46 Doctors and Counting: Why Can’t Anyone Figure Out My Disease?

By Chelsea Freund

I first became sick in July 2010 at age 36 while living in Phoenix, Arizona. I was suddenly struck by intense vertigo and fatigue. Within a few weeks, my face developed partial paralysis across the forehead and left eye, ptosis in both eyelids, slurred speech, toes pointing inward when walking, and tremors in my neck that forced me to constantly nod “yes.” I have autoimmune conditions including Hashimoto’s thyroiditis and alopecia universalis, so I have always thought that this was another manifestation of an autoimmune condition.

It took me until May of 2011 to find a doctor who would work on me and possibly provide a solution. A neurosurgeon with Barrow Neurological in Phoenix decided I was a good shunt candidate because after performing two lumbar punctures in four days, my symptoms cleared for 12 hours each time. My first shunt surgery was in July 2011. However, within 46 months I had a total of ten surgeries: 6 LP shunts, 2 cisternoperitoneal shunts and 2 VP shunts were all clogged or broken down by my body, some within weeks of being implanted. I was growing scar tissue in four weeks that was normally seen in patients after 20 years. My neurosurgeon decided to stop operating on me because shunts no longer seemed like a viable option. He also determined that he would not actually be able to diagnose my disease, and that I should pursue answers from other specialties.

I moved back to my home state of Minnesota hoping that I could be seen at the Mayo Clinic in Rochester. Unfortunately, they have turned my case down a total of five times, saying I’m “too rare to diagnose or treat,” so I can’t even walk through the door. My case has been taken up by the University of Minnesota physicians, who I hope will provide connections with research and resources. From July 2010 until today, I have seen a total of 46 doctors in 8 specialties in both Arizona and Minnesota. Most have told me they can’t help me and not to return. Not having a diagnosis is not only dehumanizing, it’s making my case for disability that much harder – and my money is dwindling to nothing. Every day I spend my time laying flat on my bed because then the CSF can’t pool and press on my brain stem and the nerves leading to my face. Now the only places that give me hope I’ve contacted online via Twitter. I have nothing better to do besides rest and try to make connections with people and organizations I think can possibly help me.