Living With Cystinosis – Our Story So Far

In 2001 Vicky and Roy Forsyth’s 7-month-old daughter suddenly fell ill as they were moving house. What was initially thought to be a bug, persisted and was eventually diagnosed as Cystinosis, turning their world upside down. Vicky, Roy and their daughter have had to learn to deal with a punishing medicine regime and uncertainty over their daughter’s future. However, since then, they have become active members of the Cystinosis Foundation UK, raising awareness and considerable sums for the Foundation that has helped fund research and given them new hope. Their daughter is due to start school this month.

Author: Roy Forsyth
Lena Forsyth Hospital
Like many other parents with children with an unusual medical condition we have a story. Our daughter was born in October 2000 and every thing seemed fine. We were first time parents and we took our time to settle into the job.

We moved house in June 2001 and on that weekend our daughter stopped eating, something she was just starting. She was constantly thirsty and very constipated. Naturally, we thought it was down to the move, coming off breast milk or a bug – basically something simple. Our doctor thought so too but after a small battle of wills, something just didn’t feel right to us, she was finally admitted into hospital. The consultant we saw passed us onto a colleague. This doctor recognised the symptoms and advised us of Fanconi syndrome (a kidney condition). The results of further tests pointed to Cystinosis. We later discovered how fortunate our daughter was to be diagnosed at such an early age. The consultant had another patient with the same condition which is very rare. There are only approximately 150 cases of this condition in the UK at present. The condition is quite difficult to diagnose and very little is known about it

Cystinosis is a complex condition passed onto a child when both parents carry a recessive gene. Those with cystinosis cannot process an amino acid called cystine used in every cell in the body. When the cells cannot rid themselves of the cystine, it forms crystals and from there a ripple-effect is cast. The major effects of cystinosis include excessive thirst and urination, frequent vomiting and reflux, refusal to eat, failure to thrive, muscle weakness and bone disease, photophobia and kidney malfunction. The thyroid, pancreas, liver, spleen and central nervous system are also attacked.

Without effective treatment, affected children develop end stage kidney failure at about age nine, when dialysis or transplantation is a must, and ultimately face death at a young age. The treatments available slow down the deterioration process, but life expectancy is affected.

After diagnosis the bottom seemed to fall out of our world. You never expect something like this to happen to your child. Our daughter was kept in hospital for a week and the medication regime started.

The main medication is Cystagon, this breaks down the crystals. But due to the side effects of the medication it had to be started at a very low level and built up over a matter of months. The effectiveness of the medication was monitored by blood tests, and these bloods could only be analysed at five centres in England, which was a logistical nightmare for the hospital to begin with. The medication was given orally every six hours over a 24 hour period. That was the worst task by far – having to physically restrain your child and force her to take this foul tasting medication day and night. The phrase that she would get used to it would crop up now and again but I wouldn’t think anyone would get used to taking such a pungent medication and this is a problem with older patients not taking it because of the smell and taste.

The medication also causes nausea and cystinotic children are prone to gross reflux, so vomiting at every medicine session became routine from the start. But as the vomiting brought up the medication it had to be re-administered. In between these main medication sessions are additional sessions to replace the minerals lost due to the kidney dysfunction, these too caused vomiting and had to be re-administered.

So it seemed for a while we were caught in a never-ending cycle of medicine and vomiting, day and night. There was barely time in between one session to prepare for the next. Our daughter was exhausted and so were we. A nasal gastric tube was fitted and this was a great tool. Then, after it became apparent that the tube was going to be required for a longer period, a gastrostomy button was fitted. We still have this and it works well.

The tube meant one person could do medication without having the physical struggle of holding and administering. The medication went direct into the stomach so the smell and taste problem was at least removed, even if the nausea wasn’t. The vomiting continued, which destroyed the natural instinct to eat. We were, however, able to feed her constant thirst through the tube.

There is no doubt that early period was hard on us all and particularly our daughter. The medication was vital but no matter how much good it did there were the terrible side effects to contend with. No sooner did things seem to level off a bit then a new set of bloods would reveal that a higher dose of medication was still required and the cycle would kick-off again. The vomiting is extremely difficult to describe. It was, and remains today, exhausting for our daughter when she has a session. For a child who is not very physically strong to go through this numerous times a day is hard.

Lena Forsyth ZooWe discovered the Cystinosis Foundation UK on the internet and, although they didn’t have any magic cure, we at least found a point of contact – something to let us know there were others out there. In June 2004 they launched their first major appeal for funds to support research into improving the medication taken by cystinotic people. We wanted to help but didn’t know where to start. A local dancing class started us off with a donation and from there we prepared and sent out an appeal letter to 300 friends and family. Since then fundraising activities have grown considerably. The Foundation is now in a position to fund research at Sunderland University and also support a project at Robert Gordon University in Aberdeen.

These projects are trying to improve the effectiveness of Cystagon and eliminate the problems of the unpleasant taste, smell and nausea. If the effectiveness can be improved then a lower dose will need to be taken, reducing the side effects. These projects will take time and we will be lucky to have improved medication in 10 to 15 years time, but we are prepared for the long haul. Hopefully the work being done at present will help our daughter in the future, but more so the other children who will follow as this is not a cure.
Lena Forsyth Laying DownOf course, there are no guarantees with the research but doing nothing is worse than failing. The Foundation is able to fund high quality projects, and knowing there are dedicated people working on these should give hope to all.

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