Every year, change is made at all levels of government to protect and improve the lives of people across the country. However, for the 1 in 10 Americans living with a rare disease, these policies overlook some of the biggest obstacles in their lives.
Based on this statistic, about 670,000 Hoosiers, enough to fill roughly 10 Lucas Oil Stadiums, still face many uphill battles in their care that could be addressed by pertinent legislation.
Our stories as two patients living with rare diseases highlight the urgent need to attend to the barriers faced by the rare-disease community – a need that establishing a rare disease advisory council in Indiana would help address.
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I (Amelia) am 22 years old and have been diagnosed with three different rare diseases stemming from a genetic mutation affecting my collagen.
It took me several years after the onset of my symptoms to get diagnosed, following a lengthy and expensive process of incorrect diagnoses and prescriptions for syndromes I didn’t have. Throughout this time, I was told the health care system was doing all it could for me, yet I spent my days lethargic, in pain and malnourished. I was lucky to get a diagnosis as soon as I did.
Unfortunately, with very limited treatment options, the diagnosis itself was not life-changing.
For the first time, during Rare Disease Week in 2022, I began advocating for myself and other patients like me. Little did I know rare disease was about to take another form in my life. That’s where my sister’s story comes in.
On Feb. 4, 2022, at 21 years old, I (Anneliese) lay in the intensive care unit with machines keeping me alive. Overnight, Guillain-Barré syndrome, a rare autoimmune condition in which the body attacks the nerves causing ascending paralysis, took me from an active Purdue student to a quadriplegic.
The lack of awareness for my condition led to a critical misdiagnosis of growing pains that delayed treatment and allowed my illness to progress, while access barriers forced me to travel across state lines to receive the specialty care I needed.
This is a luxury many patients cannot afford as a result of their insurance policies.
Since my diagnosis, I have become an advocate and realize that while my fellow rare-disease patient advocates each have their unique stories and diagnoses, we have all faced similar challenges.
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Our personal experiences with rare diseases have taught us a lot – and shown us the importance of sharing our stories and making our voices heard on important issues impacting the rare-disease community. This is precisely why we’re supporting House Bill 1201, sponsored by Rep. Cindy Ledbetter, which would establish a rare disease advisory council in Indiana.
Rare disease advisory councils are a collaborative tool for states to identify and address the most pressing barriers that prevent individuals living with rare diseases from obtaining proper treatment and care. If passed, House Bill 1201 would amplify the voices of rare-disease patients, family members, researchers, medical providers and other stakeholders in our state.
Our neighbors in Kentucky, Ohio and Illinois are among 24 states that have already established a rare disease advisory council. It’s time for Indiana to give rare-disease patients a seat at the table.
Working together, we can solve some of the biggest challenges among rare-disease patients today. For example, as our stories illustrate, people living with rare diseases often face long, complicated diagnostic journeys that can leave them with more questions than answers. On average, rare-disease patients spend 6.3 years between symptom onset and official diagnosis.
Once diagnosed, things unfortunately don’t always get easier. Instead, individuals are often left without sufficient treatment options or struggle to get coverage for the care available to them.
In fact, fewer than 10% of all rare diseases have an FDA-approved treatment, and in 2019, 61% of patients seeking FDA-approved treatments for rare disease experienced denials or delays from their health plans.
As individuals who have been diagnosed with, and now manage, rare diseases, we are all too familiar with these struggles. We’re eager to work with other stakeholders to develop solutions for Indiana’s rare-disease community, and we encourage our legislators to be a part of these efforts.
We also know there are many people living with rare diseases who are physically unable to advocate, and we feel passionate about using our stories to give them a voice. For all those affected by a rare disease, from the caregiver to the patient, passing House Bill 1201 and establishing a rare disease advisory council in our state is a critical next step.
