His first week weigh-in brought about Viviana’s first instinct that something was amiss. Paolo had picked up weight, Luca hadn’t. Viviana’s worries started kicking in. Second weigh-in brought about an increased concern as Luca was now dropping in weight, and the first signs of failure to thrive. The third weigh in was canceled as he had developed a fever; and the nursing sister became alarmed and sent us straight to the paediatrician. He was clearly agitated at this point.
We were becoming increasingly aware that Luca was thirsty, and the milk was not quenching his thirst, in fact he was bloating. Luca was not well, high fevers, and us parents knew something just did not feel right.
At this point we felt that our paediatrician was overlooking something more. And decided to go see neonatologist Dr. Mackay, who was present at the boy’s birth, and who had provided the most amazing care to Paolo.
So off to the appointment, with Luca still having high temperatures, with us not knowing what was going on. With in a matter of minutes, she completely validated our concerns. Dr. Mackay was not happy, and Luca was admitted. Now the panic started to feel real…With Paolo and Siena (Age 4) at home and Luca and mom and I, in the Parklane paed ward. Dr. Mackay had started testing for every possible juvenile disease for Luca. From many many blood tests to rule out infections, to lumbar punctures, testing for blood diseases, echo tests for the heart and an MRI. The word Nephrogenic diabetes insipidus (NDI) kept emerging to explain elevated blood sodium levels. But he was not responding typically and so we would return to the drawing board.
As we think back during the testing period. We have a standout memory of Dr. Mackay expressing her grave concern that she was looking for everything as something was wrong but was not sure what. It was the first time I realised that I might lose my Luca. Devastating fear set in; we had no words…just tears…and prayers from all over, WhatsApp groups, to family prayer groups to overseas. This guy had no choice, we need to find out what’s going on.
From the many nights in hospital, taking turns, with Viviana holding down the majority of the fort at the hospital and, with our amazing support system (Two amazing grandmothers) giving each other a break to rest and be home with Siena and Paolo. All hands-on board. I was juggling between the two; home and hospital, as well as trying to keep going with work pressures.
After a couple a weeks, Dr. Mackay was more certain than ever that NDI was the most likely explanation. Luca’s high temperatures, his incredible thirst (Masked as hunger) and increased sodium levels were still the prominent symptoms. The only way to confirm was how he responded to treatment after a water deprivation test. This meant restricting his fluid intake, while testing blood and urine concentrations of sodium. It was a tedious heart-breaking test, I saw my wife’s apprehension escalate at the fear of not being able to feed her baby for those hours. But this was a turning point test that needed to be done, and we knew we needed to do it. The water deprivation test sent Luca into kidney failure within only a few hours. A clear sign that his body could not manage without fluids. IV Fluids were administered immediately. The administration of these IV fluids was the point at which everything became so clear.
For the first time in 5 weeks after a abundant dose of fluid and water, Luca’s temperature ceased. It was clear that Luca’s high fevers were a result of dehydration and that all this boy needed was water. Dr. Mackay and the miracle team of 6 Doctors came to the conclusion of NDI – Nephrogenic Diabetes Insipidus. Almost felt like the world fell off our shoulders; With the ongoing consults, from Dr. Mackay to Dr. Bachelor, to Prof Gottlich, his amazing nephrologist. NDI is a kidney condition, whereby the kidneys are unable to absorb ADH (hormone), which concentrates urine. As a result the toxins in his blood are not filtered out by the kidneys, resulting in higher concentration remaining in the blood. His urine is dilute, the higher sodium levels put him at risk for dehydration and increase his thirst. His kidneys have an increased water supply to work through, putting strain and increasing risk of hydronephrosis.
Treatment options opened up. This was a process in itself. Balancing his thirst with water and feeds in the first year was tedious. The more water he drank the less he fed on his formula and the more he struggled to grow and thrive. But restricting his water made him agitated and clearly distressed. We had an amazing team approach, with dietician adding low sodium calories to his formula feeds. His growth was slow, feeding issues were intensified, with vomiting feeds and gag reflexes being pronounced. Sensory issues around the feeding became pronounced too and he was very hypervigilant to anything we were trying to feed him. Over the years and as he was able to separate calorie intake in solid form from fluids, he has been able to feed better. Medication is a big part of his treatment, which is constantly monitored according to his growth. This has been adjusted with the guidance of Prof Gottlich, his care nothing short of world class. He currently is treated with diuretics and an anti-inflammatory drug.
To get this point, to see Luca develop over the years to a boy who is 6 years, in Grade R, you just cannot stop and take a moment to smile and to reflect how special this little guy is. Today Luca is still slowly putting on weight, but this does not slow him down.
H2O has been Luca’s absolute must to keep conquering this NDI. Water is life for Luca (Colder the better). He happily drinks around 4 litres in a 24-hour cycle.
There are still some things that get Luca down, especially the heat, so hot days in Jhb are meet with some struggles and exhaustion.
All in all, Luca’s condition is 1 in 500,000, more likely to be hit by lightening…or eaten by a shark. Our boy is rare, but he is our rare boy, and hope sharing his story will bring light to someone who needs it right now.