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In the Pipeline: Strength is a must to fight rare disease

September 05, 2013|By Chris Epting
  • Cherise Sheffner, 16, has a rare disease called dysautonomia. Her mother Renee is hoping to get her to the Mayo Clinic.
Cherise Sheffner, 16, has a rare disease called dysautonomia.… (Courtesy Renee…)

Cherise Sheffner is 16 and until last year attended Huntington Beach High School (and was part of the Academy of the Performing Arts program).

But she’s been home this year, unable to attend school because of an obscure, debilitating disease called dysautonomia.

It started in January 2012, when Cherise started experiencing severe tunnel vision. After 10 months of testing, doctors could not pinpoint any cause and wrote the complaints off to stress. Later that year, severe stomach pains began, and in December 2012, Cherise suffered a minor stroke. While in the hospital, she also had a series of severe seizures.

I had never heard of dysautonomia before. The Dysautonomia Foundation defines the disease as the “dysregulation of the autonomic nervous system. The autonomic nervous system is the master regulator of organ function throughout the body. It is involved in the control of heart rate, blood pressure, temperature, respiration, digestion and other vital functions. Dysregulation of the autonomic nervous system can produce the apparent malfunction of the organs it regulates. For this reason, dysautonomia patients often present with numerous, seemingly unrelated maladies.”

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And that’s it in a nutshell. The patient often experiences a variety of unexpected system disturbances coupled with severe fatigue and an inability to do anything that requires even minimal physical exertion.

For Cherise and her mom, Renee, the past year and a half has been a highly unpredictable journey. Cherise’s dad passed away a number of years ago, and Renee has worked tirelessly on her daughter’s behalf in the face of some truly frustrating moments. As she explained to me, so little is known about this disease that in many cases, sufferers have ended up educating doctors and nurses based on their own experiences.

When I visited their apartment last week, it was obvious that this disease has created an even deeper closeness than the average mother-daughter relationship. Before I visited, Renee shared with me a list of some of her biggest concerns as she struggles to make sure her daughter has everything she needs. Some of the thoughts that stood out:

Who can be with her today while I work — just in case she has a stroke again, or collapses and hits her head, or goes into respiratory distress?

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