By Carolina Sommer / For The Herald
I am a mother of a child with a rare disease who has undergone surgeries her entire life, yet is one of the strongest people I know.
I’ve dedicated my life to creating structural changes in our health care system that will help our family and the 750,000 other Washingtonians who are affected by rare diseases. My daughter deserves the exact same level of care as every other child.
The Washington state Legislature must pass both House Bill 1079 and Senate Bill 5097 in the 2024 legislative session. Both bills address crucially important needs and would lead to earlier, more accurate diagnoses, better treatment, greater coordination and a stronger voice for the rare disease community in health care policy decision-making processes.
Many rare disease patients experience the “diagnostic odyssey,” a multi-year journey where a patient is simply trying to get a clear and definitive diagnosis of their disease. The average length of diagnostic odyssey is seven years, during which patients frequently miss important treatment milestones because of the lack of comprehensive diagnostic options. This can result in extended, unnecessary hospital stays.
HB 1079 would help to create a coverage pathway for rapid Whole Genome Sequencing (rWGS) for low-income families with critically ill, undiagnosed children under the age of 1. When a patient cannot be diagnosed through conventional testing means, rWGS enables doctors to analyze a patient’s genome and provide a diagnosis with expediency and accuracy. A California-based rWGS pilot program, “Project Baby Bear” has already produced the outcomes we expect to see with the passage of HB 1079. Those outcomes include fewer days spent in the hospital, reductions in major surgeries and invasive tests, millions of dollars in health care savings, and preventing thousands of dollars in out-of-pocket costs for patients.
The first five years of my daughter’s life were marked by frequent hospital visits and long hospital stays. I’m striving for a future where all families can experience some peace of mind with quick and accurate diagnoses.
SB 5097 would create a rare disease advisory council in Washington state to address other serious needs of the rare disease community revolving around the organization of resources, coordination between clinicians, education for patients and medical practitioners, and broader representation in state government. A permanent rare disease advisory council would work with the Legislature on issues concerning rare disease families, and provide a consistent, patient-informed voice in the policymaking process. The council would be comprised of patients, caregivers, clinicians, researchers and other rare disease experts.
As a longtime advocate, I know firsthand how difficult it can be to get access to policy makers, let alone influence legislative outcomes. A council on rare diseases would amplify the powerful, passionate, and knowledgeable voices in our community.
When rare disease families’ voices are heard, lawmakers will create better health care policies and outcomes for rare disease patients. And at its core, this bill is about engaging lawmakers to create a more just, more equitable health care delivery system. As outcomes improve for rare disease patients, they will also improve for other patients with unique needs that remain unaddressed by the current system.
Individual diseases may be rare, but they impact so many families and caregivers. My family knows this as well as anyone. I strongly urge the legislature to pass HB 1079 and SB 5097. Both bills address serious health care access concerns in the rare disease community and have the potential to save countless lives around our state.
Carolina Sommer is the founder of Born a Hero Rare Disease Research Foundation and the NW Rare Disease Coalition. She lives in Snohomish.
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