Lucy was a happy baby, although noticeably slow in her physical development. When Lucy was 2 she attended a day nursery but seemed to spend more time at home than nursery as she was constantly ill, but we knew that this was pretty normal as our son had also caught every illness going at the same age.
Just after Lucy turned 3 we began to despair with the constant illnesses and we seemed to be permanent fixtures at the doctor’s surgery with her for about 6 months. We noticed that Lucy’s friends at nursery seemed to recover from their illnesses within days whereas Lucy would take weeks, just start to recover and then catch something else. She began to lose her appetite and lost quite a bit of weight and was generally really lethargic and tired out. We were assured that it was just a bad patch of illnesses and that her appetite would return and she would be fine! We accepted this and carried on, as despite feeling tired she was playing and quite happy. A few days later she really began to look painfully thin and very pale with brown rings around her eyes and was drinking excessively at which point we took Lucy back to the doctors for a blood test.
Just over a year on from her diagnosis, Lucy (now 4 and a half) appears to be like any other child and people are always shocked to hear that she has chronic kidney failure.
We were then called urgently to the local hospital on New Years Eve 2007 and were told that the blood test showed that there was something seriously wrong with Lucy but that more tests needed to be done. This was the moment that every parent dreads, and not knowing what was wrong was agonising for us. We spent a very anxious night knowing that our lives were about to change dramatically, and fearing the worst. On New Year’s Day 2008 the doctors began to realise that there was a problem with Lucy’s kidneys and after a scare with her blood pressure she was rushed to the Paediatric Nephrology Unit at Southampton General Hospital in an ambulance.
Lucy remained there for several weeks while the team tried to establish what exactly was wrong with her. We were given a glimmer of hope that it may be acute kidney failure, but an x-ray of her wrist bones confirmed that unfortunately Lucy had had this disease for some time as her bone development showed the tell-tale lace-like growth that they were looking for and so we then knew that she had chronic (irreversible) kidney failure of some sort and that her future would depend upon a successful transplant and possibly dialysis.
The following days involved numerous scans, a biopsy (which showed withered kidney tissue) and a lot of monitoring. She was diagnosed with the genetic disease, Juvenile Nephronophthisis, which causes a progressive destruction of both kidneys, meaning that she will need a transplant before or when she reaches adolescence. She was eating nothing at this point and was fitted with a naso-gastric (N/G) tube through which her feed and medicines could be administered. The doctors began to work out which medicines Lucy required and eventually after all sorts of training we were sent home to begin our new life.
It was really daunting at first and everything seemed to take so long, just keeping on top of ordering medicines and ‘plastics’ for her overnight feed machine, visits from her nurse, the endless washing, and administering the medicines – it seemed like a full time job! Lucy herself was really very poorly at this point, she was constantly sick from the medicines and she was very weak and had no energy at all as she was so anaemic. We would literally have to carry her from the house to the car and then to a pushchair to go anywhere. Those first few months were really hard to live through as she seemed so very poorly, and her N/G tube caused endless problems as it made her sick or would become blocked and we would have to have it refitted all the time which was traumatic! Each time we gave her medicines it would take us about an hour as we needed to test that the tube was actually in her stomach before we could start, which involved extracting stomach contents and testing for pH. As Lucy ate nothing and was so sick after her night time feed it was so difficult to actually get anything to test!
Life began to improve considerably after a few months when we were able to begin giving Lucy EPO (Erythropoietin) injections which enabled her body to produce red blood cells, and this along with the iron she was receiving meant that she began to pick up rapidly and was no longer anaemic. She also had an operation to fit a gastrostomy tube in her stomach so that we could finally get rid of the N/G tube which had caused so many problems. After this, Lucy began to thrive, grow and put on weight. She began school and absolutely loves it.
We are still amazed at how complex the kidneys are. We had no idea that they were responsible for processes such as blood formation, bone growth and blood pressure along with the obvious functions of removing waste products from the blood and maintaining the body’s water balance.
Just over a year on from her diagnosis, Lucy (now 4 and a half) appears to be like any other child and people are always shocked to hear that she has chronic kidney failure. She still gets very tired and has to be tube-fed overnight but she does eat small meals in the day now too. She is so happy and is enjoying life to the full, enjoying school, swimming, ballet and tap, and is a big fan of any kind of dancing. A year has made an enormous difference to her!
We are hoping that as her kidney function is closely monitored, that Lucy will be able to benefit from a pre-emptive transplant, meaning that she will receive a transplant before she needs dialysis. She currently has about 40% kidney function and will need a transplant when this reaches 10%. We hope that we will be able to give Lucy the kidney that she needs, but in the mean time we are all just really enjoying having such a happy little girl.