On the first morning of our family holiday in Sardinia, Charlotte, aged 7, woke up with alarmingly puffy eyes. To us – her mum and dad – the hotel bed seemed a likely culprit. The local doctor agreed. So we bought new sheets, demanded a new mattress, and kicked up a such a fuss that they moved us to a new (far nicer) hotel. And this seemed to do the trick: Charlotte’s puffiness subsided.
All of which proved to be a Sardinian red herring, because 10 days later – back home in her own bed – she began to puff up more than ever. Off we went to the GP who took one look at Charlotte’s eyes and whipped out a urine test stick. By lunchtime she was in hospital and on steroid treatment for probable Minimal Change Nephrotic Syndrome (MCNS).
MCNS is one type of Nephrotic Syndrome – a disease which – for some unknown reason, causes the kidneys to leak protein from the blood (where it should be) into the urine (where it shouldn’t). One highly visible symptom is that the body tissues retain fluid, causing oedema (i.e. puffiness, which, at first, is often mistaken for an allergy).
The most important thing of all is that, two years on from what seemed a life-shattering diagnosis, Charlotte is still feisty, funny and full of energy.
MCNS is a chronic condition that can be debilitating throughout childhood, but generally responds well to steroids. Steroid treatment can sometimes stop the protein loss permanently or, more usually, put a child into remission for varying periods of time. MCNS is not easy to live with (particularly as steroids can have unpleasant side effects) but the light at the end of the tunnel is that most children, quite literally, grow out of it. Nobody knows why, but at some point, usually in the teens, the immune system corrects itself. The kidneys start working normally again and, generally, no permanent damage has been done.
This last bit of information made us feel a little more positive. But unfortunately there was more news to come…
After a few days in hospital it became clear that the steroids simply weren’t working as expected. Usually they act quickly to reduce and, in most cases, stop the protein loss. On Charlotte they had very little effect.
A few weeks later, as there was still no improvement, Charlotte’s consultant advised a kidney biopsy. This confirmed his suspicions.
Like 10% of kids initially diagnosed with MCNS, the biopsy showed that she had the far rarer and more challenging Focal Segmental Glomerulosclerosis – shortened, thank goodness(!) to FSGS.
FSGS is also a type of Nephrotic Syndrome that causes the same leak of protein into the urine. The key diagnostic difference is that under a microscope some segments of the kidney’s filtering mechanisms (the glomeruli) show scarring (sclerosis). The key differences as far as the patient is concerned is that the kidney doesn’t fix itself as it does with MCNS and the condition rarely responds to steroids. If the protein loss continues unchecked, the body is affected in all sorts of ways – including high cholesterol levels and high blood pressure. Eventually the protein itself can damage the kidneys so badly that they fail, leading to dialysis or transplant. This usually happens relatively slowly – over five or ten years, even longer if you’re lucky. And sometimes dialysis or transplant can be avoided altogether. What’s quite difficult to deal with is that you never really know how – or how quickly – things are going to progress.
The good news is that for some children immunosupressive therapies (drugs that lower the strength of the immune system) manage to stop the protein loss and put them into remission for sustained periods. But unfortunately these therapies are – as yet – far from consistently effective. Some children don’t respond to any known treatment. Two years in, Charlotte is, so far, unresponsive, but we’re cautiously hoping for some success from cyclosporin, another promising drug she’s about to try.
It’s not at all easy to give your child powerful drugs – particularly those that lower resistance to infection – but we know dosages are carefully controlled to reduce the risks and side effects. And we know it’s important to keep trying.
The most important thing of all is that, two years on from what seemed a life-shattering diagnosis, Charlotte is still feisty, funny and full of energy. Over the last 12 months she’s learnt to surf and ice skate and, apart from hospital checks, hasn’t had a single day off school due to FSGS. Right now she’s pretty much like any other happy, cheerful seven year old. In Charlotte’s own words, ”Tell other kids that life with FSGS is really OK.
The following websites provide medical information on FSGS
National Kidney Federation - FSGS