Meet Jared, an aspiring science fiction writer who is living with thymidine kinase 2 deficiency (TK2d)—an ultra-rare and progressive mitochondrial disease that leads to muscle weakness, breathing difficulties and seizures, among other symptoms. Diagnosed at just two and a half years old, Jared relies on daily supportive care to manage symptoms like breathing, mobility and communication difficulties. And like many patients with rare disease, he struggles with mental health issues due to the challenges from living with a debilitating disease.  

Jared is Not Alone: The Rare Disease Burden is not so Rare
Jared's story is a reminder that the burden of rare diseases is more common than one might think. Individuals with rare diseases, like Jared, often face daily obstacles in accessing necessary treatments and care. In fact, over 30 million Americans live with a rare disease¹, and a staggering 95% of these conditions lack approved therapies.²

Access to care is further complicated by geographic, demographic, and socioeconomic factors. For example, half of rural patients travel over an hour for care, and 30% of rare disease patients delayed care last year due to financial constraints.³ Disparities are pronounced, with one in four black, indigenous or people of color (BIPOC) patients delaying or skipping care due to basic resource shortages, compared to one in ten non-BIPOC patients.⁴ The economic impact is equally significant, with delayed diagnoses and treatment interruptions driving costs higher, and healthcare expenses increasingly shifted to patients through rising premiums and deductibles from payers.⁵

Outlining Actionable and Realistic Policy Solutions
In an effort to address unmet need in these areas, we convened a panel of experts in our community to discuss potential solutions for rare disease patients. The result of this panel was recently published in the Aspire4Rare report, which underscores the importance of finding solutions to expand equitable access for individuals with rare and severe diseases. The report highlights actionable policy solutions and proposed measures developed in collaboration with a consortium of rare disease experts, including:

•  Alleviating the shortage of genetic specialists by addressing licensure requirements and telehealth service coverage;
• Expanding coverage decisions by addressing evidence gaps with strengthened post-market surveillance feedback loops;
• Restoring and enhancing incentives to develop rare disease treatments.

Additionally, there are steps outlined within the report that the health industry can take to reduce the economic burden:
 

• Improving cost analysis approaches and implementing flexible payment models;
• Implementing peer-to-peer review processes involving true medical peers;
• Ensuring patients have continuous access to rare disease treatments by reforming utilization management, step therapy, and prior authorization.

UCB’s Commitment to Changing the Rare Disease Landscape
Despite his daily challenges, Jared is leading a fulfilling life as an aspiring science fiction writer with a master's degree in Quantum Mechanics. He emphasizes that TK2d does not define him and has pursued higher education, nurtured friendships, and celebrated family milestones like his brother's wedding.

Jared’s story is why UCB focuses on the whole person, not just the patient, in our efforts to innovate and advocate for those with rare diseases.  We have a longstanding commitment to innovation and creating value for those with the greatest needs. For example, we have hosted several patient insights panels to hear feedback from people impacted by rare, neurological, and immunological diseases to help us keep their whole journey beyond the medicine in mind. Additionally, we strive for equitable access to our medicines, with numerous patients enrolled in our rare disease support programs and active participation in diverse clinical trials.

By learning from patients and caregivers like Jared, we develop innovative solutions tailored to specific patient populations so that we are able to tackle unmet needs beyond just medicines.

References

1. The Promise of Precision Medicine: Rare Diseases. National Institutes of Health; n.d. https://www.nih.gov/about-nih/what-we-do/nih-turning-discovery-into-health/promise-precision-medicine/rare-diseases. Accessed January 2025.
2.  The landscape for rare diseases in 2024. Lancet Glob Health. 2024;12(3):e341. doi:10.1016/S2214-109X(24)00056-1. https://www.thelancet.com/journals/langlo/article/PIIS2214-109X(24)00056-1/fulltext#:~:text=Around%2080%25%20of%20rare%20diseases,people%20living%20with%20rare%20diseases. Accessed January 2025.
3. A4R report
4. A4R report
5. EveryLife Foundation for Rare Diseases. Groundbreaking Study Reveals Staggering Economic Toll of Delayed Rare Disease Diagnosis. 2022. https://everylifefoundation.org/delayed-diagnosis-study/. Accessed January 2025.