Patient Empowerment Program: A Rare Disease Podcast

The Hurdles of Insuring Patients with Nano-rare Mutations with Alan Lotvin, M.D.

What's preventing insurers from covering the specialized care of patients with nano-rare mutations, thereby expanding access to available treatment options? Is it the population size, cost, or perceived risk? Given that the initial discovery of nano-rare mutations is relatively recent, paving the way for this population requires a nuanced approach to overcome various obstacles. Alan Lotvin, M.D., CEO and co-founder of Sequel Med Tech, and former president of CVS Caremark, conceptualizes these hurdles.

Anna’s Story of Hope and Help: FUS-ALS with Sonja Kämpfer and Dr. Neil Shneider

Stan Crooke speaks with Sonja Kampfer and Dr. Neil Shneider, associate professor of motor neuron disorders at Columbia Medical School, about Sonja’s daughter, Anna. Anna was diagnosed with an aggressive, fatal form of ALS at the age of 16. ALS is rare in teenagers, and this form of ALS is the worst of the worst. Sonja tells Anna’s story initial symptom onset, to diagnosis, and to Anna's response to ASO treatment. As a parent, Sonja reveals her full range of emotions during the duration of her daughter’s disease: puzzlement, pain, humility, and now optimism.On This Episode We Discuss:Anna’s life before her symptoms appearedThe road to a diagnosis and treatment– from Germany to New York CityNeil Shneider and his work with ASOsThe struggles of a family fighting a nano-rare disorderAnna’s mutationAnna’s remarkable progress

Mostyn’s Story: Mother’s Day Special with Zoe Hummel

Motherhood is a journey filled with challenges, but every step is worth it for the love and joy it brings. Zoe Hummel joins the show in this special Mother’s Day episode to discuss her son Mostyn’s emotional story to diagnosis, and the unique challenges and triumphs of being a nano-rare mom.Order your Mother's Day card by May 6, 2024! All proceed support nano-rare patients.On This Episode We Discuss:How Zoe met her Husband, Mostyn’s fatherZoe’s Violin origins and playing with Rod StewartMostyn’s journey to a diagnosisZoe’s advice for parents observing abnormalities in their child's developmentMostyn’s severe epilepsyA road trip to Boston Children’s Hospital in the middle of winterThe ‘unlucky’ diagnosis of KCNB1For-profit companies promising false hope

Physicians and Institutions Transform the Lives of Nano-rare Patients with Olivia Kim-McManus, M.D.

Research physicians and their associated institutions are monumental to the mission of the n-Lorem Foundation and are truly transformational to the lives of the nano-rare patients they treat. Olivia Kim-McManus, M.D., was one of four physician panelists at our first Colloquium who participated in "A Physician's Perspective on n-Lorem and Nano-rare". Hear Olivia's outlook on nano-rare patients and how the support of an institution like UCSD Rady Children’s Hospital makes all the difference.On This Episode We Discuss:1:55 When Dr. McManus became interested in pediatric neurology and epilepsy 4:00 What ion channels do and why they play a role in epilepsy 5:17 How often is epilepsy genetically caused? 6:52 Why Dr. McManus and Rady Children’s Hospital choose to invest time and resources in helping nano-rare patients. 11:50 Bringing people together for a single forum at the Nano-rare Patient Colloquium inspires collaboration between groups 14:43 The importance of a network of treating physicians and institutions and sharing experiences and lessons learned 17:58 Interest within Rady Children’s Hospital regarding nano-rare patient treatment and ASOs 21:45 A Physician’s Perspective of Nano-rare and n-Lorem

Advanced Genetics Part 2

Genetics can be intricate, no doubt. With millions of mutations present in every human, one might wonder why not everyone is impacted by pathogenic diseases. The Patient Empowerment Program aims to assist you in grasping the fundamental concepts of various mutations and how they function, paving the way for you to enhance your understanding of genetics. Delve into the diverse array of disease-causing mutations, their characteristics, and explore which mutations could potentially be addressed through ASO treatment in this concluding episode of Advanced Genetics.On This Episode We Discuss:The nature of a SNPPre-mature-m-RNA effectsIndels can disrupt the reading frameDefining Alleles, Homozygous, Heterozygous, and Compound HeterozygousThe difference between whole exome and genome sequencingHow we, at n-Lorem, decide which patients are amendable to ASO treatmentsHow we design ASOs to take advantage of different post-RNA binding mechanismsMechanisms: Non-allele selective RNAse H1, Allele-selective RNAse H1, and Splicing ASOs

Advanced Genetics Part 1

Each time one of the cells in your body divides to form a new cell, 3 BILLION genetic letters must be accurately duplicated. That’s a big number and mistakes DO happen in everyone. That’s right, if you’re reading this, you have a genetic mutation.On This Episode We Discuss:Your genetic alphabet – nucleotidesHow to think about DNA ReplicationTypes of mutationsWhat is an SNP and why you should careIndelsThe genetic codeHow genetic information is translated into a protein

Sharing Hope Through Storytelling & Connection with Shanna Tolbert

What's one way to spread hope? By sharing your experiences and connecting with others who truly understand the everyday challenges nano-rare patients face. Shanna Tolbert was one of five nano-rare patient caregivers who participated in the panel, The Perilous Journey to Diagnosis and Treatment for Nano-rare Disease Patients. Listen to Shanna’s take on the importance of dialogue and relive a few patient stories as told by the parents who participated in this panel.On this episode, we discuss:0:56 The importance of hope3:38 Meeting other nano-rare caregivers and staying connected6:48 The Nano-rare Patient Colloquium is intimate 12:41 Patients in attendance are one of the joys of the NRPC16:35 Patient Journey - Connor20:55 Patient Journey - Mostyn25:27 Patient Journey - Lena32:32 Patient Journey - Ireland39:29 Comments from patient father, Luke RosenVideo: Susannah's Story: Treated with an ASO

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.