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Rod Mckend avatar
Rod Mckend

Movember for Max

We are dispensing with the razor for November for Cystinosis Foundation UK because funds are needed to find a cure for Cystinosis

268 %
£13,414
raised of £5,000 target
by 302 supporters
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  • Team members: Martin Ramsay, Adam, Lee Cranston, Eddie Scott, Simon, Michael Stubbs, Roger Plewes, Adam Marley, Gordon Brooks
  • Event: Movember for Max

Cystinosis Foundation UK

TO PROVIDE SUPPORT TO ANYONE DIAGNOSED WITH CYSTINOSIS, AS WELL AS THEIR FAMILIES AND FRIENDS. TO HIGHLIGHT THE DISORDER TO MEMBERS, THE MEDICAL PROFESSION AND THE WIDER COMMUNITY. TO ASSIST IN THE PROMOTION OF RESEARCH INTO THE TREATMENT OF CYSTINOSIS. TO WORK ALONGSIDE OTHER SIMILAR ORGANISATIONS IN UNDERSTANDING MORE ABOUT METABOLIC DISORDERS IN GENERAL

Charity Registration No. 1074885

Story

Thanks for taking the time to visit my JustGiving page.

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

Donating through JustGiving is simple, fast and totally secure. Your details are safe with JustGiving - they'll never sell them on or send unwanted emails. Once you donate, they'll send your money directly to the charity. So it's the most efficient way to donate - saving time and cutting costs for the charity.

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