Rare Disease Report

More Moms Advocating for Rare Diseases: Monica Weldon, Debra Miller, and Lisa Schill

MAY 06, 2016
Ruth J Hickman, MD
All mothers of children with rare diseases fight to advocate for their children. In honor of Mother’s Day, we recognize 3 such women: Monica Weldon of Bridge the Gap, Debra Miller of CureDuchenne, and Lisa Schill of RASopathies Network USA. Each mother is using their personal skill sets to advance rare disease research in different ways but with the same goal – find a treatment for their child.

Monica Weldon (SYNGAP 1)

In 2012, Monica Weldon’s infant son, Beckett, began displaying developmental delay and other symptoms. After many tests and specialists, he was diagnosed with a rare disorder called SYNGAP 1. At this time, little is known about the condition, but the disorder is caused by a mutation in the gene that codes the SYNGAP1 protein. Patients have intellectual disability and developmental delay, and many also have epilepsy and autistic symptoms. 
Monica began a blog about the diagnosis and experience, helping to build a support group of parents and caregivers. In 2014, Monica worked with some other parents to found the first organization centered around SYNGAP mutations. The mother of five is now the president of Bridge the Gap--Syngap Education and Research Foundation, working to foster research and bring together patients, researchers, and clinicians. She recently announced she will retiring as a teacher to pursue this advocacy work full-time.
In a piece written for Rare Disease Report, Monica shares her feelings about her journey: “My experience has made me a better parent and advocate to a child who has taught me more about life than I ever could have imagined. I have found a new inner strength for myself, my family, my son. It has opened doors to meeting new families like mine and given me a new appreciation for life in general.”  

Debra Miller (Duchenne)

Debra Miller is the co-founder of CureDuchenne, a nonprofit advocacy group dedicated to finding a cure for Duchenne muscular dystrophy (DMD). DMD leads to progressive muscle weakness causing inability to walk and death from complications in a patient’s late teens or twenties. She founded the organization with her husband, Paul Miller, in 2003 after their son was diagnosed. Leaving behind her prior career in publishing, Debra became President and CEO of CureDuchenne.
There are currently no treatments approved for DMD, though researchers have developed many new potential therapies in recent years. Debra is driven in her work, not just to benefit her own son, but to bring hope to a whole generation of boys who need these treatments now. To move the science along more quickly, Debra also helped establish a for profit entity, CureDuchenne Ventures, which supports research through a venture philanthropy model providing early funding to biotech companies and some academic researchers.
An  interview with Rare Disease Report, Debra explained why such an approach makes sense. “There really is not enough money within the Duchenne community to fund a cure . . .  We realized we had to look outside the Duchenne community to fund this research. If we can accelerate these treatments now, it’s going to mean a world of difference to these families.”

Lisa Schill (Noonan Syndrome)

Lisa Schill is a parent advocate and mother of a child with Noonan syndrome, Max. She is Vice President of the RASopathies Network, a nonprofit group dedicated to advancing research in a group of related conditions, the RASopathies. These conditions, which include Noonan syndrome, are caused by mutations in genes involved in the RAS/mitogen-activated protein kinase pathway. Children with Noonan syndrome have heart malformations, developmental delay, and other problems.
Much of Lisa’s focus is on legislative matters that will impact the entire rare disease community. Fortunately, she has in her family, one of the best rare disease advocates we know – her son Max who has been instrumental in raising awareness of various legislative matters, including the OPEN ACT.
In a piece for Rare Disease Report, Lisa wrote, “Never be afraid to write your Senators and Congressmen. Explain to them what it is like to live with a rare disease--and ask for more research funding.”
In addition to her legislative advocacy work, Lisa works with Global Genes and other organizations to help others in the community.  And this weekend, she will take part in the Network’s Million Dollar Bike Ride to raise funds for a research grant. The RASopathies Network is partnering with the University of Pennsylvania’s Orphan Drug Center to make the event possible. In an interview with RDR, Lisa explains how the funds will be used, “There are no treatments for the RASopathies, but there are small molecules out there that have been studied but need to be studied more, so we’re looking for people to take the time to invest in them.”

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