Living With Cystinosis: Oscar’s Patient Story, Part One

This story was originally published in The Cystinosis Advocate, the newsletter for the Cystinosis Research Network, a Patient Worthy partner organization. 

Oscar was born in January 2020. He was a very big baby at 75cms long, 4.54kgs weight, and a massive 38cm head. He was solid from the get go and loved his food. He was such a hungry little fella that we were referred to a pediatrician at three months old because his size was tracking at the
very top end of the scale and we were advised to start him on solids early. Things were progressing well and he was a very happy and contented baby. It was only when Oscar was ten months old that things began to fall apart. Oscar began vomiting in the night after sculling down water. We thought it was teething as his cheeks would go red and he was very hot to the touch. He would want water all the time and would get upset when we wouldn’t offer another bottle after he had smashed down the first bottle.

credit: Fiona Lauren Photography

We went to our local GP to query the amount of water he was drinking. We were told that it was normal and he just liked his water. We queried the vomiting, but were told it was likely reflux and not to worry, as all babies had some form of reflux. We first noticed that Oscar was trimming off at around 10.5 months old. Oscar had begun walking super early at nine months, so we put the weight loss down to him being really active. It was only over Christmas when he was standing in his swimmers that we saw how much weight he had lost and his legs had bowed out. We knew something wasn’t right, and we booked in to see the GP at their next available appointment.

We didn’t make it to that appointment. The day after his first birthday party, everything went downhill fast. We were out with my parents for breakfast, something Oscar loved to do, but after inhaling the food, he had a massive projectile vomit. We took him home and he seemed to perk up again so we put it down to him having caught a 24-hour virus from daycare. The very next day he deteriorated further including falling asleep on the change table. We raced Oscar to the children’s emergency department where he was weighed at only 8.7kgs – much to our absolute shock and horror.

credit: Fiona Lauren Photography

We couldn’t work out how our little boy had deteriorated so quickly from a healthy 9.9kg baby at six months, to now being diagnosed with a failure to thrive. We were very distraught and blamed ourselves that we were not feeding him correctly. We questioned everything that we had been doing. He was quickly admitted to ED for the failure to thrive and they found that he also had tonsillitis. An urgent appointment was made with a pediatrician. We were nearly discharged at this point; however, his bloods were taken and they saw that his potassium had dropped to 2.5 and that he was in severe hypokalemia. It was all systems go from here and as it was during COVID, Tim had to quickly race back into the hospital. Oscar continued to deteriorate that night and a nasal gastric tube was inserted along with what felt like a million cannulas.

Continued in Part Two

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