their complicated medical history, and we are careful to let them answer the questions when we consult with specialists. Both can hold a conversation with their nephrologist and hepatologist about their urea, creatinine, eGFR, and liver enzyme levels, and both know the ICD10 codes of their various conditions.



Life with a rare disease is anything but normal. However, it is still pretty amazing. I am incredibly proud of how strong and resilient our girls have become despite their challenges.



Article: Paul Nel

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