My Health Stuff

I suffer from Cystinosis, here's a bit about it, and how it affects my life:-

What is Cystinosis?

Cystinosis is an inherited metabolic disorder, which basically means that I can't get rid of an amino acid called "cystine", as the transport system that normal people have, is defective in cystinotics. This means that cystine builds up in the body, and forms into crytals, which damage the body over time. Usually, the first signs of damage appear in the kidneys and the eyes, but the kidneys are the main organs which are affected very quickly by the build up of cystine. Usually the kidneys stop working at the age of around 9/10, but in my case, and the case of other cystinotics, this was much later (I was 25 before my kidneys stopped working). When this happens, and the kidneys are not working properly (they are are only functioning at about 10%), end stage renal failure occurs.

What is Kidney Disease/End Stage Renal Failure?

The kidneys are very important major organs, essential to sustaining life. They not only get rid of waste products in our blood, but also control water and salt balance, levels of acid in the body, and hormones. When you have kidney disease, this means your kidneys have become damaged, there are many causes of kidney disease, in my case it was cystinosis. You can live with damaged kidneys, as long as they still function enough to allow you to live. Generally, you can live quite happily with about 20% of your kidney function (or at least I could anyway), when it starts slipping below this, you start finding more and more problems such as tiredness, nausea etc. When you get to 10% you really need to prepare for dialysis/transplantation, and when you get below 9%, to the 8% mark, treatment becomes essential for life. Untreated, end stage renal failure will kill someone in just a few weeks, maybe less.

Is there a cure for Kidney Disease?

Sadly not, you can take tablets to help you, until you reach end stage renal failure, but then you will need dialysis (artificially cleaning the blood) or a kidney transplant (a healthy kidney is placed inside your body to take over the work of the damaged kidneys).

Is there a cure for Cystinosis?

No, not yet. Cystinotics need to take a drug called Cystagon (or a similar drug) to get rid of the cystine for them. This drug will need to be taken for life.