Long Awaited Diagnosis

For months and months I prayed for a diagnosis, an explanation of some sort in hopes of a treatment. Monday afternoon at 4:00pm, the moment that we had been awaiting arrived. As Dr. Goodman walked into the room I could feel that he had a diagnosis, a name for this illness. As he began describing what was happening to my body, based on test results, he explained that what I have is such a rare disorder/disease that there is not yet an official name for it. He personally has treated 8 patients in the past five plus years for this disease. No papers have yet been written, although Mayo does recognize and somewhat understands this disease.

My diagnosis consists of a combination of Autonomic Neuropathy, mixed with non-existence of Catecholamines (Dopamine, morepinephrine and epinephrine), and the breakdown of my central nervous system. He stated that he has only seen this is a couple of other patients and all were treated within the first four months of onset. My onset was a year ago. He explained that we are in uncharted territory because of how progressed this disease has come combined with the longevity of my body having had experienced the symptoms. Not a good combination.

In other words, we were given a treatment option with a disclaimer of he had no idea if it would work or how well. We had two options.... do nothing, treat symptomatically and minimize my discomfort. Or, we can try an experimental treatment. It is an IVIG transplant of my hemoglobin, gamma globulin, and antibodies, etc. I have 10 to 20% odds of the treatment working to stop the disease from progressing any farther. However, with this treatment comes HUGE and SIGNIFICANT side effects including, transplant rejection, kidney failure, aseptic meningitis, and any of those would likely result in death (70% chance) due to my weakened state.

Thomas and I left Mayo Clinic in shock. We found out that my body is literally killing itself piece by piece, nerve by nerve, organ by organ. My body has no idea what is good and useful within my body and what is bad, so it is attacking everything and beginning to shut down organs and all autonomic functions ie: blood pressure, heart rate, pain sensors, swallowing, breathing, internal thermometer, urinating, digestion, heat intolerance and more....

So, we are supposed to choose taking a medicine for each of those conditions, and any others as the pop up or we try to stop the autonomic system with an aggressive treatment that may or may not work and has a huge risk of death.

What odds are those? I am supposed to choose my body killing itself a day at a time, or go get a complete immune system transplant, that in my weakened state that I only have a 20% chance of it working? If it doesn't work.... death, sooner than later. In my mind, this was NOT the diagnosis or explanation that I was so frantically searching for.

Tears were shed on the way home and throughout that night. Prayers were offered, pleadings with my Savior took place for Him to give me some resemblance of peace and assurity that I would be okay. Peace came but not with an assurance of many more tomorrows.

Tuesday evening was spent in the temple trying to receive inspiration from my Father in Heaven and Savior as how to proceed with treatment. Thomas has overwhelming peace that it is all going to be okay. For me, it took time. I wanted some overall peaceful feeling.. instead, I kept being directed back to a priesthood blessing that I had received earlier... wherein the blessing was giving me answers, "it will work and you will be okay". I tried putting that sentence into the different scenarios. Only one worked....if I try the treatment, the Lord has said it will work, and furthermore I will be okay. Good enough for me... I contacted the autonomic neurology office and told them to please schedule treatments.