Joshua Barnfather British businessman with xeroderma pigmentosum and angiosarcoma Date of Birth: 01.01.1988 Country: Great Britain

1. Joshua Barnfather: The Entrepreneur with a 'Vampire' Lifestyle
2. Living with Xeroderma Pigmentosum
3. Pembrolizumab: A Ray of Hope
4. Angiosarcoma and Pembrolizumab
5. Treatment Outlook
6. Access to Pembrolizumab
7. Xeroderma Pigmentosum (XP)

Joshua Barnfather: The Entrepreneur with a 'Vampire' Lifestyle

Joshua Barnfather was diagnosed with XP at 18 months old, a rare genetic condition that affects only about 100 people in the UK. The condition leaves sufferers unable to repair UV damage in their skin, meaning they need to wear protective clothing and avoid sunlight as much as possible.

Living with Xeroderma Pigmentosum

Despite his precautions, Barnfather has had multiple skin cancers and, in February 2017, was diagnosed with angiosarcoma, a cancer of the blood vessels. The cancer has since spread throughout his face, lymph nodes, bones, and lungs. Barnfather is now desperately trying to raise £100,000 for a treatment not available on the NHS that could extend his life.

Pembrolizumab: A Ray of Hope

Experts believe that pembrolizumab, an immunotherapy drug, could work for Barnfather due to his unique presentation caused by XP. However, the drug is not available on the NHS and costs around £100,000 per year. Donations will help to cover the cost of the drug and associated care.

Angiosarcoma and Pembrolizumab

Angiosarcoma, which has a five-year survival rate of just 40%, has been shown to respond to pembrolizumab. One study found that 54% of patients treated with pembrolizumab lived beyond their expected one-year survival rate, with the results described as "remarkable."

Treatment Outlook

While there is limited data on the effectiveness of pembrolizumab in patients with XP and angiosarcoma, 83% of XP patients treated with pembrolizumab for squamous cell skin cancer survived beyond one year. Experts had previously suggested that angiosarcoma is rarely associated with XP, and pembrolizumab was only available for adults with advanced lung cancer that had not responded to other treatments.

Access to Pembrolizumab

In June 2017, the National Institute for Health and Care Excellence (NICE) recommended that the NHS make pembrolizumab more widely available. However, it is still largely only used for lung cancer patients. Until recently, the drug cost around £84,000 per patient. However, in June 2017, the NHS struck a deal with MSD, the pharmaceutical company that makes the drug, to streamline the reimbursement process.

Xeroderma Pigmentosum (XP)

XP is a rare inherited condition that causes extreme sensitivity to sunlight and UV radiation. Caused by a genetic mutation, it affects around 1 in a million people, according to dermatologists, although other estimates suggest a rate of 1 in 250,000. Sufferers need complete sun protection, including clothing, sunscreen, and dark sunglasses. 80-90% of sufferers also experience joint pain, cognitive impairment, and dental abnormalities. Skin cancer is very common in XP patients due to the increased risk of sunburn. XP is not curable, and sufferers need regular checkups with a dermatologist to remove cancerous growths as they appear.