那天是玛丽·皮尔斯的40岁生日。那天，她站在厨房里，电话铃响了。改变她生活的不是一个朋友的祝福，而是来自她医生的消息。
“我是正确的,”他说。你有一种叫做-1抗胰蛋白酶缺乏症。这是遗传的。
多年来玛丽一直在与[气短]作斗争(//www.lacosti.com/stop-smoking/copd-000070_3-145.html)，反复的肺部感染，严重的，无法解释的体重减轻，以及她对体力活动的耐受性大大下降。她一直在自责。”当我开始出现症状，主要是体重减轻和呼吸急促时，我想，“你这个笨蛋，你必须停止这一切。在你[戒烟]之前没有医生能为你做任何事(//www.lacosti.com/stop-smoking/c/88905/28927/quit-smoking)”她突然想起一个朋友从加利福尼亚来探望她。去打网球是这个朋友的主意。玛丽只跑了三个球就遇到麻烦了。她想，“嘿，这是怎么回事？我不能呼吸“但在那一刻，她不能承认自己呼吸困难，更不用说向她的朋友承认了我假装说，真的太热了。让我们不要玩了。“她那天不打网球的原因是她觉得她必须为自己不能做健康人通常认为容易做的事情找借口的第一个。在接下来的十年里，玛丽试图戒烟。她参加了几次戒烟课程，虽然每天减少到半包左右，她还是继续抽烟。但她的呼吸没有好转。随着时间的推移，玛丽仍在减肥，并向家人、朋友和同事隐瞒她日益严重的呼吸急促。”我尽我所能假装一切正常。”由于生活在肺功能下降带来的限制下，承受着吸烟和无法戒烟的罪恶感，带着否认自己正在损害肺部的耻辱，再加上隐瞒一切的负担，玛丽默默地遵守了自己的建议。”我得戒烟了。除非我戒烟，否则什么都不会发生。我只是承担了所有的责任。我是个虔诚的天主教女孩。我把所有的内疚都推到自己身上了。我对自己说，别指望别人来帮忙。我得自己动手。我的吸烟就是这样做的。[肺气肿](//www.lacosti.com/stop-smoking/copd-000070_5-145.html)还有她患肺癌的妈妈(//www.lacosti.com/stop-smoking/lung-cancer-basics.html)还有肺气肿。她丈夫的父亲也死于肺癌和肺气肿。玛丽的父母都抽烟。她回忆起叔叔阿姨们过来打牌，屋子里全是烟。她自己大概13岁就开始抽烟了。所以你可能会认为这确实是她的错。但不是这样。她当时不知道的是因为她有[A-1AD缺陷](//www.lacosti.com/stop-smoking/copd-000070_2-145_2.html)，她的肺缺乏保护，不受吸烟和其他环境刺激物的影响。损害正在加速发生。它对她的肺的破坏性要比肺正常的人大得多。玛丽30岁时正在发育一个老妇人的肺。“有一次我整个周末都坐起来，在椅子上挣扎着呼吸，真的很挣扎。我想，伙计，如果我不得不这样生活，我不想再活下去了。星期一早上来了，我打电话给医生。那时我体重99磅。他看了我一眼，说：“你太年轻了，不可能得这么多肺病。”“~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~回到我们故事开始的时候，医生接着说。”你有一种叫做α-1抗胰蛋白酶缺乏症。这是遗传的。他们正在国立卫生研究院做一些实验性治疗。我们可以试着让你参加临床试验。“这给了我一些希望，”玛丽说然后他说，他们也开始做肺移植了！这是唯一告诉我情况有多糟的一件事n visualize myself standing in my kitchen, hanging the phone up, and saying to myself, 'OK, what do we do now? What do we do to make this go away"" Over 20 years after Mary got that call, although progress has been made, Alpha-1 Antitrypsin Deficiency remains vastly under diagnosed. Awareness of the disease is abysmal, even within the medical community! Patients with Alpha-1, see on an average, six doctors before being correctly diagnosed. We can - and must - do better! Don't let guilt and shame keep you from seeking help. Whether or not you smoke, take this [A-1AD assessment](//www.lacosti.com/stop-smoking/quizzes-tools-253620.html) and take charge of your lung health. You can do it. Start here. Start today. [](http://www.alphaone.org/news/17th-annual-education-conference%20) To read the rest of Mary's story, the inspiring story behind the creation of the Alpha-1 Foundation, and more, read [Breathe Better, Live in Wellness: Winning Your Battle Over Shortness of Breath](http://www.breathingbetterlivingwell.com)[.](http://www.breathingbetterlivingwell.com) **Alpha-1 Facts** * Alpha-1 Antitrypsin Deficiency (A-1AD) is one of the most common serious genetic conditions in America and is more common than Cystic Fibrosis. * Alpha-1 can cause liver disease in children or severe liver and lung disease in adults, most often causing early Emphysema. * It is estimated that only 6,000 of the estimated 100,000 Americans with Alpha-1 have been diagnosed. * An additional 21 million Americans are estimated to be genetic carriers of this disorder. * Since 1996 the World Health Organization has recommended that all individuals with COPD and adults and adolescents with asthma should be tested for ATT Deficiency. Source: Alpha-1 Foundation [www.Alphaone.org](http://www.Alphaone.org) For information about confidential diagnosis, go to: [http://www.shortofbreathgettested.org](http://www.shortofbreathgettested.org) [www.alpha1.org](http://www.alpha1.org) -- Alpha-1 Association [www.alphanet.org](http://www.alphanet.org) -- A not-for-profit disease management company [www.alphaone.org](http://www.alphaone.org%20)[ ](http://www.alphaone.org%20) -- Alpha-One Foundation [www.alphaoneregistry.org](http://%20www.alphaoneregistry.org) -- Alpha-1 confidential research registry [Annual Alpha-1 National Education Conference](http://www.alphaone.org/news/17th-annual-education-conference%20)