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/