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Charity partner news

Cambridge charity launches crowdfunding campaign to raise £30,000 for the first global AKU registry.

Cambridge-based charity, the AKU Society, has launched a campaign to fund a vital patient registry to help patients worldwide with the ultra-rare disease Alkaptonuria (AKU) access the care and support they deserve.

Also known as Black Bone Disease, AKU turns patients’ bones and cartilage black, causing severe disability as life progresses. This is due to a missing enzyme that causes the body to accumulate a substance called homogentisic acid at 2,000 times the normal rate.

The money raised, £30,000, will establish a global database of AKU patients across the globe to assist governments and medical professionals in getting treatments to patients – along with researchers working to find an ultimate cure for the disease.

CEO and Chair of the AKU Society Dr Nick Sireau said: ‘This is a crucially important project to make a significant difference to the lives of AKU patients around the world. We will be gathering information that will enable us to make the case for access to treatment in many different countries. Please support our campaign and share widely!’

The five-week appeal launched on Tuesday 9th November to 14th December and is hosted on https://chuffed.org/project/theakusociety where you can donate. For other ways to give, please email info@akusociety.org.

About Alkaptonuria (AKU)

Alkaptonuria, also known as Black Bone Disease, was the first identified genetic disease. It causes a build-up of homogentisic acid in the body that binds to patients’ bones, cartilage, and other tissues, turning them black and brittle. This leads to a variety of life-changing disabilities. Patients develop early onset osteoarthritis, which can destroy every joint in the body. One patient describes how “it feels as if your bones are wrapped in barbed wire.” The immobilising nature of the disease can lead to social isolation, unemployment, and chronic pain. Heart disease can also form because of the hardening of tissue in the heart valves.

About the AKU Society

Founded in 2003, the AKU Society offers life-changing support to patients and their families. It provides patients with personalised care and home visits, along with the latest information from specialist workshops, a new website, social media and online patient communities. The AKU Society sees a future where no-one born with AKU anywhere in the world has the symptoms of this disease. Through patient support, community building and medical research, the AKU Society aims to transform the lives of AKU patients.

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