A crucial part of our social impact bond (SIB) project is developing an understanding of the costs of rare diseases. Because the SIB is based on saving money for the NHS, our cost of illness modelling estimates the current financial cost of specific rare diseases in the healthcare system, and how much could be saved by a repurposed drug. However, the financial burden of rare diseases is not borne by the NHS alone. Living with a rare disease is hugely costly to patients, as well as to their family. Furthermore, rare diseases also impose a cost on other government departments, whether through welfare payments or educational support.

We’re keen to understand these costs at BM Manifesto as they can have a big influence on our SIB project, as well as the work of patient groups. Providing new effective treatments for rare diseases should reduce costs to patients and the government alike. This provides another crucial argument to promote rare disease research and could also provide a new source of savings to fuel BM Manifesto’s social impact bond. Due to this we’ve been running patient focus groups alongside our cost of illness modelling, to try and get a better understanding of the cost of rare diseases to patients financially, emotionally, and socially.

For all of the diseases we’ve investigated so far, loss of work has been reported by all. This takes many forms. In some cases it is characterised simply by the need for rare disease parents to use the majority of their annual holiday allowance to take their children to a multitude of medical appointments. Often parents of young patients are forced to give up work entirely in order to care for their children full-time. Adult patients themselves can have similar problems in securing leave for medical appointments. They can struggle to secure work or be forced into early retirement by their illness. This loss of work really reshapes lives. While it obviously carries a financial burden to families, it also has an emotional cost – patients, often with a huge desire to work and a huge amount to give, are excluded from the working world. In many cases this cost ultimately helps to fuel the growth of rare disease patient groups and advocacy, as skilled and motivated individuals dedicate time to help others with their condition. Regardless, the impact should not be ignored.

Outside of the working world the costs of rare diseases are diverse. Almost all patients can incur high additional transport costs, whether simply through having to visit specialist centres many miles from home, or due to disease symptoms limiting their mobility day to day. Families and patients often pay for specialist support or over the counter treatments for their illness – vitamin supplements, basic medication, and alternative therapies can all prove crucial to patients, but present a clear financial burden. Many disease also necessitate modifications to the home or car. These are costly changes, which may be supported by grants, but access to such finance is never simple.

A non-financial cost that I had never fully appreciated before beginning this project was impact of rare diseases on schooling. Even relatively simple requirements, like blood-glucose monitoring, can prove very hard for schools to provide. Parents can spend months interacting with schools in an attempt to secure the training required for teachers and support staff to manage needs of their children. During this time children can miss many days of schooling, or parents may be forced to spend large amounts of time in school supporting their own child’s education.

While the costs of rare diseases are undoubtedly high, it is important to say that for every negative experience, we have always found a positive one. The work done by patient groups and support staff in the NHS to help patients bear the costs of treatment is often exceptional, while some parents have had hugely positive experiences with the schools that their children attend. There is clearly an increasing awareness of the burden of rare diseases to patients, but a lack of uniformity in the patient experience. This is a key challenge to address, alongside the delivery of many more treatments to patients, which will act to limit or halt the impact of these diseases for everyone. This is something that we hope to address, as we begin to increase our focus on the societal cost of rare diseases in our modelling.

If you like to learn more about Findcure’s social impact bond project and cost of illness models you can contact our scientific officer Rick by emailing rick@breastfeedingmanifesto.org.uk.