alpha 1 antitrypsin

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When my father got sick, I was too young to understand what was going on.  I don't think my mother even understood.  She had two children under six years old and a 31 year old husband who couldn't breath, had horrific open wounds on his body and the doctors couldn't figure out what was wrong with him.  She had no familial support and her friends basically abandonded her.  When he died a few months later, she struggled to cary on.

I eventually learned the name of the disease that killed my father.  Later on I found out that his brother had it as well.  I didn't understand why Uncle Paul was health when my father had withered and died.  When I got pregnant with my son, the doctor asked me if I wanted the genetic test to see if my baby had the disease.  I asked why.  She explained that some people would abort a baby that had a genetic disease.  I knew I would love my baby no matter what so I declined the test.  

I had always been prone to upper respiratory issues and probably had pneumonia numerous times as a child but, not having insurance until later in life, I was never diagnosed with anything.  As a working adult with insurance, I finally got the genetic testing after yet another round of pneumonia.   My pulmonolgist explained that I did not have the gene for alpha 1 antitrypsin.  I was so relieved as that meant my son couldn't have it, either.  Neither of us would experience the painful open sores that never healed, a horrific side effect some people with alpha 1 experience.  

Fast forward many years and my sister finally gets the genetic testing through a research program.  She finds out that she does have the gene, MZ.  Having the MZ gene means that she has the disease but it is not active.  She is highly susceptible to any lung disorders.  Alphas are the only people known to get COPD without smoking.  She encourages me to join the research program as well.

Low and behold, I find out that had had been misdiagnosed.  I do have the disease and that I, too, am an MZ carrier.  I learned that my father was a ZZ, the mutation that killed people until recent medical breakthroughs started saving lives.  I lucky that I am alive and that my son is strong.  We have to be very careful around any form of pollution which is difficult considering that we live in a tiny town with several refineries.  The flu and pnumonia vaccines have proven helpful.  I push through asthema attacks and force myself to excersize harder - after all, lungs are muscles that we can strenthen.   I discovered that the missing protein that causes the disesase is manufactured in the liver so drinking is out of the question.

The older I get, the harder I work to maintain my health.  I treasure every breath! I only have one life and I'm going to live it to the fullest no matter what comes at me!