Patient Empowerment Program: A Rare Disease Podcast

Our Mission is Personal with Sarah Glass

For n-Lorem’s Chief Operating Officer, Sarah Glass, the mission of n-Lorem is personal. Her son Ethan was diagnosed with a nano-rare mutation. A geneticist by training, she joined n-Lorem to oversee and direct the organization’s efforts to provide hope and potential help to those who need it most. It's more than just a job for her; she's powered by her son and the entire nano-rare community. 1:20 Sarah’s background, early life, and scientific interests 7:20 Thinking about the patient experience while at a Contract Research Organization 8:43 Rare disease trails are relatively new 10:54 Sarah’s son, Ethan, is a nano-rare patient 16:15 How long it took for Ethan to receive a diagnosis 21:35 Ethan's diagnosis and symptoms25:55 How Sarah heard about n-Lorem29:30 How does one come to terms with caring for a nano-rare child; How do parents continue looking for opportunities of hope when they may feel hopeless32:58 What Sarah has learned while at n-Lorem36:48 The biggest surprises Sarah has encountered during her journey at n-Lorem

Q&A #2 with Patient Families

Charissa Lipman joins n-Lorem founder and CEO, and host of the Patient Empowerment Program Podcast, Dr. Stan Crooke, in this question-and-answer episode to discuss additional questions asked during the 2023 Nano-rare Patient Colloquium. Charissa attended the inaugural Colloquium in October 2023 and brings the perspective of a patient family member, discussing her experiences and takeaways from the meeting. She is the mother of Ryker, a nano-rare n-Lorem patient with a CACNA1A genetic mutation. Stan and Charissa sit down to have a conversation and together address questions from the nano-rare community. Do you have a question you want to ask Stan Crooke? Email podcast@nlorem.org for a chance to be featured in a future episode. For general questions, email info@nlorem.org.In this episode we answer:08:25 As you are successful in discovering and developing individualized ASO for nano-rare patients, do you envision creating a library of ASOs that would be available to patients across the world?10:29 For disease organization/patient advocacy groups that have several patients with the same mutation, should they apply for treatment as a group or separately?13:16 Would an ASO developed for one patient work for another patient with a mutation in the same gene?14:29 What's a SNP?16:19 As a nano-rare family member, I have never been so inspired in an opening address as what was provided at the 2023 colloquium by Stan Crooke. Given the mission of n-Lorem, I don’t understand how any researching neurologist (or any researcher in the space) would not want to be at the absolute forefront of what n-Lorem is doing. Why do you think there is such an obstacle to being a part of an organization that has for the first time an opportunity to move the needle in such a meaningful way?20:16 How would you describe the relationship between n-Lorem and the research physician, and what should patients expect from each side?23:44 What do you mean by an optimized ASO?24:59 Would you expect to see better results from ASO treatment in patients who are younger versus older?28:10 The FDA has certain designations for program review (Fast Track, Orphan, etc,), is there anything like that for nano-rare patients?29:35 I realize that there was significant work done in 2023 to streamline n-Lorem’s operations. Which processes in the workflow do you believe can still be optimized to help streamline patient programs?31:35 Has there been a change in the amount of time it takes to process a patient and develop and ASO since the Foundation started?32:50 Do you reach out to patients which presumably have ‘ASO-able’ genetic mutations?34:12 Do you have any activities or ongoing projects that would help educate and train physicians who might be interested in participating with n-Lorem?36:05 Are there any new updates regarding the 2024 Nano-rare Patient Colloquium?41:36 Say a patient is denied from n-Lorem because at the time of their application submission, the Access to Treatment Committee declares that the program is not amendable to the current technology and/or ASO strategies, but new data/technology comes out that suggests that patient’s program has revived potential... will the ATTC automatically reassess the case or does a physician have to re-apply the patient to n-Lorem?

Everybody Lives with Dan Doctoroff

We're diving into the archives to resurface this top downloaded episode from last year. Dan Doctoroff joined Patient Empowerment Program in February 2023 to talk about his mission to support a world where everyone with ALS lives. Dan is the former NYC deputy mayor for economics and former CEO of both Bloomberg L.P. and Sidewalk Labs. In this episode, Dan discusses his family’s battle with amyotrophic lateral sclerosis (ALS), his own inspiring story of how his diagnosis completely changed his outlook on life and his work with the foundation he started, Target ALS.

Best of the 2023 Nano-rare Patient Colloquium

For the return of the patient empowerment program podcast, we’re recapping the 2023 Nano-rare Patient Colloquium in this special “Best of” episode. For the Colloquium, we gathered the nano-rare community under one single roof for a full day of presentations and panels with experts, partners, supporters, and patients. So, we are bringing some of the top moments directly to your speakers. Discover the origins and aspirations of n-Lorem and Columbia University's Silence ALS initiative, visualize the journey of a nano-rare patient with an emotional story told by a loved one, and imagine a future where commercial drug discovery organizations can focus on the world’s rarest diseases and more all in this one episode. To access the entire event, click here.

How to Think About ”Risk” Part 2

Nano-rare diseases strip power from families and this often leads to hopelessness, anger, and dread. However, channeling these intense emotions to carefully navigate risk/benefit decisions is within one’s control.n-Lorem is different than standard drug development settings. Every risk/benefit decision that n-Lorem makes is in the context of the individual patient’s symptoms, status, and needs. While we cannot promise benefit, we can promise that we will do our very best in the creation of an optimal medicine.On This Episode We Discuss:Risk/benefit decisionsn-Lorem is differentWe cannot make promisesCommunicating about riskPerceptions concerning controlExposure and riskCompressionOmissionTimingOfficial positions affect our perceptionsAnchoring and communicating risk

How to Think About ”Risk” Part 1

“How to Think About Risk” is arguably the most crucial topic ever discussed on the Patient Empowerment Program. Navigating decisions with substantial risk can be challenging, intricate, and even intimidating. The ability to detach from the intense emotions surrounding these choices is critical for making the best and most logical decisions.On This Episode We Discuss:Why nano-rare patients and their families need to think effectively about riskRisk vignettes: infectious diseases, automobile and smoking deathsA rational way to think about riskBeing comfortable with a probabilistic realityThe 80/20 ruleConsidering consequencesThe process to assess riskGetting serious about risk/benefit evaluationsRisk/benefit judgements

Inheriting Huntington’s Disease and Aspiring to Prolong Lives with Jeff Carroll

Jeff Carroll, Ph.D., inherited a gene that will eventually lead to symptoms of Huntington’s Disease. Alongside researching this debilitating disease as an Associate Professor of Neurology at the University of Washington, he’s a Scientific Advisor for n-Lorem and member of the Access to Treatment Committee (ATTC) that helps screen and assess submitted patient applications.On This Episode We Discuss:2:45 Joining the Amy on a whim 4:30 Serving in Kosovo and Germany6:00 Learning that his mother was diagnosed with Huntington’s disease (HD)10:25 Seeking information and diving into the world of Biology and HD14:52 Deciding to have children when there was a chance that they’d inherit the disease and utilizing preimplantation genetic diagnosis (PGD)18:30 Watching Ionis make initial progress on an ASO for Huntington’s disease23:10 How Jeff became involved with n-Lorem27:30 Most important things Jeff has learned during his role at n-Lorem30:38 Helping people is motivating32:11 Nano-rare patients teach us a lot about science33:57 Jeff expects to receive an ASO treatment one day35:22 n-Lorem is on your side

Living a Longer, Healthier, and More Fun Life with Chip Wilson

Chip Wilson, the creator of Lululemon and SOLVE FSHD, stands as a pioneer, business innovator, philanthropist, and a person affected by a rare disease. His passion for fitness led him to build a successful career in designing athletic wear, but a diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD), a degenerative muscle condition, altered his active lifestyle.On This Episode We Discuss:0:46 Working on the Alaska Oil Pipeline as a 17-year-old4:30 Saving money young and becoming an entrepreneur7:05 Following trends and founding Lululemon8:36 Chip’s initial dream and vision for Lululemon11:45 Combining Italian design ethics with quality western fabrics for an amazing Lulu product 14:20 The feeling of leaving the Lululemon Board of Directors 17:00 The takeaways from Joseph Heller’s Catch 22 and Something Happened 24:15 Reading the top 100 biographies and admiring those with integrity 33:44 Using the culture of an organization and leadership as a strategic advantage 38:18 Facioscapulohumeral muscular dystrophy (FSHD) 40:05 Chip on losing muscle when exercise and movement is so necessary for his way of life 44:27 Climbing Mount Kilimanjaro with FSHD 46:58 Chip’s advice to those suffering from rare diseases and their caregivers 49:24 What progress that has been made to find a treatment for FSHD 52:35 Why Chip and SOLVE FSHD donated to help fund the funded the laboratory at n-Lorem

Autopilot: The Autonomic Nervous System

The Autonomic Nervous System automatically controls essential processes whether you’re awake or asleep. It’s the employee of the month. It gets the job done at any time of the day without you even having to ask it. It is our body’s autopilot system, controlling functions we often take for granted, like heart rate, digestion, pupil dilation, and even breathing! Life would be pretty hard on manual.On This Episode We Discuss:“I Sing The Body Electric”Hemo and chemo-electric machinesThe nervous systemsAutonomic nervous system manages many organs and involuntary functionsSympathetic and parasympathetic nerves

Better Health, Brighter Future for Rare with Dan Curran

Dr. Daniel Curran leads Takeda’s efforts to unlock innovation and deliver transformative medicines in a variety of rare-disease areas. Dan embraces learning from, collaborating with, and meeting members of the rare disease community in an effort to produce treatments that result in better health and a brighter future for rare.2:02 How rare disease is defined at Takeda4:10 Rare disease units at Takeda5:23 How Takeda economically justifies half of their pipeline being rare disease drugs9:06 The price of rare disease drugs is too high12:15 Why rare disease efforts are often associated with hematology14:57 What Dr. Curran enjoys about leading Takeda's rare genetics and hematology therapeutic unit16:42 Dr. Curran's professional journey20:50 Takeda's choice to support n-Lorem