The Diagnosis

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Near the top of the list was something called Alpha 1-Antitrypsin Deficiency (AT-D). When Dr. Wayman described the symptoms they seemed to fit precisely, not just now, but symptoms I had lived with my entire life.  They say when you hear the truth you recognize it and in the back of my mind I “knew” that this was the right diagnosis.  The test results were a long time coming.  The test takes about two weeks and the first blood draw was lost or missed processed so they had to redraw the blood.  Almost six weeks later the test results were available.

Dr Wyman’s office called me at the office to setup a consultation to “discuss” the results.  I have had enough experience with lab tests to know that when they are good there is no need to “discuss” the results.  Anxiety over took me.  To make things worse we had a scheduling conflict.  I would be out of town the two days Dr. Wyman was at the local clinic.  They agreed to fax me the results and have the him call me, but his schedule would prevent him from calling until tomorrow.

My attention was focused on my email inbox as I waited for the fax to arrive.  The 5 minutes felt like hours.  I opened the fax, clicked past the cover page to the results,  “homozygous PI*Z alleles.”   Time stopped.  This is what I had expected but at the same time dreaded.  I was transfixed, like a scared antelope frozen and unable to move in the face of charging lion.  I had done my research, I knew what the results meant.  This was as bad a AT-D got.  While generally manifest as a respiratory disease in a small percentage of cases it caused progressive liver failure and cirrhosis.  I was now one of the small percentage.

A feeling of devastation overcame me.  This was nothing I didn’t expect but seeing it on that lab results sheet was more than I could take.  Dr Wyman called me in less than hour, this was totally unexpected.  The office had been careful to tell me that he wouldn’t have time to call me until tomorrow.  He didn’t have too much to “discuss,” just that he wanted me to see a Liver Transplant specialist at the University of Wisconsin Madison.  He would forward them my file and have them get me in as soon as possible.

What had just happened?  My world was spinning out of control.  I had to leave my office.  Driving home I was truly overcome with emotion.  Tears streaming down my face I felt totally alone.  Julie’s sister and her family were visiting and I couldn’t destroy her day too.  There would be plenty of time to discuss this after they were gone.  The house has never felt so big and empty as it did this afternoon.  My mind kept replaying the test results, the conversation with the doctor.

The results were what I expected but I was totally unprepared.