Rosie was the first of three HNRNPH2 patients to receive treatment with an n-Lorem ASO, helping to pave the way for others. Her parents, Nicole and Bobby, share their daughter's journey and how they have adapted as a family to meet her unique needs. As a pediatrician, Nicole understands the complexities of medical care, yet she acknowledges that even she doesn’t always have the answers when it comes to raising a child with a nano-rare disease—a reality that resonates with many nano-rare families. On this episode we discuss:

2:00 Bobby left his job to help care for Rosie full-time

7:36 Nicole is a pediatrician and it’s difficult for her to not regularly attend Rosie’s appointments

11:16 Rosie’s diagnosis of HNRNPH2

16:00 Even as a pediatrician, Nicole finds nano-rare diseases complex and difficult to navigate

19:29 What is HNRNPH2?

26:40 Coming to terms with the diagnosis

29:35 Weighing the potential risk/benefit and making the decision that Rosie will be the first HNRNPH2 patient treated with an experimental medicine

37:05 How Rosie is doing after three ASO treatment doses

40:35 Potential for a placebo effect and allowing multiple observers to notice changes

Donate to n-Lorem: https://www.nlorem.org/donate/ This episode is brought to you by Hongene Biotech: https://www.hongene.com/

Sloane was born with a KIF1A mutation and is a special case at n-Lorem—she was the first patient to receive a medicine originally designed for someone else. Her mother, Megan, and grandfather, Tom, join the Patient Empowerment Program to share her journey and provide an update on how she’s doing six months after treatment.

On This Episode We Discuss:

• Sloane’s KIF1A diagnosis
• Nano-rare diseases affect the entire family
• Sloane was able to use the same ASO as another KIF1A patient
• Finding n-Lorem through KIF1A.ORG
• Shocked that n-Lorem was able to create personalized treatments efficiently at cost
• Sloane’s case is unique in a variety of ways and the decision to treat
• How Sloane has responded to treatment
• Are better measurements of benefit needed for nano-rare patients?
• How Sloane has brought empathy, joy, and positivity to her family
• Tom unretired to help fund research and support
• The origins of ASO medicine is a long haul

Thank you to Hongene Biotech for sponsoring this patient story episode!

Make Hope Possible for nano-rare patients with a donation to n-Lorem.

Five years of creating medicines, instilling hope, and overcoming steep challenges—all with the singular goal of improving the lives of nano-rare disease patients. Along the way, we’ve proven that WE CAN treat these patients safely and effectively, delivering significant benefit. But what else have we discovered throughout this journey?

Thank you to Hongene Biotech Corporation for sponsoring this 5-Year Anniversary episode. On This Episode We Discuss:

- We CAN do this

- n-Lorem is proof of the value of investing in science

- We can treat nano-rare patients safely

- The nano-rare patient population is large

- We must introduce genomic sequencing into newborn evaluation

- Most nano-rare diseases are more prevalent than we think

- Most diseases are a composite of multiple mutations in one or more genes

- A non-profit model in which patients are treated irrespective of their financial status is feasible

- Nano-rare mutations are spread throughout the genome

- Nano-rare mutations can affect any organ

- Essentially all types of mutations can cause nano-rare diseases

- Most nano-rare patients express severe, chronic, debilitating, progressive diseases

- The journey to diagnosis is often unique, long, and perilous

- Significant benefit can be achieved

- ASOs administrated intrathecally for CNS diseases can result in profound benefit - ASOs can result in durable benefit

- Many patients require allele-selective ASOs

- The community is strong

- Industrialized processes created by n-Lorem is delivering great value

- The modified cross-over clinical design created by n-Lorem is delivering high quality data

- If we raise the funds, we can meet the demand Donate: www.nlorem.org/donate