Friday, 30 July 2010

living with Zac

As Zac has grown his list of medications gradually grew with him. He started on just a few drugs..... cystamine, potassium, eye drops as the cystinosis affects the eye as well etc.
currently this is Zac's list of medication:
cystamine: to be given every 6 hours 12md, 6pm, 12 md and 6am
cystamine eye drops: 4 times daily
enalapril: 2.5mg daily (to reduce pressure on kidney)
frusemide: 5ml daily (Zac has been retaining excess fluid)
ranitidine: 4ml twice daily (helps protect Zacs stomach from acid)
omeprazole: 30mg daily (also to protect stomach form acid)
These below are given to replace electrolytes lost because of the kidney failure:
potassium chloride: 15ml twice daily
potassium acid phosphate: 5ml twice daily
sodium bicarbonate: 50ml three times daily
other medications he takes:
sodium ferededate (sytron): 10ml twice daily (to treat anaemia)
darbopoetin: 20micrograms weekly (as above)
alfacalcidol: 4nanograms daily (replaces vitamin d)
norditropin simplex injection: 1mg daily (human growth hormone)
levocarnitine: 4ml twice daily (aids muscle strength and growth)
piroxicam: 10mg daily (ease joint pain due to arthritis)
Getting these medications into Zac is almost a 24hour a day job. Our routine starts at 6am when he gets cystamine and some others. We stagger the times of his morning meds as he gets so many. He then gets more at 7am and once he gets up if its a school morning. His school is fantastic and give him his lunchtime medication and also have been trained on using his ng tubes when he has had them and also have been incredibly accommodating with his other needs which have been growing lately.
After school Zac gets more medications when he gets home. Again, before dinner and after dinner. And each night he needs an injection of growth hormone as most cystinosic children don't produce enough to grow normally. Even with this he is noticeably smaller than his peers.
Once in bed Zac is attached to his feeding pump which provides liquid feed over 12 hours. More medications are given at 9pm and finally at midnight. A good nights' sleep for us is 5 ½ hours. Usually sleep is interrupted most nights with either his pump alarming or him running out of water to drink.
With cystinosis comes many clinic visits!!!!! over the years our clinic list has grown like his medications list. Currently Zac attends:
renal clinic approx every 6-8 weeks, sees consultant, dietician, pharmacist
orthotic, 6 monthly
optician, 6 monthly
rheumatology, 6 monthly
orthotic dept 6 monthly
other people Zac sees regularly include: physiotherapists, psychologists, family psychiatry liaison team, surgical clinic, respiratory.
In the 9 years since Zac was diagnosed he has also had a few (relatively minor) surgeries. First was to site his original PEG feeding tube. This was replaced with a Mick key feeding button after a year. He has had a Nissian fundoplication which prevents him from being able to vomit. Mick key button removed and replaced with various tubes. Tonsil and adanoidectomy as he had sleep apnoea. Feeding tube removed and closed as he was rejecting his button. New site established after 12 months.
We have been rather guilty of not telling people just how much goes into caring for Zac. Those who have cystinosic children will probably agree. I think we tend to let – even close family and friends – in to a certain degree..... but we keep a huge part closed off. Why? I don't know.
Its hard looking after Zac a lot of the time. There are many nights when you lie awake and all you can do is think about everything related to life with a cystinosic child.... the things he wont be able to do, things he wont even get the chance to do, the dreams which will never happen, and – dare I admit it, there are even times when I have thought about how inconvenient it is, how jealous I get of people who get 8 hours of sleep... how my life is harder...... and then the guilt hits for feeling these things. Wondering if he will go home after a clinic visit or be admitted to the ward, that wait after getting home for blood results every six weeks to see if we need to change meds or even bring him in to the ward.... Life can be hard.
But life can be so amazingly fulfilling, and humbling, and wonderful. Those tiny things. Like watching him laugh with that infectious laugh. When he manages to do something for the first time. When he achieves something he has struggled with. When you watch him laughing with the nurses an hour after theatre with his lines still in, on oxygen and insisting he wants to walk to the toilet with a cannula in his foot!!!
These are the times I am so damned proud of my son!
And I am proud to be his mum...

Monday, 5 July 2010

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...