Parents Play a Vital Role in the Struggle Against Rare Disease

The number of identified rare diseases continues to climb every year, with the number recently reaching the 11,000+ mark. Some of them have only a handful of identified cases, and the conventional process of drug research, development, and the overall pharma business approach is strongly at odds with addressing these underserved patients. But these challenges only make the family members of rare patients more dedicated and determined.

These dedicated parents are on a mission to not only improve or save the lives of their own kin, but also future generations. In this story, we profile three different families impacted by a rare disease. Instead of giving in to despair, these parents chose to take the challenge head-on and have made major progress.

Ford Parks

Effie and Casey Parks were immediately concerned when their son Ford was born seven years ago. He was underweight and had trouble swallowing and feeding. However, doctors were totally dismissive of their concerns. It took four months before doctors took their pleas seriously enough to hospitalize Ford. Unfortunately, this visit was inconclusive, and it would be another year before they learned that Ford had a rare disorder called CTNNB1 syndrome.

Effie sought to make a difference as an advocate and be a voice for rare disease families. She launched a rare disease-focused podcast called Once Upon a Gene and has been publishing weekly episodes since October 2019.

Tony Graglia

Mike Graglia’s son Tony was born with a rare disorder called SynGAP1 syndrome and he sought to learn as much as he could about it. He soon became connected to a small corps of cutting-edge researchers that were studying the disorder and as well as dedicated parent advocates. Mike and his wife Ashley, who is a partner at a venture capital firm, put their heads together to start their own non-profit: the SynGAP Research Fund.

With the establishment of this organization, SynGAP1 research has received a huge boost in funding and has progressed in leaps and bounds. Patient Worthy is honored to be in partnership with SynGAP Research Fund. 

Rose McPherson

Musician Casey McPherson has had a difficult history with his family; both his father and brother both died of suicide, which drove him to as a board member for the Austin Child Guidance Center and Mental Health Texas. His daughter Rose was diagnosed with a genetic disorder caused by a mutation affecting the HNRNPH2 gene. 

The disorder caused major impacts like autism, intellectual disability, and seizures. Casey and his wife struggled for a long time to get the correct diagnosis. Eventually he got into contact with other rare parents and started the To Cure a Rose Foundation.

To learn more about these stories, click here.

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