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Rare Disease Day: How research offers hope to those living with rare diseases

Nicola Whitehill

For Nicola Whitehill, who has a condition she has described as a “tin man body wrapped in barbed wire and dipped in concrete”, every day is a battle.

Nicola, who has the debilitating rare autoimmune condition scleroderma, was initially given 15 months to live when she was diagnosed back in 1997. As someone who was working hard to become a barrister, the news was devastating.

Twenty-three years on, she is still here. This is due, in no small part, to research.

A participant in several research trials and a Research Champion who gives her time to help others learn about research, Nicola has her scleroderma clinicians at the Royal Free NHS Foundation Trust to thank for keeping her alive.

She said: “I’m eternally grateful to Professor Chris Denton and his team at the Royal Free. His attitude and commitment to his patients has inspired me to keep going.”

Scleroderma is a condition in which the immune system attacks the body. Healthy tissue is destroyed because the immune system mistakenly thinks it’s a foreign substance or infection.

While the condition mainly affects the skin, changing its texture and appearance due to increased production of a connective tissue component called collagen, it can also affect the blood vessels, kidneys, muscles, heart, digestive system and lungs.

“When I was diagnosed, I was taking lots of powerful drugs to suppress my immune system, but they had side-effects themselves,” explained Nicola. “It was a case of taking the drugs, undergoing chemotherapy and a possible stem cell transplant, and hoping for the best, really.”

Twelve months on from her diagnosis, she discovered the scleroderma unit at the Royal Free and Professor Denton’s team, further to many recommendations about this world-leading trailblazer and his medical research programmes.

Thanks to this new knowledge, she has taken part in several studies and advised on the design of numerous others. Research provides her, and others living with other rare diseases, with a precious commodity.

“Research gives me hope,” she said. “Hope that the desperately needed understanding as to cause and cure will be discovered.”

Professor Denton said: "Scleroderma is a condition that can have a severe impact on many organs in the body and can limit patients' ability to go about their day-to-day lives. Research into rare diseases, like scleroderma, will help us understand much more about these conditions and how to treat them, giving those affected the best chance at living a long and fulfilling life." 

There remains no cure for scleroderma, but research has helped to improve patient prognosis, particularly if the condition is diagnosed early. In the UK, 19,000 people live with scleroderma, and there are 2.5 million worldwide.

Nicola, who lives in Southport, Merseyside, was able to complete her barrister training, though she is now a full-time research advocate. She is still cared for by Professor Denton’s team at the Royal Free and maintains her own blog on life with scleroderma.

One in 17 people will be affected by a rare disease at some point in their lives. This amounts to 3.5 million people in the UK and 30 million people across Europe. The majority have no effective treatment.
In Europe, the European Union defines a disease or condition as rare if it affects fewer than 1 in 2,000 people within the general population.

Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives.

To find out about rare disease studies taking place in your area, visit the Be Part of Research website.