Challenges of a Rare Disease

 Living with a rare disease can be unsettling.   In my case, I diagnosed my disease and took the results to my doctor, who then confirmed my diagnosis.  The problem comes when you have done a ton of research and your doctor studied Alpha 1 Antitrypsin Deficiency one semester in med school a long time ago, but has never dealt with it personally.  On many occasions when I was being treated in a doctor's office, emergency room or in the hospital, I had to explain the disease to the medical staff.  When one of them gives you off-the-cuff information and you've read the medical studies that refute the information, you feel pretty vulnerable and frustrated. I learned I had to be my own medical advocate early.  

My first experience with liver failure and doctor error occurred in the summer of 2015, I just didn't know that's what it was.  I was hospitalized for 3 days locally and asked the attending physician to make sure my liver was okay, because I knew Alpha 1 is a liver disease.  He didn't take it seriously; said I was overweight and had some fatty liver; then diagnosed me with gastroenteritis.

  Early in 2016, I was again severely ill with abdominal pain, right shoulder pain, vomiting, and shortness of breath, but this time I didn't waste energy on the local hospital.  I went to a UPMC facility, and the doctors there heard me.  Once again, no one really knew what Alpha 1 was, but they figured it out and sent me to a specialist.  After a biopsy and a month of waiting for the results to come back from analysis at the Mayo Clinic, my suspicions were confirmed.  I had Cirrhosis, Stage 4, caused by Alpha 1 Antitrypsin Deficiency.   The only cure would be a liver transplant... if my lungs could stay healthy enough and hold up to a transplant.  (I've since learned you can get both a liver and lungs, but that's the information I was given at the time.)

Did you know that when you are faced with terminal illness that you go through the same stages of grief (denial, anger, bargaining, depression and acceptance) that you do when you lose a loved one?  I did know that in the back of my mind, but I didn't apply it to myself for quite a long while.  Perhaps I was in denial.  Perhaps I had faith.  Perhaps it was a little of both.  I saw Cirrhosis as a black cloud on the horizon threatening to bring in a bad storm.  I kept my chin up, my back to the cloud and just kept right on with life... until I'd deal with a bad flare up and end up in the hospital.  Deep inside, I believed I would make it to transplant then everything would be fine.

2016:  I stayed pretty active, but developed a relationship with my hammock on sick days. 

Left:  Me in my hammock on Mother's Day

Right:  Climbing the rocks at Freedom Falls with my hubby on July 4th.