Life as we know it came to a complete standstill in June 2018 when our oldest daughter, Tanya was diagnosed with end stage renal failure.
We are a close family living in a log cabin build by my husband’s great grandfather. We live at Tugela Beach on the KZN North Coast and we have been married for 22 years. We have 3 kids, Tanya our oldest is 18. Marco is 16 (they are exactly 18 months apart!) and Mia is 12. Tanya was always very athletic. In primary schools she excelled as a long-distance runner and was the senior Victrix Ludorum in Gr 7. She was a healthy teen and apart from allergic rhinitis she had no chronic illnesses.
About 3 years ago she started to itch all over. It got so bad that she would break skin scratching her legs and feet against her bedding at night. Our GP diagnosed eczema and it seemed like a reasonable diagnosis at the time as eczema would have explained her dry, flaky skin and severe itchiness. Tanya was never overweight, just a nice athletic build but in the beginning of this 2018 we noticed that Tanya started to lose weight. She was invited to a matric farewell with a friend and initially we thought that she just wanted to look her best in the beautiful dress she picked out. However, she slowly continued to lose weight even after the event.
Our family went to the Kruger National Park for the winter holidays. It was here that we became really worried and started to see big red flags waiving around. Tanya could not walk around without becoming severely out of breath and she was sleeping most of the time. Anybody who has been to the area would know that there are not a lot of medical facilities in Komatiepoort but we were able to test her sugar and blood pressure at a local clinic. Both were normal, but Paul and I both knew something was very wrong.
Paul’s cousin is a specialist in Nelspruit, and we asked Jean to help us find out what is going on. He did a lot of tests and on Monday 25 June 2018 broke the news to us; Tanya was in renal failure. At this point we knew we had to return home to KZN immediately to get Tanya admitted and treated but we also didn’t want to leave Nelspruit where she was under our cousin’s direct care and observation. Our amazing cousin – Dr Jean Nel called several specialists in KZN, but due to the holidays most were unavailable. He eventually got hold of a nephrologist in Gateway hospital that was willing to have her admitted under his care immediately. Tanya was admitted to Gateway hospital on 29 June 2018 and spent the next 19 days in hospital.
We got more bad news; she also had extremely high cholesterol (10! and her triglycerides was 6). Her liver functions were abnormal, and she had an enlarged liver and spleen. Our nephrologist called in a haematologist who told us from what he could see she has either TB, Sarcoidosis or lymphoma, however he needed to do more investigations.
While in hospital our brave girl had an enormous number of tests and investigations done; daily blood tests, several scans, a renal biopsy, liver biopsy, bone marrow biopsy and after 3 days of extremely high doses of cortisones failed to kick-start her kidneys, she had a dialysis catheter implanted and started with haemodialysis.
We got even more bad news; they saw ‘spots’ on her liver and spleen and because the biopsies missed the lesions, they now needed to remove her spleen. (the spleen is too vascular to be biopsied) But before they could do this, she needed to have specific vaccines that will help with her immunity after the splenectomy. She was eventually discharged home on 17 July 2018 – which is also Paul’s birthday. Having her home was the best birthday present and we celebrated being 5 again by taking our kids to the movies.
However, having her home was like having a new born baby; by now we learned that Tanya had irreversible renal failure, hyperlipidaemia, an enlarged spleen with granulomas and abnormal liver function, but we still didn’t know why…
Tanya eventually had a 4.5-hour operation at eThekwini hospital on Wed 5 September 2018. It was a 3-in-1; she had a sinus operation to rinse out her sinuses and ensure there is no risk for infection that may cause sepsis afterwards, an ultrasound also picked up she had gallstones, so she had a laparoscopic cholecystectomy (removal of her gallbladder) as well as the splenectomy (removal of her spleen).
The operation was postponed once before as she picked up a nasty sinus infection and her bleeding time remained too high (above 15 mins). The operation was only possible with lots of prayer, intra venous progesterone and platelets and whole blood transfusions which eventually brought her bleeding time down to 9 minutes (a normal bleeding time is around 1 – 8 mins). She was also kept in isolation for the duration of her stay and was eventually discharged after 12 days in hospital.
Unfortunately, the spleen’s histology did not give us any answers, but we were happy to learn Tanya did not have TB, Sarcoidosis or lymphoma. The haematologist told us it is time to start testing for metabolic / genetic disorders. Because we were now facing a possible metabolic or genetic disorder, we decided to have Marco and Mia tested as well; Marco’s results were fine, but our little Mia’s kidneys had an echogenic appearance on ultrasound and her liver functions and cholesterol was also abnormal, and there is now a concern that she may be heading down the same path, however for now she is symptomless.
The nephrologist referred Tanya to an endocrinologist, who turned out to be the biggest blessing to us. She is an amazing doctor and we are extremely grateful to have met her. She contacted specialist in various fields literally all over the country and overseas and she spent an enormous amount of time and resources on us. She kept us updated with early morning / late night emails through every step of the way but unfortunately came back with bad news; nobody in the country was able to pin down exactly what is wrong with Tanya. Tanya’s new endocrinologist also requested specific metabolic tests which were done at PLIEM at NWU and here they finally were able to determine that we are looking at a genetic condition.
Most medical aids do not cover treatment outside the borders of the country – and honestly, we did not expect our medical aid to fund this as we fully understand that overseas testing falls outside if the cover they provide. We started fundraising via a well-known fundraising platform and raised enough money to do the expensive overseas genetic tests required for a diagnosis. The tests were done in the USA and the results indicated that Tanya tested positive for the NPHP3 allele (there are several ones described) but this condition fits her clinical picture, the renal failure, liver involvement etc. Unfortunately, there are very few cases in the world so to know her long term outcomes and progression of the condition is going to be difficult.
Our endocrinologist and nephrologists are still working with the doctors at PLIEM to find out as much as they can about the condition, and they seem to have pinned down a very valuable source in the Netherlands. In the interim we are also consulting with a paediatric nephrologist who is now looking after our youngest, Mia. We hope that if she is diagnosed sooner and managed more closely her progression may not be as severe as her sister’s.
The good news is that NPHP patients do well after renal transplants and the new kidney is not known to be affected by the condition. We met the transplant team at St Augustine’s hospital in early June 2019 and we were very excited to start the transplant preparations. They are an amazing group of people and clearly have a passion for this calling! We were also shocked and saddened to hear that up to now there were only 2 cadaver donor transplants done at the hospital – which means only 4 people on the transplant list received cadaver donor kidneys this year. Most transplants are done with live donors.
Both my husband and I will be tested as possible live related donors for our daughter and considering the scarcity of cadaver donors we are praying hard that one of us is a suitable match. But in the back of our minds we are also mindful of the fact that our little girl may be following the same path as her sister and will most probably also need a renal transplant in a few years’ time.
We share our story in the hope of creating awareness for the need that exist in our country for organ donations. Donating the organs and / or tissue of a loved one or your own if possible is an invaluable gift that can never be fully understood unless you find yourself in the unfortunate side of the needy party. If you haven’t done so already, we appeal to every person reading this to please have a serious discussion with your family and loved ones about organ donation today! Unfortunately, the question of whether or not to donate a loved one’s organs is most often presented in the event of trauma and loss and the decision to say yes may be much easier if there was a previous discussion on the topic.
Please consider REGISTERING as an organ and tissue donor. Remember to TALK to your family about your decision so that they know your wishes and of course SHARE your decision with others to encourage them to do the same. #BeAHero