Patient Empowerment Program: A Rare Disease Podcast

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

Sneak Peek of the 2023 Nano-rare Patient Colloquium

As the first ever Nano-rare Patient Colloquium is just around the corner, we are flipping the script. Spectrum News’ Brady Huggett interviews n-Lorem founder and CEO, Dr. Stan Crooke, and picks his mind to understand the inspiration behind the creation and want for this first of its kind nano-rare community event. Along with some background information on the highly anticipated Colloquium, Stan candidly conveys n-Lorem's hurdles and joys in its first four years of service.

Liver: Diseases

Liver disease is a broad term encompassing a range of conditions that affect the liver's structure and function. The liver is extremely important as it wears many different hats when it comes to your body functioning properly like controlling metabolism, storing and breaking down nutrients for use, detoxification and more! No wonder there are many diseases associated with liver disfunction including various genetic ones. Get ready to explore... you guessed it, various diseases of the liver! On this episode we discuss:Controlling inflammatory processesLiver failureGenetic disease pathwaysDrug metabolismFatty liverBlood tests signal liver disfunction

Liver: The Master Chemist

The liver is a master chemist that sends copious signals to help control our appetite and breaks down fats to be stored and used as energy and to combat starvation. Next time you’re hangry, think of your liver kicking into overdrive.On This Episode We Discuss:Producing countless small chemical metabolitesControlling iron homeostasisThe liver and the gut microbiomeCombatting starvation and triggering appetiteManaging glucose levels