Hi, my name is Karen and I am fundraising for my beautiful, funny, kind granddaughter Violet . At just six years old in 2024 Violet was diagnosed with PKAN, a devastating and rare life limiting neurodegenerative disease for which there is currently no cure.

Violet is bravely taking part in a drug trial at Great Ormond Street that could give her precious time. We are fundraising to cover potential medical costs not available on the NHS, travel expenses, as well as to support Violet‘s quality of life. Every donation big or small will help bring hope and brighter days for Violet.

Violet first began falling over often and her right hand and arm didn’t move how it should . An MRI scan revealed the devastating diagnosis. PKAN slowly robs children of their ability to walk, talk, eat, see, and live independently. Violet‘s eyesight is already beginning to deteriorate. There is currently no cure. Violet’s genetic make up means her symptoms are still relatively mild, and we are holding onto hope that her progression will be slower-giving us precious time while researchers work to find a treatment.

Why we are fundraising.

Violet has been accepted into a drug trial at Great Ormond Street hospital that could help slow or even halt the progression of the disease. We are raising funds to cover the costs involved as well as medical needs not met through the NHS, if promising treatments become available abroad we want to be in a position to access them quickly. We would also like to enrich her life whilst she’s well.

About Violet

Violet is a beautiful kind sunny soul who charms everyone she meets. She is a loving big sister to brother Casper. She deserves the chance to live her life to the fullest and we will do everything we can to give her a chance. Violet wants to be a scientist when she grows up. She wants to help other people who are less fortunate than herself.

Every donation big or small will help us on this journey.

We are deeply grateful for your kindness and support.

More about PKAN.

PKAN (Pantothenate Kinase-associated Neurodegeneration) is a very rare neurological disease, affecting around one in 1 million people worldwide. It is an inherited, recessive genetic disorder-meaning both parents must carry a copy of the faulty gene. It’s very rare so it’s very unlikely they will know they carry the gene.

People with PKAN cannot produce a chemical needed to metabolise vitamin B5 in the brain. Without normal levels of this metabolite, parts of the brain start to degenerate, causing severe problems with walking, vision, speech and swallowing.

Common symptoms include muscle stiffness, dystonia which is painful involuntary muscle contractions causing twisting movements and abnormal postures, night blindness and loss of peripheral vision. Awareness and intelligence are not affected, which makes the suffering particularly cruel.

In children PKAN is especially unkind, dystonia can cause extreme pain and even fractures. Many children sadly do not survive into adulthood, and those who do often lose their independence early. Currently there is no cure. However, research is ongoing worldwide including gene therapy studies in the USA and drug trials at Great Ormond Street Hospital which Violet is bravely taking part in. These offer hope of slowing progression, easing suffering, and giving precious time to children like Violet.