Zac turned 10 at the end of june 2010, he is the eldest of our 3children with two younger sisters - Jenny - who has just turned 8 - and Kim - who is 5 and just about to start school.
He was born 4 weeks early weighing 5lb 9oz and was a normal healthy baby.... no need for special care or things like that. He progressed fine but once he reached 5 months and 15lb he hit a wall and stopped gaining weight and growing. Nothing we tried seemed to put on an ounce of weight onto Zac.
When he was10 months old he started vomiting an awful lot.... and got to the point that he was even vomiting up small drinks of water which he would have. We took him to the childrens hospital and they were more interested in the fact that he was “failing to thrive” - we had been more concerend with the fact that he was vomiting . His dad and I had put his small size down to the fact that he was a month early!!
Admission to the hospital and a battery of investigations started. For 4 weeks we saw various doctors, had tests for ceoliac disease and cystic fybrosis amongst others. Then, on July 12 2001 (our 2nd wedding anniversary!) a medical doctor sat us down and told us that he was 99% certain that he new what was wrong with Zac. He listed his small stature (Zac celebrated his 1st birthday in a top for a 3-6 month old which was way too big for him), his very blond hair, his blue eyes and his postcode as indicators that he may have a condition called nephropathic cystinosis. “Cystinosis is incurable....... but we can manage it” were his words to us. He did not start our journey into cystinosis in a negative light. So certain was he that, after taking blood samples to be flown to Guys Hospital in England and arranging for us to meet the leaison nurses from the renal unit, that he sent us home with most of the medications which Zac would need.
Once we got home we found that some family and friends “knew there was something wrong with Zac”. This bothered me.... if they suspected something wrong, why didn't anybody say anything? As our first child, we were finding our way through parenthood. We would find our own rational reasons for things, he was being sick... he had eaten his food too fast, he was crying....he has colic..... that kid of thing...he was little..... he was early and both me and his dad aren't that tall!!
We waited and waited for those blood results. We were told it would be 2 weeks for them to come back.... it took just over 3.
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Cystine is an amino acid of which Cystinotics possess too much. Cystinosis occurs when the mechanism, which removes excess cystine, breaks down. It then accumulates within body cells preventing these cells from functioning correctly. . This initially leads to kidney problems and progresses to other parts of the body, including the thyroid gland, eyes and liver. Impaired growth is yet another symptom of the condition. In the past, it was rare for Cystinotics to survive into adulthood.
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.....and so the journey started...