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

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.”

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?

How will I cover my bills and keep a roof over my head when my hours get cut to 20 starting next week (she works as a temp) because of time missed for Cherise’s hospital stays and doctor appointments?

When will I ever afford to have my car repaired? Will it make it to work? Will it get repossessed?

Will the public understand when I ask for help? I am a single mother who has always worked hard and provided for her two girls without help from the government.

Will she live a long life? Will she always be in pain?

There are many challenges at play here, but so many people have already stepped up to help. The staff at the Medusa Salon on Brookhurst Street have worked tirelessly to raise funds, and many others have pitched in as well. Fundraisers and other events have been held to support what may be the best fighting chance Cherise has to get the answers she needs: a trip this October to the Mayo Clinic in Minnesota.

Renee told me that doctors there feel that they may be able to provide Cherise with some much-needed care to help combat the effects of this little-known disease. Mayo Clinic neurologists are trained in autonomic neurology. Her symptoms are now developing into diseases and conditions that are irreversible, and so proper diagnose and treatment to stop the progression is critical. But it is a very expensive trip and process.

The day I visited, Cherise was wiped out because of a silent auction put on by friends and family that had taken place a couple of days before. Barely able to speak above a whisper, the bright-eyed redhead told me that part of her goal in life is to become an expert on this disease so that she can help create awareness and help others.

Her sweet disposition and positive attitude, despite these painful challenges, provided a wonderful insight to this remarkable young lady. Nothing is easy for this child right now, yet she displays a maturity and composure far beyond her years.

A fund has been created to get the family to the Mayo Clinic. Click on this link to contribute:

https://www.gofundme.com/3etgkk

And here’s a video where Cherise talks about her illness and what it is doing to her life:

https://youtu.be/vsBuveubIxw

Over Labor Day, Renee wrote me that Cherise was taken to the intensive care unit at a local hospital. She had a severe respiratory attack at home and was rushed to the hospital, a repeat of a situation that took place several months ago.

She was in ICU for 12 days back then, and as of this writing, she’s been hospitalized for four. My daughter and I paid a visit and Cherise, though weak, was just as focused and polite as she had been the week before at her house. And of course, mom was right by her side, doing all she can do.

Renee told me later that during Cherise’s physical therapy session, she walked just 4 feet, twice, and her vision went blurry, her heart rate soared and stridors (noisy breathing) kicked in.

This is a tough situation. I know that Renee appreciates the power of prayer and relies on a deep and abiding faith to pull her through the toughest moments. As does Cherise. So whatever you can offer, know it will be put to good use.

CHRIS EPTING is the author of 19 books, including the new “Baseball in Orange County,” from Arcadia Publishing. You can chat with him on Twitter @chrisepting or follow his column at www.facebook.com/hbindependent.