Rare Disease Report: 3 Moms Advocating for Rare Diseases
May 8, 2016
It is hard for most of us to imagine the physical, mental, and emotional challenges of dealing with a diagnosis of a rare, debilitating disease in our child. Yet most parents of these children manage rise above these challenges, making strides in advocacy that have impacts far beyond the lives of their particular children. In honor of Mother’s Day, here are the stories of three such women: Christine McSherry of the Jett Foundation, Melissa Hogan of Saving Case & Friends, and Jill Wood of Jonah’s Just Begun.
Christine McSherry and the Jett Foundation
In 2001, Christine McSherry and her husband Stephen learned that their five-year-old son, Jett, had Duchenne muscular dystrophy (DMD). The disorder leads to progressive muscle weakness causing inability to walk and typically death from complications in a patient’s late teens or twenties.
Though devastated by the news, Christine and Stephen established the Jett Foundation out of Kingston, MA. The Jett Foundation is dedicated to funding research to cure DMD. Then and now, there is no cure for DMD, and no treatment currently approved in the US, though researchers have developed many potential new drug therapies in recent years.
Formerly a registered nurse, Christine is now the Executive Director of the Jett Foundation, which has raised millions of dollars to support DMD research. She has been active in lobbying the FDA to approve new treatments for DMD that have shown promising, if not totally conclusive clinical data.
In an interview with the Boston Globe, Christine said, “Jett was born for a reason. This is the reason I became a nurse. And this is why God gave me the voice to speak.” She and other members of the continue to work toward the goal of improving the lives of people with DMD.
Last week, Christine testified before the FDA Advisory Community that is reviewing eteplirsen. And in an interview with Rare Disease Report, Christine describes how that drug has improved the life of her son. You can watch a clip from that interview below.
Melissa Hogan and Saving Case & Friends
In 2009, Melissa and Chris Hogan’s two-year-old son was diagnosed with Hunter syndrome (MPS II). Hunter syndrome is a devastating rare disorder causing severe cognitive regression as well as physical problems like organ damage and breathing difficulties.
Melissa shifted her focus from her work as an attorney to becoming an advocate for the Hunter community. In 2011 she began a blog, SavingCase.com, to share information about Hunter syndrome and support families. Its following spread to over 100 countries. In 2014, Saving Case & Friends incorporated as a nonprofit. The organization is promoting Project Alive to raise awareness and funds for Hunter disease research.
In addition to being President of Saving Case & Friends, Melissa is a Patient Representative for the Food and Drug Administration, a coordinator of the Hunter Syndrome Research Coalition, a board member on several rare disease organizations, and a writer for Rare Disease Report. The depths of her feelings can be heard in a song she wrote, “Alive,” which focuses on her son’s battle with the disease.
Recently, Melissa wrote about the song for us. You can read that blog here.
Jill Wood and Jonah’s Just Begun
In 2010, at 22 months old, Jill Wood’s son Jonah was diagnosed with the rare disease Sanfilippo Syndrome type C. These patients are born lacking an enzyme to break down a specific molecule in the body. Though born normally, eventually patients can no longer walk, eat, or breathe on their own. But Jonah’s geneticist told Jill and her husband, Jeremy Weishaar, that this didn’t necessarily mean a death sentence, that current scientific advancements held out hope for these children.
Jill took her love for her child used it to fuel her work. A few weeks later, Jill established Jonah’s Just Begun with her husband with an aim to cure Sanfilippo syndrome. The organization has two goals: “To drive the science that will ultimately lead to a cure, and to raise awareness for all rare diseases.” Jill also helped cofound Phoenix Nest, Inc, a biotech company seeking treatments for Sanfilippo syndrome. Jill blogs about her personal experience as a mother, advocate, and citizen scientist, connecting to others through her personal story.
In the video clip below, Jill talks about the origins of Phoenix Next.
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