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Rare disease diagnosis should not relegate patients to substandard care

Money and stethoscope to illustrate the cost of health care

How many people worldwide are more aware now than ever of just how important our health is, and how fragile it can become? When the COVID19 pandemic started making news we were curious, when the first stay at home order was issued, we wondered how long?  Two weeks maybe, I can do that.  Now that we are facing the hard fact that there is no quick fix, our lives have taken on the “new normal”, at least until research discovers a vaccine or proven treatment.  Until then, we remain focused on when we can go back to life as we knew it, and everyone is paying attention because it matters to each of us.  Now, imagine if your health was deteriorating and yet, after years of searching and consulting multiple doctors, you could not find answers much less an effective treatment, and the whole world isn’t watching because you have a rare disease?

A disease is considered rare in the United States when it affects less than 200,000 people. However, thirty-million people live with rare diseases nationwide, according to the National Institutes of Health. More people are impacted by rare diseases than cancer and AIDS combined. Amazingly, while 1 in 10 people are affected by a rare disease, on average a person spends 4.8 years searching before they receive an accurate diagnosis.

Cardiac Amyloidosis, sometimes called stiff heart syndrome, is a rare disease that occurs when amyloid deposits take the place of normal heart muscle. Most people with cardiac amyloidosis never receive a proper diagnosis or remain undiagnosed for many years after symptoms become severe and are only diagnosed after seeing multiple specialists. Cardiac Amyloidosis is over-represented among elderly African Americans with severe congestive heart failure. One subtype of cardiac amyloidosis, hereditary ATTR-CM, almost exclusively impacts African Americans and people of African descent. Access to care can be a significant factor in achieving a proper diagnosis and treatment.

Teniqua Broughton

Teniqua Broughton

The State of Black Arizona recently held an event to highlight the medical and policy needs around rare diseases, and cardiac amyloidosis specifically, with participants including policy leaders, medical experts, patients, and community leaders. This event followed the Office of Arizona Governor Doug Ducey issuing a proclamation designating March 2, 2020 as Cardiac Amyloidosis Awareness Day in Arizona.

Dr. Amish Shah, a practicing physician and member of the Arizona House of Representatives, spoke to the limitations and delays to care he has experienced in his medical practice and the ways he has sought to remedy them at the legislature. He lauded the recent efforts around co-pay accumulator and telemedicine as important to the rare disease community and what potentially harmful effects and obstacles to wellness can sometimes occur with programs such as step therapy protocol. Participants expressed concern over their experiences with step-therapy protocols and insurance pre-authorization, as delaying their return to optimum health.

Doctors Julie Rosenthal, Mayo Clinic, and Michelle Mix, Biltmore Cardiology, shared information relative to cardiac amyloidosis and the need for increased awareness, considering the African American community is affected in disproportionate numbers. Dr. Rosenthal brought to light the struggle to properly diagnose and treat Cardiac Amyloidosis, allowing medical providers, patients and community leaders to find a new understanding of the need for treatment and access to care.

The conclusion is clear. Access to care continues to be a problem. The “care” in health care is too often restricted to finding a doctor who can make the correct diagnosis and maneuvering through the insurance restrictions on treatment. If we have learned anything from the COVID19 pandemic, it is that time is not always on our side. Limiting research for better treatments and overly burdensome cost savings techniques prevent the best our science can offer, and it should not be held back or held up when lives are at risk.  Any policy that limits access to care, such as government price setting and decrease in research, hampers the help millions of Americans are desperately seeking. A rare disease diagnosis should not relegate those patients to substandard health care when hope is at hand.

The State of Black Arizona is hopeful the Arizona legislature will focus on legislation that improves the lives of those it serves through eliminating harmful restrictions and protocols, and avoid the unhealthy policies that impede healthier lives for all in our state.

Teniqua Broughton is executive director of The State of Black Arizona.

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