As part of the orphanisation team’s ongoing ethnographic immersion at pharmaceutical and rare disease conferences, Matthew Hanchard attended the US National Organization for Rare Disorders (NORD) ‘Living rare, living stronger’ patient and family forum in Universal City Hilton Hotel, just outside Los Angeles (CA) in mid-June 2024. As a major national event hosted by the largest rare disease umbrella organisation in the world it brought together patients (and family members), patient organisations (POs), and industry from across the USA. It also drew a sizable contingent of nursing staff and genetic counsellors. As such, it provided a great opportunity for networking and helped in recruiting interviewees for a current subproject on ‘the sociotechnical imaginaries of orphan drug access in the USA’ – as USA-based complimentary work to our recently completed work examining ‘patients’ access to orphan drugs in the UK (from patients’ perspectives)’.
The NORD event itself differed from many of those organised by Terrapin, such as the World Orphan Drug Congress or World EPA Congress. Where the latter provide primarily business-facing talks (for industry and POs), the NORD event was far more focussed on patients, giving it more of an informal tone. Attendees swapped corporate attire for event branded T-Shirts, children ran free in dedicated play areas, and talks were interspersed with entertainment like a performance by members of the Rollettes dance troupe. None of that distracted though from the depth or seriousness of discussion; if anything, having patients and family members (the actual people affected) there in the room and interacting as equals rather than medicalised subjects or quantified as data endpoints in graph-form brought a much-needed sense of immediacy and grounded-ness to the fore.
The talks were clearly split along two parallel tracks. One track focussed on advances in genetic testing and newborn screening, including some of the challenges faced in the USA. For example, Elisa Seeger (Founder of ALD Alliance) noted that while there have been pre-screening tests since the passing of the Newborn Screening Saves Lives Act, and with 37 rare diseases included in Recommended Uniform Screening Panel (RUSP), ‘…in 2019 the RUSP list expired …’. In turn, she adds that by ‘…2024 not one [USA] state is screening for all 37 RUSP conditions’. Here, panel discussion turned to assess the value of opt-in versus mandatory screening models and the resource allocation both entail for national healthcare budgets and payers.
Rather than policy, other speakers turned to discuss wider cultural practices in medicine as normal science and its impact on innovation. Zhanzi (“Mike”) Hu (Co-founder of the new born screening genomics non-profit GUARDIAN) for example, argued that that at present anything outside ‘[clinical mass] spectronomy a no-no from the start..’ for diagnoses, meaning that ‘…we are straggled in the boundaries of our current technologies’.
Meanwhile, the other track focussed on patient experience of living with a rare disease, what it might mean for sexual and reproductive health, and how to find purpose post-diagnosis. A line on thought that resonated with many, including speakers like Amanda Marinoff (Attending Paediatric Oncologist and Clinical Instructor at University of California, San Francisco) who urged the importance of acknowledging parents’ role in “being [their] child’s main advocate [adding that] we learn by having tissues and samples, [which requires that] patients give generously by taking part [in trials and registries]”
The two strands worked well in counterpoint and had clearly been curated with a great deal of care, tact, and experience. The structure was mirrored too in the choice of keynote speakers too, with ‘Under the Lights’ film-maker Miles Levin’s opening talk on community, fulfilment and building future narratives around hope being followed by two policy-focussed panel discussions. One on health equity looked at geography, race, and linguistics to show deep inequities at play with the treatments received by over 30 million rare disease patients across the USA. The other centred on overcoming insurance barriers to access rare disease medicines (including orphan drugs), a topic that members of our team have published on recently (see Hanchard, 2024), with several useful tips for patients to navigate its complexity across differing federal health jurisdictions.
Meanwhile, in looking to the future, Professor Stanley Nelson (Human Genetics and Psychiatry, UCLA) mapped the journey from early-1960s genomic testing through the emergence of a good network with linkages between organisations working on genomics by the 2000s. next, he moved on to protein coding of genomes and exomes in the late-2000s, “capable of finding 85% of all disease-causing mutations” and note that “now RNA [testing] augments routine [clinical] testing” and will likely continue to do so as the main direction of travel.
Curiously, outside the main seminar rooms, the hallway saw stalls set out form a mix of and gene therapies. The followed in the list of sponsors too, with Chiesi an Italian B-Corporation) appearing as Silver sponsor alongside Novartis and the usual west coast ‘big pharma’ companies being listed as Gold sponsors (Amgen, Biogen, Takeda). A small hint, perhaps, of a burgeoning shift towards a mixed-market economy of big players in the rare disease space with greater focus on cell and gene therapies (CGTs) than traditional pharmaceuticals. The latter a topic of another one of our team subprojects, which examines ‘a mixed economy of innovation in drug development for rare diseases’. Interestingly, representatives from CGT manufacturers appeared far more approachable than those from traditional pharmaceutical firms at other conferences too; their stalls staffed by researchers and advocates more than the consultants and/or business development managers encountered at the World Orphan Drug and EPA congresses.
Overall, the event provided a very positive experience, with NORD’s Tiffany and Janus doing a wonderful job of moderating talks and keeping the session on-time and om-rack. It also saw less onus being placed on sales and more on facilitating smaller POs and patient/parents to work together on common goals – primarily gaining earlier diagnoses and raising greater awareness of rarity amongst clinicians, and on brokering access to relevant treatments for US patients. As a closing thought, and much in line with our own work on ‘the social lives of patient stories (SLoPS)‘ project, the key takeaway for patients came from Elisa, who urged people to “tell your story…[because] it is so powerful”.
