Patients pay to investigate rare diseases

The feelings of isolation and helplessness associated with rare diseases are experienced by over 3 million families in Spain.

Patients and their family members have no choice but to fundraise for research into rare diseases. A classified so-called ‘rare disease’ affects one in every 2,000 people in Spain according to the University of Granada’s Biomedical Research Centre. 

Relatives of patients with rare diseases have found that the only way for their voices to be heard by government, pharmaceuticals and researchers is through self and charitable funding. Throughout the last decade, charitable associations and organisations have played an increasingly crucial role in helping to raise funds and make rare diseases more visible in the public sphere. Associations provide support networks for families, fundraising initiatives and help in lobbying for political backing to raise awareness. 

Despite increasingly consistent support from external organisations, there still remains a lack of financial backing from European Union funds or the Ministry of Health in Spain for research into rare diseases. 

Ignacio J. Molina, a Professor and Researcher from the University of Granada’s Biomedical Research Centre, bid for almost 120,000 euros to research new ways to treat patients with the rare disease, Ataxia-Telangiectasia.

The disease Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. This disorder is characterised by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5.

Funding for the research was awarded through a UK based charity called Action for A-T, that funds vital research into Ataxia-Telangiectasia.

The support from charities and associations for rare disease research goes beyond financial backing, says Molina. Charities bring networks of families together and connect them to vital research laboratories.

The professor went on to explain: "In rare diseases, we need closeness to patients and their families, which is difficult because of the circumstances. The construction of networks is something that is facilitated by many charities and associations, is something that is as vital as economic funds." He went on to emphasise that connecting a group of patients together is almost impossible without the networks family members, supported by charities and other organisations.

Spain’s Federation of Rare Diseases (FRD). 

Jordi Cruz, chair of the Catalan section for the FRD and the director of the Society for Mucopolysaccharide Diseases (MPS) explains that: "The path to research and knowledge into the approximately 7,000 categorised rare diseases in Spain is often paved directly by families or patient charities. Initially, funds are raised through local charity concerts, or through raffles and other philanthropic activities. It is the awareness-raising from these activities that eventually brings backing from larger companies or organisations.” 

As treatment-related research is now well underway, MPS must focus on another vital area requiring funds. "Improving living conditions and supporting patients and their carers are absolutely necessary as the public system barely covers this area," Cruz commented.

The Dravet Syndrome Foundation, another charity that focuses on raising funds to support research into the rare disease Dravet syndrome, has raised between three and four million euros in just under a decade, says its president, José Ángel Aibar. Like many charities and foundations, The Dravet Syndrome Foundation is multifaceted in its work. They have a "family respite" programme to help those who need to travel to receive treatment and focuses significant efforts on raising awareness about this rare condition. 

Rare disease charities and associations are primarily made up of volunteers but operate on a business-like professional basis. The Dravet Syndrome Foundation, for example, has a research director who coordinates the work of the charity to ensure that it functions as efficiently and cost-effectively as possible.

The work of patients and their families, charities and associations supporting rare disease research is absolutely vital in order to continue to rare awareness of the importance of treatment and prevention research. Many of these diseases would continue to go primarily unnoticed without the relentless work of these charitable organisations. 

Katie Burt

Katie Burt

When not found with a laptop at my fingertips, it's likely I'll be running, swimming, attempting to cycle or seeking out decent coffee.

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