Rare Disease Day 29 February 2024 - Illinois Report

Springfield, 7 February 2024 - The Illinois Rare Disease Commission (IRDC) is pleased to announce the release of the Illinois Rare Disease Report 2023, documenting lived experiences of families and individuals with rare disease in Illinois. The comprehensive report sheds light on the challenges and gaps in the management of rare diseases affecting the residents of Illinois.

Rare diseases, also known as orphan diseases, collectively impact an estimated 1.5 million people in Illinois. This groundbreaking report aims to provide a detailed understanding of their impact within the state of Illinois. The report elevates the voices of individuals, families, care providers and researchers.

Key Findings of the Illinois Rare Disease Report 2023:

1. Fragmented Services
The report showcases the burden on families and highlights the gaps in care giving and nursing services. The needs of individuals and families are not unique: Many need access to day care, nursing assistance and palliative care. Over half of Illinoisans are on Medicaid or Medicare. Policymakers have an important responsibility to meet the needs of individuals with are disease on public and private health insurance.

2. Newborn Screening and Diagnostic Odyssey
The report delves into the challenges faced by parents in obtaining timely and accurate diagnoses for rare diseases. It emphasizes the need for improved diagnostics. The Illinois Department of Public Health is challenged to increase provider awareness. Policymakers need to improve insurance coverage for genetic testing, and enable collaboration of healthcare providers to reduce diagnostic delays.

3. Limited Access to Pain Management
Personal stories and insights from individuals living with rare diseases, as well as their families, are woven throughout the report. These narratives document the tragedies and underscore the day-to-day challenges faced by those affected by rare and undiagnosed conditions. Medical gas lighting is common.

4. Pathways to Palliative Care
Patients with rare disease often experience negative outcomes because providers do not refer them for comfort care. Palliative and hospice care are important interventions for individuals and families with diseases that do not have a cure. Gaps and delays in palliative care lead to disastrous and fatal outcomes.

5. Not Every Bruise is Abuse
Allegations of Child Abuse and Neglect (CAN) turn out to be unwarranted in 80 % of reported incidents. Families with rare disease are disproportionately affected. The commission calls for additional education of child abuse and neglect specialists to educate these providers on conditions that mimic child abuse.

The Illinois Rare Disease Commission Chair Maria G. Pollock commented on the significance of the report, stating, "The Illinois Rare Disease Report 2023 is a vital tool for policymakers, healthcare professionals, and the community at large. By understanding the landscape of rare diseases within our state, we can work collaboratively to improve diagnosis, treatment, and support for individuals and families affected by these conditions."

The Illinois Rare Disease Report 2023 will be available for download on the Illinois Department of Public Health website https://dph.illinois.gov/resource-center/advisory-boards/illinois-rare-diseases-commission.html and at http://www.enddenials.org/RareReport23.pdf. For further information or media inquiries regarding the Illinois Rare Disease Report 2023, please contact the Illinois Rare Disease Commission Chair Maria G. Pollock at mariapollock67@gmail.com or (773) 307 5207 and Joan Ehrhardt at joan.ehrhardt@illinois.gov or (217) 782-0843.

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525-535 West Jefferson Street
Springfield, IL  62761
https://dph.illinois.gov/contact-us.html
Joan Ehrhardt
joan.ehrhardt@illinois.gov
217 782 0843

About the Illinois Department of Public Health:
The Illinois Department of Public Health is dedicated to protecting the health and well-being of the residents of Illinois. Through prevention, health promotion, and the assurance of accessible, quality healthcare, the department works to make Illinois a healthier state for all.

This release was published on openPR.