Rare Disease Day 2018 – Collaborative efforts towards individual goals


rare disease dayThe last day in February is Rare Disease Day. Like other awareness days, it’s an opportunity to draw attention to patients, healthcare needs, research progress, and the funding needed to make it all happen.

What sets Rare Disease Day apart from other disease awareness days is that it represents not just one single group of diseases, but a very large number of often vastly different conditions, each having just a small number of patients. All of them are part of the rare disease community, but their individual needs are diverse.

 

Collaboration is key

This year, several people used Rare Disease Day to focus on the need to work together. Not just between all the different rare diseases, but between patients, families, clinicians, researchers and funders.

The World Health Organisation released a statement emphasizing the importance of collaboration when it comes to rare diseases. “Fragmented disease knowledge makes it critical that investments in research go hand-in-hand with investments in dedicated infrastructure and international networks such as biobanks, registries and networks of expertise.”

 

Chorus of voices

On Rare Disease Day, many local newspapers run stories of people in their own communities who are affected by a rare disease. For example, this year, Norfolk media featured a local teenager who is affected by McArdle’s disease, and the newspaper of Iowa State University interviewed one of their students with Ehlers-Danlos syndrome.

A local focus helps put a face to the cause – especially since most rare diseases affect so few people that they do not have a celebrity spokesperson as more common conditions have. There are a few famous names who support rare disease research, though. Former UK Prime Minister David Cameron described in The Times this week how the loss of his own child to Ohtahara syndrome in 2009 influenced his support of genomic medicine. He pointed out that today genomic screening allows children with his son’s condition to be diagnosed much quicker, and receive treatment sooner. Considering most rare diseases have a genetic origin, this has broad implications for the rare disease community.

 

Rare disease research benefits non-rare diseases

Investing in rare disease research doesn’t just benefit rare disease patients. We’ve mentioned this before, but it bears repeating. In a post on the BMC blog On Biology, Silvia De Rubeis highlights how the study of rare genetic diseases associated with autism (such as Phelan-McDermid syndrome or DDX3X syndrome) informs autism research in general. Rare disease research has broad implications.

 

Broad approach for many unique cases

The hallmark of this group of conditions is that they’re all different

Rare Disease Day is a good opportunity to bring the whole rare disease community together to draw attention to their collective challenges, and amplify their voices. But the hallmark of this group of conditions is that they’re all different. Getting broad support for expanding diagnostic opportunities or access to support networks is a shared cause, but when it comes to treatment, each rare disease is unique.

For example, clinical trials for rare diseases can’t be lumped together. As Ricki Lewis wrote on PLOS’ DNA Science blog,  “While rare disease umbrella organizations are enormously helpful in sharing information and strategies, funding clinical trials is a different matter.” You need large numbers for a clinical trial, and that’s a challenge when there are only a few affected individuals.

But even those issues are shared in some form or other by all rare diseases. And Rare Disease day is a good reminder that we can put collaborative effort into broad solutions for very specific problems.

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