A MOTHER whose little boy has an ultra rare disorder is appealing for support to fund an essential study and says she "doesn't want time to run out" for her son.
Jess Barnes from Patcham was devastated when her son Daniel, now 10, was diagnosed with Alkaptonuria (AKU) at the age of three.
Also known as Black Bone Disease, the very rare inherited disorder turns patients’ bones and cartilage black, causing severe disability as life progresses.
When Daniel was eventually diagnosed in 2013, there were only ten children in the UK known to have AKU.
Jess, 46, said: "A lot of GPs had never heard of the disease as it is so rare. We were told at the time there is no cure.
"That news was heartbreaking and you feel there's nothing you can do, and of course you worry about your child's future.
"Daniel is missing an enzyme which means he can't break down acid.
"As he gets older, the disease would start to attack bones and cartilage and can cause a whole host of problems.
"We were very scared as we just felt like we were on our own with this."
There is now hope for Daniel and other children with AKU as a drug called nitisinone has been approved, which can stop symptoms of the disease developing.
But questions remain about what age children should start taking the drug for it to be effective in preventing the disease from beginning to attack the bones.
Jess has been involved with the AKU Society charity since Daniel's diagnosis, and is now helping to launch an appeal to fund a vital study which could lead to the life-changing treatment being made available before the damage begins.
Jess will voice the AKU Society charity's appeal on BBC Radio 4 this Sunday to boost fundraising for the research.
She said: "Currently, when Daniel turns 16 he would start on this medication.
"The charity is launching the first paediatric study into the disease to find out what age children should start taking the drug, which could stop the disease in its tracks.
"They are hoping to launch it this year but more funding is needed.
"That's why the Radio 4 appeal is so important to me. I don’t want time to run out for my son and for other children like him.”
Chairman of the AKU Society Dr Nick Sireau said: “Knowing when the disease starts to attack people’s bones is vital.
"Armed with this knowledge, we could begin giving children nitisinone early enough for them to grow up without any of the symptoms of this devastating disease."
The appeal will be broadcast on BBC Radio 4 on Sunday at 7.54 am and 9:25pm and repeated on Thursday, May 6 at 3.27pm.
The AKU Society offers life-changing support to patients and their families, as well as important medical research. The charity hopes for a future where no-one born with anywhere in the world with AKU has symptoms of the disease.
To find out more about the AKU Society or to donate, visit www.akusociety.org.
Comments: Our rules
We want our comments to be a lively and valuable part of our community - a place where readers can debate and engage with the most important local issues. The ability to comment on our stories is a privilege, not a right, however, and that privilege may be withdrawn if it is abused or misused.
Please report any comments that break our rules.
Read the rules hereLast Updated:
Report this comment Cancel