Patient Empowerment Program: A Rare Disease Podcast n-Lorem Foundation

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

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

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

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

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 hope
3:38 Meeting other nano-rare caregivers and staying connected
6:48 The Nano-rare Patient Colloquium is intimate 
12:41 Patients in attendance are one of the joys of the NRPC
16:35 Patient Journey - Connor
20:55 Patient Journey - Mostyn
25:27 Patient Journey - Lena
32:32 Patient Journey - Ireland
39:29 Comments from patient father, Luke Rosen

Video: Susannah's Story: Treated with an ASO

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 symptoms
25:55 How Sarah heard about n-Lorem
29:30 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 hopeless
32:58 What Sarah has learned while at n-Lorem
36:48 The biggest surprises Sarah has encountered during her journey at n-Lorem