Eloise is a 14 year old girl. She has a rare disease that causes bone and joint inflammation, swelling, stiffness and pain. The name of the disease doesn’t matter, but the impact it has on Eloise does.

On the 27th February 2017, Eloise’s mother was attending an open night organised by the Cambridge Rare Disease Network in conjunction with the NIHR Rare Diseases Translational Research Collaboration. The meeting was convened to celebrate the 10th anniversary of Rare Disease Day and to connect patients with scientists and doctors who care for patients with rare diseases.

Eloise’s mother asked how she could inspire researchers to work on her daughter’s disease. The answer was to find people working in the field and meet with them. During the networking session, she met Jagtar Singh Nijjar, a clinical lecturer and rheumatology trainee working in the Department of Medicine. Given that Eloise’s disease affects her joints, Jagtar was the right person to meet. The result of their discussions has been the creation of the first national cohort that will recruit people with SAPHO and CNO, the disease that Eloise has.

The ImPaHCS cohort will allow Jagtar and his colleagues to understand more about the clinical and genetic basis of the disease. In addition, by gathering patients together, we will provide a framework in which clinical trials can be run to generate evidence that may inform the care of patients with rare diseases.
None of this would have been possible without a chance meeting between a mother who wanted care for her daughter, and a clinical researcher with an interest in the disease.