Stanford
Research to the People
Christine

Undiagnosed & Rare Disease

Winter 2024. 

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Christine

Multi-Omics Data For Rare Disease

The first in a series of films documenting Christine's Case. Christine discusses her journey as a rare disease patient with unresolved needs. Dr. Michael Snyder introduces the FPOP study and gives his perspectives on patient data and what is needed for precision medicine. Multi-Omics data from the FPOP study will be available for Christine's case.

Introduction

Christine is a 48-year-old woman who suffers from a complex combination of rare/genetic/autoimmune disorders that started when she was 5 years old. She has been through a long health journey of misdiagnosis, ineffective treatments, and severe complications. 

Christine’s medical history began with a diagnosis of Epiglottitis, a life-threatening infection that causes swelling of the epiglottis, the flap that covers the windpipe. This infection activated an abnormal immune response and health complications. She has subsequently been diagnosed with:

These conditions have caused chronic inflammation, pain, and damage to various organs and tissues in her body.

For 14 years, Christine received hundreds of apheresis treatments using fresh frozen plasma to treat TTP. The goal was to remove antibodies and inflammatory mediators that were causing her symptoms and organ damage. Now she is interested in exploring if any of these treatments could be linked to infections, allergic reactions, blood clots or more. TTP was resolved upon removal of her spleen.

In 2020 Christine was diagnosed with left ventricular non compaction, a genetic inherited form of heart disease, through imaging. However, genetic analysis has not yet  revealed markers for this condition. 

Christine's case is challenging and unique, as there is no clear cause or cure for her underlying disorders. The interactions and side effects of her medications and treatments are difficult to predict and manage and many of the medications used to treat the symptoms of her disease have added other comorbidities and risk factors. She requires close monitoring and adjustments of her therapy to achieve optimal outcomes and quality of life.

Christine is optimistically hopeful. “In the face of uncertainty, I find solace in the belief that a collaborative effort between patients, researchers, and healthcare professionals is what is needed; a step towards a future where diseases are met with understanding, innovation , and ultimately, hope for us all.”

In 2018 she moved her care to Stanford Medicine, where deeper data generation and analysis are being conducted. 

Christine’s case is open to advanced researchers anywhere in the world. 

Data

Key People and Collaborators