1. A podcast that perfectly set the stage:
“We have been talking now for 15, 20 years about the diagnostic odyssey. That shouldn’t exist anymore. The new odyssey is the therapeutic odyssey.”
Quote from Dr. Stephen Kingsmore, previous CEO and president of Rady Children’s Hospital in San Diego on Mendelspod, released Feb 26th: Illumina’s New Mapped Read Technology Provides Insights into Rare Disease: Stephen Kingsmore, Olivia Kim-McManus and Ali Crawford
^this quote has been echoing in my brain since hearing it. Not to mention it couldn’t have been better timing with Rare Disease Day on Feb 28th. (Given a leap-year, Rare Disease Day lands on the rarest day, Feb 29th.)
Dr. Kingsmore’s statement surprised me simply because it means I’m old! 😅 For a decade+ I’ve heard and used the term “diagnostic odyssey”. It’s clear to me now that this goal of providing access and interpretation to next generation sequencing, to end a patient’s diagnostic odyssey, is here. However, this presents the next challenge…
2. Rewatching Lainey Moseley’s Independent Documentary – RARE: A Rare Disease Revolution
I had an opportunity to rewatch this incredible film over the weekend, and share the viewing experience with my wife. This second time watching, with Dr. Kingsmore’s quote in my head, it carried such a different perspective.
The families in the documentary know their enemy, thanks to sequencing and screening. Knowing your enemy is the first building block to galvanize support, build a community, and direct action towards a cure. The RARE documentary doesn’t call these families’ journeys “therapeutic odysseys”, but it’s precisely at the core of the #TooRareToCare thesis that rips at your heartstrings. Showcasing familial tenacity leads the way for perfect storytelling.
If you haven’t seen this film, seek it out at this website, follow Lainey Moseley for viewing opportunities. I’m so impressed with how well the documentary captures the human element and highlights scientific advancements, featuring genetic diagnosis and modern gene and cell therapy.
3. Attending Rare Disease Day event in San Diego
I’m so glad to have been a participant of Genetic Alliance’s 2nd annual Rare Disease Day. The event brought bright minds together, representing both the diagnostic and therapeutic perspectives featuring local biotech sponsors.
Within the span of 4-hours, my wife and I found ourselves in circles discussing nerdy multi-omic technologies, learning about FDA drug repurposing at the national scale, and meeting passionate San Diegans in medicine. To put it simply, this was an awesome event with awesome people.
4. Illumina Rare Disease Parent Panel
Cody Barnett hosted another fantastic Rare Disease Day panel (last year featured the RARE documentary, write up here). This year featured 3 San Diego parents and their children’s stories.
Again, with Dr. Kingsmore’s statement top-of-mind I listened to their odysseys. 2 parents had 21+ aged kids, who had learned their diagnosis later in life, after symptoms and physical limitations had progressed to full-needs based care. The third parent had a much younger child and shared a much different outcome.
This younger child’s diagnostic odyssey ended after genomic sequencing at Rady Children’s Hospital, and his therapeutic odyssey ended just 24-hours later. The miraculous part was hearing the parent talk of her son’s restoration of speech, movement, and cognition.
I had an opportunity to ask the parents if they shared Dr. Kingsmore’s perspective and they agreed with a resounding yes. The highlighted difference between the kid’s odysseys was time, as in, WHEN was genomic sequencing introduced in their child’s diagnosis.
The parents answered a “what’s next” question with incredible optimism. They shared stories ranging from local outreach support, to global community building, to government advocacy focused on rewriting FDA trial structures and opening a pathway for Genetic Counselors to prescribe Genomic Sequencing with insurance reimbursement. ^that’s admittedly a large swath of sweeping, categorical changes… but after hearing Rare disease patient odysseys, it’s a systemic overhaul that’s desperately needed.
Steven Gruber's 