My Diagnosis

This has definitely been difficult to write. It has brought up a lot of emotions for me. There were definitely some tears writing this, it is when my life turned upside down and at such a young age, I believe it changed me BUT I wouldn’t be me today if I didn’t happen. I am so thankful to be able to be here today and to be able to share this with you so I hope you enjoy reading!

My life began pretty normal, it was when I was 5 that things started to change. My diagnosis wasn’t straight forward. I was very lethargic and extremely fatigued; I couldn’t even dress myself in the morning. I was sleeping a lot of the time and I also wasn’t urinating much. My parents knew that something was wrong and took me to the GP for several months, getting the same diagnosis of constipation. A locum GP decided to do blood tests and sent me to the paediatric unit at our local hospital as my haemoglobin was so low. Haemoglobin is a protein present in red blood cells, responsible for transporting oxygen from the lungs to cells in the body so this showed that something wasn’t right. I was sent home from the hospital, again with constipation as a diagnosis. That evening we got a call from that hospital when they got further blood results as they had done a full blood picture. They told us to pack a bag and go to them to get a letter before going to the Royal Victoria Hospital for Sick Children Musgrave Ward. The nurses had told my parents to be prepared to be here for a while, at that point they didn’t know what they meant. I remember I was carried into the ward over my dad’s shoulder and all I could see was me getting further and further away from the door, wondering where I was as I had slept the entire car journey there. At this point all I knew was that something serious was happening but there were no answers for my questions.

I was put into a side ward and my aunt arrived so that my parents could go and speak to my consultant because my mum didn’t want me to be left on my own. My dad and mum were taken into a room to speak to my consultant, something that makes your brain automatically think that there’s bad news. In these circumstances ‘bad news’ seems like an understatement. My parents were told that I was in complete renal failure, and I needed to go on dialysis ASAP to keep me alive. The issue was that I wasn’t fit enough for surgery for the catheter for dialysis and to prepare for the worst. Bit of a stalemate we were in and as you can see it is a miracle I am still here today. I was given a blood transfusion to try to increase my haemoglobin and was also put onto a calcium drip, in addition to various other treatments. In the future, we found out that my consultant had gotten the call that evening I was admitted and when told my blood results, she said “they cannot be right, nobody can be living and have those results.”

My consultant wanted a catheter put in for peritoneal dialysis (PD) asap but the anaesthetist kept saying no because I was too ill. I went into hospital on the Friday and my consultant said it was now or never on the Sunday and I went to theatre for the catheter to be put in. I was put straight onto dialysis then for 24 hours for the first few days and was gradually reduced to 11 hours every night. I was in hospital for 5 weeks and during that time my parents were trained to do the dialysis and clean the opening of the skin where the catheter was.

The doctors were trying to figure out why my kidneys had failed. I went through loads of tests and scans and the diagnosis was nephronophthisis. Cysts form in the corticomedullary region of the kidneys. It is a genetic condition and is very rare, occurring in 1 in 922,000 people within the United States. I didn’t want to go into too much detail about the condition, as it can be very confusing but if you’d like to know more about it let me know either in the comments or via a DM.