Jessica Barnes

The 12 Days of Christmas Salty Swim

Fundraising for The Alkaptonuria Society
raised of £2,500 target
by 196 supporters
Donations cannot currently be made to this page
The Alkaptonuria Society

Verified by JustGiving

RCN 1101052
We provide crucial information and support to patients living with Black Bone Disease


Starting on CHRISTMAS DAY morning, I will be taking a very chilly plunge and sea swimming my way through the 12 Days of Christmas. I won't be alone, as I'll be joined by a fabulous group of Salty Seabirds - a sea swimming group based in Brighton.

I'm doing this to help raise vital funds for a paediatric study into Alkaptonuria (Black Bone Disease) and a life changing drug called Nitisinone. PLEASE DONATE WHAT YOU CAN!

What is Alkaptonuria?

Six years ago, our eldest son was diagnosed with an incredibly rare disease called Alkaptonuria. Also known as AKU or Black Bone Disease, it is a very rare, painful and crippling degenerative genetic disorder, which can cause significant damage to the bones, cartilage and tissues of those affected. AKU normally affects only one in every 250,000 - 500,000 people worldwide and is caused by a missing enzyme which results in extremely high levels of a toxic chemical called homogentisic acid. This leads to severe early onset osteoarthritis and over time, bones and cartilage turn black and brittle. Patients often require multiple joint replacements and the disease can also cause serious health complications relating to the heart, kidneys, bladder and windpipe.

The Good News!

For the past ten years, studies and clinical trials have been taking place on a drug called Nitisinone. Friends will remember that we were involved in fundraising for the first SOFIA study in 2014 with patients age 16 to 50. More recently a four year clinical trial was concluded, the data was extremely positive and an application for the drug to be licensed is now underway. AKU is now treatable!

Paediatric Study

The SOFIA Paediatric study will tell scientists and doctors at what age AKU starts to attack the joints of children with AKU. This knowledge is life changing.

The AKU Society has partnered with the leading children’s hospitals in the country, including Great Ormond Street, to run a ground-breaking study into AKU in children. Over the course of the study, children will travel to their nearest hospital to be examined to find out what AKU is doing to their bodies and when we can start treatment.

The charity has already raised £70,000 out of the £80,000 needed to start the study and are now so close to beginning the SOFIA
Paediatric study.

What this means to us?

It was an incredibly difficult time for us when our son was first diagnosed, especially when we discovered there was no cure. Nitisinone is life changing for those living with AKU. It is so important to us and other parents with children that have this disease, that we find out the right time to start taking nitisinone so we can prevent the crippling symptoms from developing and ruining lives in the future.

What can you do?

Please DONATE what you can and SHARE this page with FRIENDS
AND FAMILY on social media. AND if you want to JOIN ME, dust off that swimming costume or wet suit and come for a salty SWIM :)

Just £25 will fund a crucially important sample collection. So this Christmas, why not give the gift of a changed future for children with AKU.

Thanks for taking the time to visit our JustGiving page. I will be posting regular updates and photos of each swim. WISH ME LUCK!

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.

About the charity

The Alkaptonuria Society

Verified by JustGiving

RCN 1101052
Transforming the lives of alkaptonuria (AKU) patients and their families, through patient support, community building and medical research. Help us cure the first genetic disease ever discovered by donating today.

Donation summary

Total raised
+ £1,535.00 Gift Aid
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Offline donations

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