By Siwaar Abouhala, BA
The rare disease space is driven by two main types of investigators: (1) research scientists with graduate degrees and post-doctoral training aimed at scientific innovation, and (2) citizen scientists such as parents and caregivers who have developed expertise through personal experiences with rare disease navigation. I was introduced to the latter group, “citizen scientists”, through my role as a Clinical Research Coordinator at the Rare Genomes Project, a remote study based at the Broad Institute of MIT and Harvard that strives to provide genetic diagnoses to undiagnosed rare disease patients across the United States (US). Through my everyday job as a source of human connection for newly enrolled individuals, I witnessed the socioemotional and psychological toll that rare disease plays in the lives of families across the country. From self-advocacy in clinical settings to dedicating hundreds of hours to personal research online, patients and allies are often forced to become the experts of rare and ultra-rare diseases.
Halfway through my time at the Broad Institute, I picked up a book that would set this rare disease landscape into perspective. Amy Dockser Marcus's We the Scientists: How a Daring Team of Parents and Doctors Forged a New Path for Medicine tells the story of how rare disease parents of children with Niemann-Pick disease type C (NPC), a progressive and fatal genetic disease, collaborate with medical providers and researchers to help their kids and future kids like them. These parents turned into “citizen scientists”, often sitting with Food and Drug Administration (FDA) officials and physician-scientists to co-design clinical trials and protocols for NPC treatments – their efforts would later result in the founding of Global Genes.
In describing the pivotal role these parents played in the drug development and therapeutic process, Marcus shares a story she came across in her scientific journalism training. In this tale, two men – one blind and one sighted – are discussing what a chapel looks like. The sighted man realizes that drawing a chapel together might help the blind man envision its architectural structure. He sits next to him, puts his hand against his on a piece of paper, and together they hold a pen and draw a chapel. In the end, however, the blind man reminds him of a key element in chapels: “Don’t forget the people.” Every time he passes by a chapel, while he cannot see its physical designs, he hears the voices of people inside – talking, laughing, signing, all in community.
Citizen scientists can play the role of the blind man in this story – they remind traditional researchers of the people. On a practical level, this can mean documenting what is happening at home, how patients are responding to certain drugs and treatment regimens, and other insights that are truly person-centered. In my perspective, as a health equity researcher with interests in genomics and neonatal care, as well as an incoming medical student starting this fall 2025, I often think back to this story in reflecting on the type of physician-advocate I want to become. Using the lens of intersectionality developed by Black feminist scholar Kimberlé Crenshaw, difficulties in the rare disease space can be exacerbated for patients and caregivers of minoritized identities in the US. In response to this public health crisis, I will begin my term this month as the 2025 RDDC Fellow, a role in which I am collaborating with the American Muslim Health Professionals (AMHP) on necessary anti-discrimination research and implementation. More specifically, our teams will work together on developing a curriculum for healthcare providers serving Muslim patients living with rare disease, and we will touch on key experiences that can be translated across patient groups. For instance, we will focus on end-of-life care, mental health, nutrition, maternal and child health, oncology, and other core fields in the rare disease space.
As I progress through the RDDC Fellowship and my future physician-advocate training, I hope to focus on re-humanizing medicine in rare disease spaces. This approach can be practiced in a number of ways, such as through patient-first research that prioritizes patient lives in the present as well as implications on future patient communities through clinical trials, transparent and equitable collaborations with citizen scientists as co-investigators, and honoring the time of patients and families throughout their diagnostic odysseys. I would like to thank the RDDC and AMHP for their support on this work, and I look forward to sharing my fellowship journey with you all through this blog channel.