A Brighton mum is appealing for help for a drug trial which could vastly improve her four-year-old son’s life.
Jess Barnes’ son Daniel suffers from alkaptonuria, also known as AKU or black bone disease.
Although his only symptoms now are dark-coloured urine, in adulthood the condition causes bone deterioration, crippling back and joint pain, and in time, heart problems.
Daniel, who lives with his mum and dad Dave in Patcham, has been taking part in a trial for a new treatment, nitisinone, which it’s hoped could combat the build-up of acid in the body which causes the disease.
Now, researchers have launched a fundraising drive for a second stage of the trial to compare how the disease develops in young and adult patients so treatment can be targeted most effectively.
Miss Barnes said: “When Daniel was first diagnosed, we were absolutely devastated. I was terrified of what the future could hold – Daniel’s life could be over before it had even started.
“When we were told there was no help available, it was awful. It’s the last thing you want to hear, that your son’s got a rare disease and there’s no cure.
“The first thing you do is Google it, and all sort of awful images come up. But then we were introduced to the AKU Society, and we spoke to its CEO Nick Sireau, whose children have also been diagnosed with it.
“And now, the results of the first trial have been really positive – it’s like a light at the end of a tunnel.”
Nitisinone was originally developed as a weedkiller but during toxicity testing it was revealed that it blocked the breakdown of amino acid, called tyrosine, which plays a crucial role in the development of black bone disease.
The second phase of the study needs funding to bring patients from all across Europe together.
To support it, please click here.
