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Rare Advocates

Publication date: 22 Aug 2020

Every child is born with aspirations of growing up and enjoying a full range of positive life experiences.  It is understandably devastating for parents to learn of anything that may cause their child to fall short of traditional expectations.  Consequently, a child with a rare disease can motivate parents to take extraordinary actions to tackle the challenges head-on, and not simply succumb to despair.  Inspired by genuine progress on the scientific front, some parents are founding their own disease-specific advocacy organizations to bridge institutional barriers separating researchers, medical practitioners, drug companies, government agencies and rare disease families to better the lives of those affected.  Leveraging social media savvy, crowdfunding, and the recruitment of prominent experts and supporters, such organizations are prodding the medical establishment to double-down on efforts to understand specific, somewhat obscure diseases, and to find elusive cures. 

The following are a few examples of rare disease advocacy organizations founded by highly motivated parents:

  • Grace Science Foundation.  Matt Wilsey, a Silicon Valley entrepreneur, became a rare disease advocate when his daughter, Grace, was born with NGLY1 deficiency.  This extremely rare disorder is caused by genetic mutations resulting in a deficiency of an enzyme known as N-Glycanase 1, resulting in cognitive impairments, liver dysfunction and motor defects.  Together with his wife, Kristen, they founded Grace Science Foundation.  The foundation has recruited prominent supporters to the cause and funded targeted research efforts.  Matt co-founded a company, Grace Technology, LLC dedicated to finding a cure.  In doing so, he hopes to change the way genetic science helps to identify and treat hereditary disorders.

  • Foundation for USP7 Related Diseases.  Bo Bigelow, a writer and attorney, became a rare disease advocate when his daughter, Tess, was born with a USP7 mutation, a genetic condition associated with neurodevelopmental issues.  He produced a short film about the search for a cure, leading to the co-founding of the Disorder, Rare Disease Film Festival to promote broader awareness of rare diseases.  Together with his wife, Kate, a physician, they started the Foundation for USP7 Related Diseases, which seeks to identify more patients and support research towards a cure.

  • MEPAN Foundation.  For Danny and Nikki Miller, a years long search for a cause of developmental delays for their two sons, Carson and Chase, led to a diagnosis of MEPAN Syndrome through the NIH-sponsored Undiagnosed Diseases Network.  Since the diagnosis, Danny leveraged his work experience in public relations and marketing to become a tireless advocate for his boys through starting the MEPAN Foundation, which strives to build awareness and support research towards improving the lives of MEPAN patients and those with similar mitochondrial diseases.  

  • CureGRIN.  Canadian journalist, Keith McArthur and his wife, Laura, recently produced the podcast series Unlocking Bryson’s Brain, describing a family’s odyssey in coping with their son’s GRIN1 diagnosis.  The GRIN genetic disorders affect a neuroreceptor known as NMDA that plays a key role in a variety of cognitive and developmental functions.  CureGRIN, co-founded by Keith McArthur, seeks to promote research towards life-improving therapies and a cure.  

Passionate, and seemingly willing to move mountains on behalf of their children and others like them, such families have fully dedicated their lives to their cause.  Each has stepped up to connect with other families and to become highly articulate spokespersons for patients.  They have built networks to unite families, researchers and clinicians to forge a new path forward.  They have raised funds through crowdfunding or generous sponsors, and gone public to shed light on the battle to conquer severe, but relatively unknown illnesses.  Prominent scientists and thought leaders are recruited to the cause where possible.  

Even with such commitment, the path towards success is a long haul with no guarantees.  Despite steady progress in understanding the cause of such disorders, there have been no immediate cures.  In some cases, the exact genetic mutation is known, and while there even exists the means to correct the error, the technology to do this at therapeutic levels is still elusive and evolving.  Yet, each step forward continues to inspire greater hope.

What about the thousands of rare diseases without such inspired leaders and support?  Realistically, it may not be feasible to copy this focused advocacy approach for each one.  Where will support come from?

Recognizing the importance of mutual support and that rare disease patients are not alone, a broad-based model such as that offered by RareShare can be a starting point.  With nearly 1,000 disease-specific communities, each can be a focal point for connecting patients, caregivers and researchers to share information about the disorder and ways to improve the lives of those affected.  The involvement of disease-specific organizations is welcome as well.  The collective approach allows the platform to address common issues of concern to all rare disease patients, while the individual disease communities allow targeted discussions of topics relevant to patients with specific diseases.  To enhance its effectiveness, the platform seeks to recruit more members and to encourage active participation.  If you’re a current RareShare member, please encourage others to join your community and engage with them.  If you’re not a member, and would like to learn more about a specific rare disorder or have important information to share, please join in the effort to improve patients’ lives.