It’s a Genetic Thing: Alpha 1

In 1989, my youngest sister through labs was told she has low Antitrypsin counts and perhaps she and siblings should be tested for Alpha 1 Antitrypsin Deficiency. We had family doctors test us even though they themselves had never heard of Alpha1. The results: Yes, you do have this, but you’re healthy so keep doing what your doing in life. My older sister and I grew up working at chicken farms, and still worked there when diagnosed.

She was a smoker. Six months after diagnosis, my older sister, age 27, had a collapsed lung from pneumonia, was diagnosed with stage 4 COPD and our journey into Alpha 1 began. It took 10 excruciating years for her to fall to 10% lung function and Stage 4 COPD the symptomatic lung disease from Alpha 1. I was her caregiver, watching her was scary and a good look at my future. In 2002, she finally got her lung transplant.

Fast forward, 2006, I was diagnosed with Stage 3 COPD caused from my Alpha 1. At age 38, I became a disabled single mother of three. I was beside myself. Although taking care of my sister had prepared me, I never imagined how terrifying not being able to breathe really was. You just don’t know until you have walked a day in those shoes. Now, 2016, I am stage 4, on 4 liters constant flow oxygen, and working towards my own lung transplant. At 27% lung function, I am an active support group leader for the State of Maine and an Advocate for Alpha 1 Awareness and COPD . It keeps my days busy and my mind focused. Pulmonary Rehab and exercise a must. So if you are young, and have been diagnosed with COPD be sure you are tested for Alpha 1. There is therapy to slow the progression of your lung disease. For more information, go to www.alpha1.org.

This article represents the opinions, thoughts, and experiences of the author; none of this content has been paid for by any advertiser. The COPD.net team does not recommend or endorse any products or treatments discussed herein. Learn more about how we maintain editorial integrity here.

Comments

View Comments (3)
  • Rich
    3 years ago

    Hello u know I was at the blood lab at the Rt’s lab and having and AGB and she asked if I had been tested she said they were giving free tests for Alpha 1 I guess they are trying to get data on this I didn’t know to much about it but it is interesting and I had read about it ,what I want to say is in 2014 in the month of Dec. I started a regiment of drug called Harvoni it is for Hept C in which I had since I was very young from a tattoo tried to eradicate it in 2000 but was unsuccessful at that time the science wasn’t there so just recently they came out with this new cure drug and I was on it for 12 weeks the cost was crazy over 98,000 but it worked I have been free from this virus for over two years now what this has to do with Alph 1 is I’m sure weather it had something to do with my Respiratory failure which landed me in the hospital for over three months and worsened my copd because about three months after finishing the drug I went into failure and almost loss my life 6 weeks in a coma just don’t know but what make me wonder is that Alpha 1 for what I understand protects the lungs, being I was diagnosed long before the I did treatment I think maybe people should be tested for Alpha 1 before doing treatment and it needs to be addressed because with lung disease it may be something u can’t take u have concider all drugs can’t be tested under all Constances and diseases so just saying I think it needs to possibly looked at for complications because Hept C is a liver Diease and if u read about alpha1 that’s where it effect s the liver and the lungs ,but if u are in that situation make sure u thurly talk to your Dr. Just a warning ,

  • alpha1val author
    3 years ago

    Yes, it is very important for any person with diagnosed liver or kung disease be tested for Alpha 1. I am sorry you have suffered and do hope that you van be tested and if diagnosed receive Augmentation therapy to slow the progression of disease to your lungs.

  • Leon Lebowitz, BA, RRT moderator
    3 years ago

    Hi alpha1val and thanks so much for sharing your story with our online community. You are always welcome to come here for support, scientific information, and to share others’ stories as you did with us.
    You may find these two articles on alpha1-antitrypsin to be very helpful:
    First this one on COPD and genetics (referenced in your story): https://copd.net/basics/causes-risk-factors/genetics/

    And then this one on Prolastin:
    https://copd.net/treatment/medication-overview/medications/prolastin-c/
    We are glad that you are here and look forward to your continued participation.
    Warm regards,
    Leon (site moderator)

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