with Dr. Wendy Chung and Luke Rosen
May 25, 2022
“Susannah may be one in a million, even one in fifty-million, but that doesn’t mean we leave her behind.”
Stan Crooke talks to Luke Rosen and Wendy Chung about Luke’s daughter, Susannah, a bright and bold n-Lorem patient. Susannah has a unique genetic mutation, KIF1A, that is progressive and debilitating. n-Lorem is hard at work discovering and developing a personalized experimental ASO medicine just for her. Her doctor, Wendy Chung, and Luke discuss Susannah’s extremely difficult life, scary diagnosis, heartbreaking disease progression, and the uniting hope they share that she’ll make significant strides during treatment that lead her towards a better life.
On This Episode We Discuss:
- Susannah’s journey to a diagnosis
- KIF1A – and what a mutation in this gene means
- The difficulty of living with a nano-rare disease
- Susannah’s courage and joy
- Finding an effective treatment for Susannah
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Allow us to introduce the host of the show, Dr. Stanley Crooke, a scientist, physician, entrepreneur and the father of antisense technology. Dr. Crooke is responsible for driving the development of antisense or ASO technology, an RNA-targeted technology responsible for the commercialization of three first-in class medicines and more than 40 drugs currently in development. In 2020, Stan formed n-Lorem to use this powerful technology to develop personalized ASO medicines for nano-rare patients (1 to 30 patients worldwide) for free, for life.
In today’s episode, Stan is joined by Luke Rosen and Dr. Wendy Chung to talk about Susannah’s journey and fight against KIF1A. Shortly after Susannah was born, Luke and his wife Sally saw abnormalities in their daughter and knew something was extremely wrong. She was later diagnosed with a debilitating nano-rare disease called KIF1A. Luke was horrified of his daughter’s diagnosis because of frightening language, such as ‘early death’, that was included within the extremely minimal literature available for his daughter’s nano-rare genetic mutation. It was hard for him to digest and absolutely heartbreaking for the entire family. Scared and confused, the Rosen family was directed towards Dr. Wendy Chung to articulate exactly what was going on with their daughter’s health. Upon caring for Susannah while guiding and comforting the Rosen family, Dr. Chung submitted an application for Susannah to n-Lorem for her to receive a personalized experimental medicine for free, for life, in the hopes that it will potentially reduce the severity of her hardships.
As Susannah has aged, her symptoms have progressively gotten worse. She has regular seizures, weak muscles cause her to lose balance and severely injure herself, and she struggles with cognition. Because of this, she is rarely able to attend a full day of school without problems and there is a constant unknown about what tomorrow will have in store for her. Dr. Chung heavy-heartedly conveys that Susannah has tightness and burning sensations in her hands and feet that never completely go away and is losing her eyesight at age 7. At such a young age, Susannah’s life is hard and she has many things working against her, especially the clock.
Dr. Chung expresses that n-Lorem developing Susannah’s personalized medicine is no small task. It needs to be developed in a way that suppresses the bad KIF1A protein but still allows for the development of necessary good protein. However, Wendy and Stan are convinced that with the years of experience the n-Lorem team brings and with the advancement in technology, that n-Lorem is on the right track toward providing her with a quality personalized medicine. To Luke and his family, n-Lorem is a sign of hope may potentially change the course of Susannah’s life.
UPDATE: Susannah received her first dose of a personalized experimental ASO medicine in October 2022. This medicine was discovered and developed for her unique gene mutation.
Wendy Chung, M.D., Ph.D., is the Kennedy family professor of pediatrics in medicine and chief of the division of clinical genetics in the department of pediatrics at Columbia University Medical Center, medical director of Columbia Genetic Counseling Graduate program, director of the clinical cancer genetics program at Columbia, director of the Pediatric Neuromuscular Network Molecular Core and the New York Obesity Center Molecular Genetics Core. Dr. Chung is a ‘Partner in Excellence’ — a collaboration with Columbia University Irving Medical Center and the n-Lorem Foundation focused on providing nano-rare patients with the highest quality healthcare and treatment. Check out all the great work from Dr. Wendy Chung and her lab at Columbia by visiting wchunglab.com.
Luke Rosen is the co-founder and board chair of KIF1A.ORG, a rare disease community advocate, former actor on film and television, firefighter in the Sag Harbor Fire Department, and father to Susannah. If you want to learn more about KIF1A and the organization Luke and his wife, Sally, founded visit kif1a.org. You can follow Luke on Twitter @lukebrosen.
Hosted by: Dr. Stan Crooke.
Videographer: Jon Magnuson of Mighty One Productions.
Producers: Kim Butler, Colin Delaney, Kira Dineen, Jon Magnuson, Andrew Serrano and Amy Williford
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We hope that you join us on this journey to discover, develop and provide individualized antisense medicines for free for life for nano-rare patients. The ultimate personalized medicine approach – for free, for life.
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