Why It's Possible to Fight for Your Child's Rare Disease Treatment
The National Organization for Rare Disease (NORD) estimates that one in every 10 Americans is diagnosed with a rare disease. Together, this adds up to nearly 30 million people, which when holding hands could circle the globe one and a half times.
For Amber Olsen, a mother and business owner in the small town of Ocean Springs, MS, the reality of a rare disease has not only been felt right in her own home, but has connected her globally to a movement to save the lives of children.
In 2015, Amber’s daughter Willow Cannan was diagnosed with the terminal genetic condition, multiple sulfatase deficiency (MSD). This condition leaves a person without the normal enzyme activity that filters out the the natural waste by-product created by each cell within the body. The waste builds up over time, in effect clogging systems like the brain, muscles, eyes, and others, and preventing them from working properly. Children with MSD do not usually live to see their 10th birthday, as their entire body starts to shut down with built up waste product.
“They told us there was nothing we could do,” recalls Olsen. “Just go home and be with your daughter.”
Having an entrepreneurial spirit, a business mind, and a mother’s determination, Olsen immediately went to work learning as much as she could about Willow’s condition — the science behind it, and any possible way forward.
This led her to start the first ever foundation for MSD in the United States, The United MSD Foundation. She began collaborating with scientists, doctors, and other parents to connect the existing research to the patients suffering from MSD, and their families fighting to save them. The United MSD Foundation is currently the only patient advocacy group registered with NORD in the entire state of Mississippi.
The United MSD Foundation has been instrumental in connecting families of this rare disease to one another via social media –advocating for awareness in the medical community and driving forward the research that will lead to viable clinical treatment for the disease.
Olsen’s persistence has connected her with department heads at the National Institutes of Health (NIH) and researchers at the best hospitals across the nation. She’s even had discussions with the US Food and Drug Administration (FDA) about the process of bringing treatment to trial.
The disease process is well studied and understood, and with recent medical advances in gene therapy, the reality of treatment is finally achievable. “Scientists told me if I had three million dollars, I would have a treatment for Willow in 18 months” says Olsen.
Now, over 500 days later, she continues to fight with as much tenacity as she had on day one, despite her own daughter’s decline. Her fight, which began on the gulf coast for one sweet girl, is now so much more. It’s a movement giving hope to families and children touched by MSD across the globe.
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Getty Images photo via Sasiistock