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My son Max was diagnosed in February of this year with a rare genetic condition of cystinosis. There is no known cure. Research into a cure is funded by charitable donations.

The problem in cystinosis is an increase in many parts of the body of a natural chemical, an amino acid called cystine. This build up causes cystine crystals to form in many organs of the body.  These crystals form firstly in the kidneys and the eyes, and later in the muscles, pancreas, thyroid gland and white blood cells.

As well as problems with the kidneys and the eyes, later it can affect the pancreas (causing diabetes), lead to an underactive thyroid, and cause muscle wasting.  There are other organs and systems which can sometimes be involved.

Kidneys:
Following an event free pregnancy and birth families notice that their young infant experiences excessive thirst and urination, as well as vomiting, difficulty feeding and poor growth (this is often described as failure to thrive).  The GP will refer to a paediatrician, who sends the family to a kidney doctor ( a nephrologist), who suspects a Fanconi Syndrome.  The Fanconi Syndrome means the kidneys do not properly absorb vitamins, various salts and minerals.  This often leads to a diagnosis of cystinosis.

Without specific treatment, most children with cystinosis will later develop kidney failure before the age of ten requiring dialysis or a kidney transplant.
 
Eyes:
The build-up of crystals can make the eyes sore, sensitive to light and gives the feeling that grit or dust has got into the eyes.  Vision can become blurred or hazy.
 
Muscles and Bones:
The kidney problem (Fanconi Syndrome) can cause a softening or weakening of the bones, otherwise known as rickets.

Accumulation of cystine can also cause weakness and wasting of the muscles.  When this happens in the throat, there can be swallowing and feeding difficulties, and in the chest, the lungs can be affected causing breathing difficulty.

Max is a very brave little boy who is remarkably happy for a child with such a condition as this. 

Please give what you can. Many thanks

Rod

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