Trends in Rare Diseases. Why the “Ice Bucket Challenge” is a Cold Dash of Temporary Relief

Out of 14 different titles, Elsevier’s Cell Press has no Trends in Rare Diseases.

To be fair, there are some rare diseases mentioned in some of the existing journals. Trends in Parasitology covers diseases that are not rare at all, but are still not trendy – anyone you know affected by schistosomiasis? Nonetheless, literature on rare diseases is scarce in those parts of the world where people can casually dump ice and potable water over their heads and laugh at themselves on video.

Rare diseases are difficult to lump together. Depending on your definition of “rare” (it generally refers to a pathology affecting fewer than one person out of 2,000 or so), there are approximately seven thousand different medical conditions to consider. New entities are discovered all the time.

No wonder you haven’t heard of most of them.

Peter Frates, who along with the now sadly deceased Corey Griffinlaunched this summer’s coolest trend, will be suffering mightily from ALS by now. Pete once played professional baseball, like Lou Gehrig, who had the same disease. You have at least now heard of amyotrophic lateral sclerosis (ALS). The ice bucket challenge to raise awareness about ALS, a rare, adult-onset neurological disorder, is of some genuine benefit to people affected with any rare disease.

Matt Luke also once played professional baseball. For 11 years, he batted for the New York Yankees, the Anaheim Angels, the Cleveland Indians or the L.A. Dodgers. For more years than that, he was taunted and his parents feared for his life. Matt had a giant congenital melanocytic naevus (CMN) on his face.

One out of 20 children born with a giant CMN, sometimes called CMN syndrome, develop debilitating neurological symptoms or malignant melanoma. They can die from either. Matt underwent many reconstructive surgeries, and thereafter was subjected to snap judgements (the brilliantly original “Scarface”, among others).

Not only is he a survivor, but he is a hero to other children born with the same malformation: like Didier Montalvo from Columbia, known to much of the English-speaking world as “Turtle Boy” (in part through a Channel 4 documentary). The French Olympic medallist swimmer, Gregory Mallet, born with a large CMN on his hand and now with larger scars on his back at his graft donor sites, is also a role model.

“When people ask, I tell them I was mauled by a shark,” he laughs.

Why should you care? Because one in 20 of us is affected with a rare disease of some kind. That is, more than three million people in the UK.

Of course we biomedical scientists and our families are affected, too. This gets to be a uniquely motivating factor in wanting to redirect our research expertise into diseases that suddenly matter much, much more.

How does one reconcile such extraordinary motivation with the worldwide lack of governmental investment into most of these diseases? Or with the assertion by William MacAskill that one charity’s success takes away fromanother’s; that public goodwill is not a product of “people thinking carefully” but instead “rewarding and incentivising good marketing rather than good work” (implying that, under it all, rare diseases are not objectively the best investment for charity money)?

The World Health Organization reminds us:

The European Commission is increasingly supporting collaborative initiatives focused on research into treatments and drugs for rare diseases, but lack of funding continues to be an issue.

Governments invest in research into those medical conditions or basic scientific questions that interest the most voters. Witness the backlashwhen they invest more broadly. And scientists are increasingly held accountable to society.

So what happens if society doesn’t care one whit about a given rare disease?

Some doctors and scientists, and I among them, have recently turned to crowdfunding to bootstrap new projects for rare diseases. We hope to demonstrate their ultimate interest for not only those citizens affected directly by a given condition, but for society at large.

Dr Cath Ennis wrote in this column:

… a crowdfunded project can be perfect for early-career researchers, pilot studies, research ideas outside the mainstream, and other niches. These projects can provide the crucial preliminary data required by mainstream funding agencies, to demonstrate the validity of the approach and the idea, and thereby have the potential to launch much larger studies. One high-impact paper in a new area can even initiate a whole new sub-field, magnifying the influence of any individual donor’s money.

To cure “black bone disease” (alkaptonuria), Dr Nick Sureau spearheaded a recent and successful effort to raise over £58,000, using the IndieGogo crowdfunding platform. Among other uses, the money will be used to gather 140 ultra-rare patients from around the world. They will participate in a second clinical trial of nitisinone, currently under way in Liverpool, Paris (France) and Piestany (Slovakia).

Excellent research on giant CMN is taking place at Great Ormond Street Hospital (GOSH) in London, and has been nearly exclusively supported by Caring Matters Now, a UK-based charity that raises money through more traditional fundraisers like a dinner dance in London, this coming 20 September. However, rare disease research is obliged to be international.

My own laboratory in France, to supplement patient association contributions from around Europe and North America, has decided to crowdfund a complementary research project on children born with giant CMN.

We are accepting donations right now.

Support from the public will be used to gather and perform studies on naevus tissues and patient data in a distinct European population. A small portion will be set aside to allow other rare disease research projects to find their own “knowledge angels” on the same crowdfunding platform. Ultimately, our’s and a handful of other centres worldwide, including GOSH, will contribute data to a global CMN patient registry.

You can show off your individual style of altruism, or you can keep it discreet. Be splashy, if you like. Quieter donors can be equally, if not even more effective. The US-based National Organization for Rare Disorders says it best:

Alone, we are rare. Together, we are strong.

Heather Etchevers is a tenured developmental biologist with the French National Institute of Health and Medical Research (INSERM) and an advocate for Naevus Global. Find her on Twitter @Etche_homo

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