Patient Empowerment Program: A Rare Disease Podcast

In this episode of the n-Lorem Patient Empowerment Podcast, Stan Crooke explores the “RNA World” — the groundbreaking field of RNA biology that helped make modern genetic medicine possible. Drawing from personal experience, he shares the scientific battles surrounding early RNA discoveries, the development of antisense technology, and how decades of persistence ultimately led to life-changing therapies for nano-rare patients. Along the way, Stan explains how evolution, molecular biology, and information systems inside cells shape human health and the future of medicine. 

 

00:00 – Introduction & Sponsor Message 
Stan introduces the episode and explains the importance of the RNA World to nano-rare medicine. 

02:15 – Why RNA Science Changed Everything 
How RNA discoveries became foundational to modern genetic therapies. 

05:10 – The Scientific Wars Over Small Nuclear RNAs 
The fierce debates among scientists about whether snRNAs were real or experimental artifacts. 

09:40 – What Science Is Really Like Behind the Scenes 
Stan discusses the emotional and competitive nature of scientific discovery. 

13:00 – Antisense Technology & the Road to Spinraza 
How decades of RNA research led to breakthrough treatments for spinal muscular atrophy. 

17:30 – Lessons From Evolution 
Why evolution reuses successful molecular strategies to create complex life. 

22:15 – Families of Genes, Proteins & Molecular Efficiency 
How biological systems adapt and customize molecular functions. 

26:00 – Life as an Information System 
Stan explains DNA, RNA, proteins, and cells through the lens of information theory. 

29:00 – Final Thoughts: Humanity Wins Through Science 
Why scientific perseverance ultimately benefits patients and society.

A nano rare diagnosis reshapes an entire family. 

In Realizing Hope for Layken, Stan Crooke speaks with Callan Pleasant about her daughter Layken and their journey with HNRNPH2. 

Callan shares the early signs, the long road to diagnosis, and what it takes to navigate care while holding onto hope. Through n-Lorem, Layken’s story is moving forward with new possibility. 

Listen to the full conversation with Callan Pleasant. 

Show Notes: 

1:20 – Introduction of special guest Callan Pleasant and her family, namely her daughter Layken 

3:50– Parenthood and speed bumps 

7:30 – First medical consultation regarding Layken 

9:30 – No such thing as a lazy baby. A second look at Layken 

10:40 – Finding a diagnosis: HNRNPH2 

13:50 – Feeling alone after realizing Layken has a nano-rare disease 

16:30 – Managing frustrations and blaming themselves 

20:30 – Managing expectations 

23:00 – Challenging Layken to communicate and move 

26:30 – Finding solidarity with other families 

29:30 – London, Layken's sister 

38:40 – An explanation of HNRNPH2 along with signs and symptoms 

47:30 – Considering possible treatments and risks 

49:30 – Taking a leap of faith and submitting for ASO treatment 

54:00 – n-Lorem providing hope through science 

56:00 – Layken's first treatment 

57:30 – Layken's progress 

58:50 – Positive verbal progression 

1:01:50 – Callan's advice to families

A nano-rare diagnosis changes more than one life—it transforms an entire family. 

In this episode of Realities of the Nano-rare, n-Lorem CEO Stan Crooke sits down with Oliver Glass, Ph.D., MHSc, for an honest and heartfelt conversation about raising a child with DYRK1A syndrome. Together, they discuss the early signs something was wrong, the long search for answers, the realities of daily life, and how their family has adapted to build a new normal. 

From daily challenges to unexpected lessons in resilience, love, and perspective, this episode offers a powerful look inside one family’s journey with rare disease. 

🎧 Listen now and subscribe for more conversations from the nano-rare community. 

Learn more about n-Lorem: https://www.nlorem.org 

Episode Chapters 

0:00 Intro 

1:30 Stan introduces Oliver Glass and his family’s story 

7:30 Early signs and symptoms 

14:20 Running tests and searching for answers 

16:25 The diagnosis journey 

23:00 What is DYRK1A? 

27:45 Life with Ethan today 

32:40 How life looks different as a family 

34:00 When the Glass family first heard about n-Lorem 

36:20 Biggest worries for the future 

38:45 Supporting siblings and balancing attention 

43:00 Advice, reflection, and hindsight 

#RareDisease #DYRK1A #GeneticDisorders #PatientStory #Podcast #nLorem #CaregiverJourney #FamilyStory

A nano rare diagnosis does not just affect one person. It reshapes an entire family. 

Realities of the Nano-rare takes you inside that experience. Hear directly from n-Lorem COO and nano rare mom Sarah Glass as she joins host Stan Crooke to share the day-to-day realities of raising her son Ethan and the ripple effects on their whole family, including his older sister. 

Discover how they have adapted, what they have learned, and how they have built a new normal. 

Tune in to this powerful two-part series featuring both Sarah and Oliver Glass. 

 

On This Episode We Discuss: 

5:08 – Introduction to Sarah Glass and her family's Nano-rare experience 

9:00 – Initial challenges of accurately identifying Sarah's son Ethan had a Nano-rare disease 

11:30 – Symptoms and telltale signs that there was something else going on with Ethan 

14:45 – Identifying that Ethan has DYRK1A 

17:20 – Challenges of finding solutions post-diagnosis 

20:20 – Navigating Sarah's son's DYRK1A with her unaffected daughter 

23: 04 – What's a good day with DYRK1A? 

27:01 – What's a bad day with DYRK1A? 

34:30 – Managing frustrations of taking care of someone with a Nano-rare disease 

37:05 – Compromises in professional life 

41:00 – Planning for contingencies  

43:10 – Unexpected tender moments of raising someone with DYRK1A 

47:30 – Advice for managing expectations, future plans, and working with others 

 

Make sure to check out our sponsor Chemgenes!

Welcome to part two of our series that pulls back the curtain on the scientific and medical breakthroughs that make n-Lorem possible. We call them miracles and without them, n-Lorem would not exist today.

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.

Today’s miracle: Induced Pluripotent Stem Cells or iPSCs

iPSCs are a truly transformative scientific breakthrough that are changing what’s possible for nano-rare patients! They allow us to study, test, and personalize treatments in ways that were unimaginable not long ago. For example, they enable n-Lorem to take easily obtained cells, such as skin cells, grow them and then reprogram them into entirely different cell types of interest, like neurons, cells that exist within the brain and would otherwise be inaccessible without invasive procedures. Incredible!

 

On This Episode We Discuss:

0:53 – What are induced pluripotent stem cells (iPSCs) why they are essential to n-Lorem and personalized medicine 

4:25 – The origins of iPSCs began with curiosity and the discovery and study of cells 

10:19 – Cell differentiation: How a single cell (fertilized egg) can create such a diverse universe of other types of cells 

18:45 – Terminal differentiation: The final stage of a cell's development reaching its final form 

21:45 – The iPSC breakthrough and the doors they’ve opened for treatments