As the president of the Purdue University Chapter of NORD Students for Rare, and a patient living with multiple rare disorders, Behnaz Akbari has cultivated a profound personal and professional passion for advancing the rare disease community. She explains how her dual perspective as a patient and a researcher drives her commitment to design impactful projects of the future, that focus on orphan products and diagnostic tools for rare disorders

Written by Behnaz Akbari, president, Purdue University Chapter of NORD Students for Rare

The rare disease diagnosis that lit a spark

In 2017, I was diagnosed with a rare lymph-node-based disorder that was initially misdiagnosed as cancer. Although not cancer, the disease behaved similarly, causing distress for me and my family. No-one could pinpoint the cause of my swollen lymph nodes or the persistent infection circulating in my body. I was debilitated by high fevers that would briefly subside only to return, leaving me unable to perform even simple tasks. This was especially challenging because I was planning to leave my home country to pursue PhD studies abroad, but my plans were abruptly halted.

I was finally diagnosed with a rare disorder by a wonderful oncologist in Iran following a surgical biopsy. 

As I managed the physical and emotional pain, I realised how little accessible information existed about my condition compared to cancer or other similar diseases. Despite poring over extensive materials, I could not find straightforward resources about my condition.

After nearly six years, my journey led me to the National Organization for Rare Disorders (NORD). Upon graduating from Boston University School of Medicine in 2022, I connected with Dr Janet Sherman (MD, MA), board-certified diagnostic radiologist and fellowship trained in Magnetic Resonance Imaging. Her guidance helped me to better understand rare disorders and fuelled my ongoing learning in the field. I had the privilege of attending NORD’s Rare Diseases and Orphan Products Breakthrough Summit® in Washington, D.C., in 2023 and 2024, where I presented Dr Sherman’s research in a way that was accessible to multiple stakeholders. This experience deepened my understanding of rare disorders and strengthened my connections with scientists, research foundations and patient advocates. It also inspired me to align my ideas with patients’ stories and to shape my future as a chemist. 

As time passed, new symptoms relating to another rare disorder emerged, further reinforcing my empathy for patients and my drive to address the gaps in rare disease research and care. These experiences ultimately led me to establish the Rare Disorders Chapter at Purdue University. This initiative aims to empower students and the public to engage with the rare disease community and drive progress in this often-overlooked area of healthcare. 

Purdue University Chapter of NORD Students for Rare

Student chapters are more than just clubs—they are vehicles for driving awareness, fostering innovation and inspiring a new generation of advocates and researchers. They provide a unique opportunity for students to engage in impactful work and grow as leaders. 

The Purdue University Chapter of NORD Students for Rare is actively engaged in raising awareness through a variety of initiatives:

• Educational seminars and symposia: The chapter organises events featuring experts in the field to discuss challenges and advancements related to rare diseases. 

• Fundraising: In October 2024, the chapter successfully raised over $400 through a global crowdfunding project titled “Raising Awareness for Rare Disorders,” conducted under the Purdue for Life Foundation. These funds support the ongoing awareness and educational activities. 
• Collaborations with nonprofits: The chapter collaborates with organisations such as The United Leukodystrophy Foundation (ULF) to advance support for the leukodystrophy community, demonstrating a commitment to building partnerships that enhance outreach and impact.
• Patient advocacy: Through storytelling, the chapter highlights the personal impact of rare disorders and lived experience, such as a mother who shared the story of her daughter affected by Phelan-McDermid syndrome (PMS) at one of our events. 
• Participation in university events: Members actively participate in campus events, such as the B-Involved Fair, to engage with the student body, promote their mission and recruit new members interested in advocating for rare disease awareness. Usually, our chapter is selected in the community service/leadership/social action category.
• Research: The chapter encourages student involvement in research related to rare disorders, providing networking, internships, volunteering and research opportunities.

The importance of advocacy

Advocating for rare disorders is essential to create awareness, build understanding and foster support for individuals and families. Rare disorders often go unnoticed in broader healthcare and societal conversations, leading to delays in diagnosis, lack of research funding and limited access to treatments.

Encouraging students to advocate for rare disorders equips them with leadership skills. As future scientists, healthcare providers, policymakers and community leaders, students play a crucial role in advancing research and implementing policies.

Rare disorders often receive less funding for research due to their limited patient populations. Thus, public advocacy highlights the importance of investing in research for orphan diseases, which can lead to breakthroughs that benefit both rare and common conditions. Advocacy can influence policymakers to allocate resources for research, improve access to diagnostic tools and treatments, and support legislative efforts that prioritise the needs of this community. 

Advocacy ensures that the voices of individuals with rare disorders are heard. Sharing patient stories humanises the challenges faced and underscores the need for systemic change. Advocacy efforts create a sense of solidarity, letting individuals and families affected by rare disorders know they are not alone.

The future for Behnaz and the student chapter

On a personal level, I would like to explore how I can integrate chemistry into undiagnosed or misdiagnosed conditions when the sample size is very small; how I can make a difference through our small student chapter. While our chapter mission is to be influential, advocate for patients and educate, my ultimate goal as a chemist is to truly understand the biological mechanisms, clinical testing, and the chemistry of genes, and to translate that understanding into actionable health plans. 

I value the opportunity to hear from and interact with patients because the more we listen to their experiences, the deeper our understanding of the body’s reactions and mechanisms becomes.

Listening to patients ensures that our work remains grounded in their lived experiences, ultimately leading to better science and more effective solutions.

For the student chapter, given that symptoms of many diseases often overlap, research and educational collaboration is a key. We aim to secure sponsorship from global partners to support meaningful research initiatives at Purdue and to host an international academic symposium dedicated to advocating for rare disorders. Also, creating online courses about rare disorders further broadens access to education. These courses can simplify complex ideas, empowering patients, families and the public with knowledge that makes a tangible societal impact. We would like to invite esteemed professors, experts and scientists from across the world to collaborate with our student chapter. Our aim is to connect our diverse members with global opportunities. 

NORD’s Rare Diseases and Orphan Products Breakthrough Summit® was a significant investment in networking and offered a glimpse into the real-world intersection of science and patient experiences. It highlighted the powerful role research plays in addressing unmet medical needs. Inspired by this interaction, I am determined to build robust and credible research in the future that can eventually be presented at congresses—advocating for better diagnosis and treatment options for diseases that are often misdiagnosed or undiagnosed.

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