This Wednesday, iBIO and our members joined Illinois rare disease patients and their families in Springfield to raise awareness of rare diseases as part of Rare Disease Day.

Patients and their families met with Illinois lawmakers to raise awareness about rare diseases and their impact on patients’ lives. Rare Disease Day in Springfield was coordinated by Illinois Rare Action Network.

Although individually any rare disease affects fewer than 200,000, as a collective, there are nearly 7,000 rare diseases afflict as many as 30 million people in the US, 15 million of which are children. Or another way to look at it, 1 in 10 Americans are suffering from rare diseases. Many rare diseases result in premature death of infants & young children or are fatal in early adulthood, 95% of rare diseases are without an FDA approved treatment or therapy. Even getting a diagnosis can be a struggle, patients are often misdiagnosed or undiagnosed.

Some 80% of an estimated 7,000 rare diseases involve a genetic component. Precision medicine takes advantage of these genetic components to tailor treatments to those patients most likely to respond. Rather than administering therapies based solely on the disease, new strategies to identify biomarkers help select the best therapies for individual patients.

Senator Sara Feigenholtz (Center), Maria Bellefeuille, Rare IL (Left), John Conrad, CEO iBIO (Right)

As part of Rare Disease Day in Springfield, iBIO and the patient community honored Senator Sara Feigenholtz for her leadership in passing HB 2259 Rare Disease EXPERRT bill.

New, innovative treatments provide a significant, durable benefit and value for patient health outcomes, delivery of care, and overall healthcare spending. These therapies are aimed at serious and rare diseases where patients often have limited treatment options. Examples of transformative therapies include cellular and gene therapies, which are truly personalized medicines that target treatment to specific patient populations or subsets of patient populations. These innovative drugs and Biologics have the potential to transform the treatment of rare diseases, but patient access will be at risk until existing reimbursement pathways are updated to reflect the fast pace of innovation.

HB2259 serves to provide additional expertise and insight during the Medicaid review process if Medicaid proposes to limit access to medicines more restrictive than the FDA label providing for a more robust review of uncommon disease-states as novel products and therapies enter the marketplace.

Thank you to Senator Sara Feigenholtz for her leadership in introducing this important patient-focused legislation.