Rare Disease Patients Deserve Better Protection

The Spokesman-Review
Feb. 26, 2022 Updated Sun., Feb. 27, 2022 at 2:10 p.m.
By Mary McDirmid

Mary McDirmid is a rare disease mom and caregiver; she lives in Spokane.

For the estimated 750,000 rare disease patients in Washington state, the term “diagnostic odyssey,” is an unfortunate daily reality. Families with children can wait up to seven years and see as many as eight different doctors before receiving an accurate rare disease diagnosis. Rare conditions affect 30 million Americans, half of whom are children. Of those children, 1 in 3 will not live to see their fifth birthday. Diagnostic delays are just one example of the gaps in our health care system that can have a devastating impact on families managing rare disease. Lawmakers and patients now have an opportunity to collaborate on the passage of landmark legislation – both locally and nationally – to address rare patients’ most urgent, unmet needs.

I am proud to support Senate Bill 5886, to implement a Rare Disease Advisory Council, sponsored by our own Sen. Jeff Holy, which would advise the governor, state agencies and Legislature on, among other things, the diagnosis of rare diseases. The more time that passes without an accurate diagnosis, the more severe a disease becomes. Often, the damage is irreversible, negatively impacting a patient’s health care trajectory throughout their lifetime.

Compensating for gaps in health care access sometimes comes down to making sure our state has foundational information about how families are impacted by rare diseases. During the 2019-20 legislative session in Olympia, a bill that would have expanded insurance coverage options for rare patients and their families failed to progress when the state’s Medicaid authority was unable to calculate how many patients would be impacted. A state advisory council would provide more granular data about the breadth of needs for the rare community in our state and enable future legislative efforts that seek to improve health care access.

Another way to prevent unnecessary and potentially irreversible disease progression is by enhancing our state’s newborn screening program. Newborn screening is an essential public health intervention that identifies newborns with certain genetic, metabolic, hormonal or functional disorders by analyzing a small drop of blood taken from the heel of an infant after birth.

The implementation of a state advisory council will ensure issues important to rare disease patients, like newborn screening enhancement, remain front and center for our local government moving forward. Additional partnership at the federal level could boost our local commitment by providing more resources for states trying to improve their local health care infrastructure to support rare patients.

The Newborn Screening Saves Lives Reauthorization Act, currently stalled in Congress, would assist states in improving and expanding their own screening programs, support parent and provider education, improve laboratory facilities and facilitate the addition of newborn screenings to the federally recommended panel. Without this support, access to newborn screenings will remain a patchwork across the 50 states. Families shouldn’t be at the mercy of the geography in which their infant is born.

Last year in Idaho two parents had to resuscitate their son when he was a month old. Crucially, he had not received a spinal muscular atrophy screening at birth since it was not included in Idaho’s newborn screening panel at the time. After being screened, and diagnosed, he began receiving appropriate treatment two weeks later. Today, at 11 months old, he can now move his arms and suck on his fingers, but he still doesn’t sit or hold his head like most children his age. Had he been born in Washington state, a diagnosis would have occurred as part of a routine newborn screening, and immediate therapeutic intervention could have improved early outcomes along his medical journey.

It’s up to the House Health Care and Wellness Committee to take action now on Senate Bill 5886 in Olympia, and locally we’re bringing awareness to these important issues at Spokane’s annual Rare Disease Day Event in partnership with Washington State University on Monday, but with additional federal partnership from Washington, D.C., we can keep fighting to ensure children born anywhere in the U.S. have consistent access to the care and treatment they deserve.

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