Why a talented researcher – but a naive saleswoman – had to resort to #crowdfunding

I went and wrote, go ahead, launch the campaign – unprepared, at the end of July. That said, we ARE going to succeed in raising the money we so desperately need to make concrete things happen in our lab: registering the very many families who have been willing to participate in this research for years now, and processing their biological samples to discover the answers to those questions that just keep coming.

Why do some children with congenital melanocytic nevi (CMN) die of cancer or brain malfunctions? That’s the big one. Far too many of them – and we as yet have no idea what distinguishes their CMN from the other kids who continue to live with the difficult social stigma of looking sometimes very different. A survey and registry, but above all, the biological specimens and comparing their characteristics to our animal models, will help us understand. Our lab is collecting them, but I need personnel to really make it happen.

Therapies might already be on their way because of recent findings as to what genes can be mutated and in what tissues. However, we still don’t know how these genes work during development or how the hyperactive proteins they encode might be counteracted safely. Our research is designed to answer these questions.

The first genes identified were the same ones often mutated in adult-onset melanoma, only before birth and without sun exposure. CMN kids mostly don’t have melanoma – except for those who then do develop melanoma. A vastly greater proportion than among children without CMN. I am aware of two children in the world fighting their CMN-related melanoma as I write you, and those are just the ones I know. It is heartbreaking.

You would think that governments would recognize the potential impact of rare disease research in a condition affecting kids from birth, for understanding and treating a common adult cancer. It’s exceedingly difficult anywhere in the world, to get so-called public funding for a condition that affects a tiny percentage of the population and their caregivers

Therefore, I turn directly to the public. You. Please back this project. Show the world that the number of people affected with a difficult rare condition should not be part of the cost-benefit analysis for worthwhile research.

Look how beautiful people with CMN are! (If you follow this link, click the little boy on the stairs, for a beautiful photo campaign sponsored by Nevus Outreach, Inc. in the U.S.)

My major motivation – one of those lovely teens with CMN is my daughter. Another motivation – another one of those lovely teens had a piece of her brain removed a few years ago, to control her CMN-related epilepsy by removing the pigmented area. Another motivation – any of those lovely teens sometimes feels uncomfortably different from everyone around her, and that’s outside of spending time in the hospital, which they all have.

Look soon for a video introduction to my research group, and interests, and perhaps some more motivations.

Thank you so much for your interest and support.

About Heather

That French-American biomed researcher again.
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2 Responses to Why a talented researcher – but a naive saleswoman – had to resort to #crowdfunding

  1. Bravo! All the best with this very worthy cause… and to your daughter, who I hope will not be among those unfortunate enough to contract melanoma.

    You (and she) are very brave to put this very personal relationship with CMN in the public eye, and perhaps even braver to take on this crowd funded initiative. Perhaps it might encourage you to know that a colleague of mine was recently funded by a Ewing’s Sarcoma association – an entirely grassroots initiative supporting another very rare disease. There are other stories too: here in Canada, the IGNITE orphan disease project, for one.

    Good luck Heather. Once I am back in front if a sensible internet connection, I will surely send a few Euros your way.

  2. Heather says:

    Your encouragement is worth more than gold (or even euros, as if today) to me. Thank you so much! I love hearing about the success stories. A clinical trial is also underway in the UK for alkaptonuria (black bone disease) after a successful IndieGogo campaign. Your supportive remarks were perfectly timed.

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