Patient Empowerment Program: A Rare Disease Podcast

A lot can happen in a year, and at n-Lorem, this past year has brought important milestones, new developments, and plenty to discuss at the upcoming 2026 Nano-rare Patient Colloquium. 

In this special Colloquium preview episode, Brady Huggett, editor-in-chief of Asimov Press and longtime moderator of the Colloquium’s patient experience panel, returns to sit down with n-Lorem CEO Stan Crooke. Together, they reflect on the past year, explore some of the topics likely to take center stage, and preview what attendees can expect at the 2026 Nano-rare Patient Colloquium. 

On this episode:

2:28 – What is a day in the life of an n-Lorem research team member? 

9:08 – How many ASOs are required to move into tolerability studies and what may cause a program to be terminated 

12:05 – Improvements in efficiencies, bringing down costs, and growth have allowed n-Lorem to respond to the extraordinary demand 

13:14 – Discussing the creation of individualized ASOs for two boys with SCN2A mutations and their potential to help others with the same mutation and single nucleotide variant 

25:00 – Thoughts on the FDA’s Plausible Mechanism Framework 

29:00 – Commercial opportunities will not alter the n-Lorem charitable arm but will provide sustainable revenues to charitably treat more patients 

36:05 – What are the Limits of Hope and expanding those limits 

37:54 – Empathy is an expanded sense of self, and a sphere of oneness is felt at the Colloquium 

 

Links:

2026 Nano-rare Patient Colloquium 

Donate to n-Lorem

 

Episode and NRPC Gold Sponsors:

ChemGenes

GondolaBio

Hongene Biotech

Sally Jackson is a former actress, cookbook co-author, and mother of Susannah. In this Realities of the Nano-rare episode, Sally lets us into her family’s bubble, speaking candidly about the deeply complex and often terrifying realities of navigating KIF1A-associated neurological disorder. From helping Susannah's sibling understand the harsh consequences of her disease to confronting distress, uncertainty, and the profound unfairness of it all, Sally shares the difficult truths her family has faced and continues to carry and fight through.

On this episode:
4:00 – Sally and her husband's story first began in a college acting class
9:55 – Forming a career alongside celebrity chef Bobby Flay
13:30 – Family of four including Nat and Susannah
16:55 – Early abnormalities and a diagnosis initially withheld from the family
22:50 – The fight for Susannah and others with KIF1A post-diagnosis
29:24 – Dealing with the seriousness of a degenerative condition while trying to live a normal life
34:00 – Enduring relentless seizures
38:31 – The reality that not even doctors know what's best and often experiment to attempt to relieve rare disease symptoms, and the unfairness of rare disease
45:00 – Informing siblings about the severity and consequences of rare disease
57:00 – Changing the course of their life to advocate to the fullest extent
1:02:25 – After the long fight, there was an ASO
1:07:30 – After years of treatment, Susannah had to stop, a crushing blow that was followed by worsening symptoms before once again resuming treatments

Links:

Nano-rare Patient Colloquium 2026

Support n-Lorem with a donation

Today's Sponsor - Hongene

Silence ALS is an initiative that brings together Columbia University and n-Lorem to support the discovery, development, and treatment of individuals living with nano-rare genetic forms of amyotrophic lateral sclerosis (ALS) through personalized antisense oligonucleotide (ASO) medicines. Learn more about this initiative and one of its co-founders, leading ALS physician-scientist Dr. Neil Shneider in this episode of the Patient Empowerment Program podcast.

On this episode we discuss:

4:00 – Developing tools to discuss with patients about the real and scary outcomes of ALS, and changing the course of a neurogenerative and fatal disease

6:52 – Experimental ASO treatments for genetic forms of ALS

9:30 – The creation of Silence ALS to treat extremely rare forms of genetically caused ALS like CHCHD10 and TARDBP and moving the collaboration forward

12:36 – Serving present day and future patient populations with the Silence ALS initiative

17:30 – Learnings gained from treated nano-rare ALS patients may translate to broader ALS groups

22:33 – To ALS patients and families, hope is powerful and makes a difference

 

Links: 
Donate - https://www.nlorem.org/donate/ 
NRCP26 - https://www.nlorem.org/nano-rare-patient-colloquium-2026/ 
Hongene - https://www.hongene.com/

The final chapter of our Miracles of Science series has arrived! Today’s miracle is an important one: Antisense Technology, perhaps you've heard of it 😉

Every day, our patients benefit from what can only be described as miracles of science. Not the fairytale kind. Not wishes granted overnight. These miracles are earned by humans. Built over centuries by scientists whose discoveries stacked, evolved, and refined over time. They are the result of human curiosity, persistence, and an ever-deepening understanding of biology, and they’ve fundamentally changed how we see the world and treat disease.

This series has pulled back the curtain on the scientific and medical breakthroughs that make n-Lorem possible, including Genomic, Stem Cells, the RNA World and Antisense Technology. Their importance is consequential, and without these breakthroughs, n-Lorem would not exist today.

 

On this episode we discuss:

- The Evolution of the Drug Discovery and Development Industry

- The Rise of Small-Molecule Drug Discovery

- New Platforms That Expanded the Possibilities of Drug Discovery

- Why Antisense?

- How Ionis Created ASO Technology

 

Links:

Nano-rare Patient Colloquium 2026: https://www.nlorem.org/nano-rare-patient-colloquium-2026/ 

Support n-Lorem: https://www.nlorem.org/donate/ 

 

Episode sponsors:

Hongene: https://www.hongene.com/ 

Chemgenes: https://www.chemgenes.com/

We’re celebrating our 100th episode with a special guest, CNBC Squawk Box’s own Becky Quick! Becky’s daughter Kaylie lives with SYNGAP1, and their family’s rare disease experience inspired the creation of CNBC Cures, an initiative bringing together families, doctors, investors and regulators with one goal in mind: helping to raise awareness of, and improve patient outcomes for, the 30 million Americans suffering from rare diseases. Get to know Becky and her daughter Kaylie’s story in this episode of the n-lorem Patient Empowerment Program podcast.

Sign up for the CNBC Cures Newsletter: https://www.cnbc.com/cnbc-cures-newsletter/ 

 

On this episode we discuss:

1:25 – Celebrating 100 episodes of the n-Lorem Patient Empowerment Program podcast

6:40 – Welcome Becky Quick; CNBC Anchor and mother of a Kaylie

10:35 – Becky’s journalistic origins and path

16:13 – Launching CNBC Cures and the need to help others facing rare diseases

23:00 – Navigating life with the challenges caused by rare disease

29:03 – Kaylie’s SYNGAP1 diagnostic odyssey

42:10 – Tending with the loss of control

43:56 – Non-verbal does not mean lacking understanding

48:30 – SYNGAP1 explained

59:01 – Hope is powerful

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Make hope possible with a donation in support of nano-rare patient programs: https://www.nlorem.org/donate/ 

This episode is made possible thanks to our sponsors: Learn more about Chemgenes - https://www.chemgenes.com/