Thanks for taking the time to visit my JustGiving page.

As you'll see from the photo, I'm training hard.

I'm involved because my son Robert has Alkaptonuria (AKU). It is a rare genetically inherited disorder which causes Arthritic symptoms in adult life (see  http://www.akusociety.org/index.html for more info)

I'll try not to embarrass Rob too much (having said that, what are parents for?).  From 2 days old, we noticed his urine stained brown but no one could tell us why. 

It was not until Rob was 5 years old that a supportive paediatrician at Ealing Hospital referred him to Great Ormond Street Hospital where the now retired Prof Leonard diagnosed AKU. He explained the consequences; AKU can be both painful and debilitating. No treatment was identified other than to manage his protein intake and ensure plenty of Vit C. 

Because the condition is so rare, there was a lack of knowledge more widely within the medical profession (ironic because it was one of the first genetically inherited metabolic disorders ever identified - by Archibald Garrod in 1908). This has meant late diagnosis, or none at all, making the condition and its consequences much harder to manage.

Thanks to Prof Leonard, a diagnosis for Robert (now 22) came relatively early in his life. That made some preventative action possible and also enabled him to benefit from the first concerted research programme to tackle the condition.  

The AKU Society was founded to disseminate knowledge about the condition, support suffers and raise funds for research. All of this was driven by a small and very committed group of people (sufferers and parents) to whom I express heartfelt thanks. 

Thanks to their initiative and the subsequent work of the dedicated medical and support team, significant strides have been taken in tackling the condition.  

The founders of the charity, and those before them, had to face life with AKU pretty much on their own. Your donation will help ensure that future generations won't be on their own and will help to find a cure.

Thank you.

Richard and Katharine Churcher

(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.)