Patient Comments: Alpha-1 Antitrypsin Deficiency: Symptoms

What symptoms did you experience with alpha-1 antitrypsin deficiency? How old were you when they appeared?

Comment from: pravin, 19-24 Male (Patient) Published: June 12

It's been a year and I couldn't get a bit of relief from chronic bronchitis caused by alpha-1 antitrypsin deficiency. And since 4 or 5 months, I can hear wheezing, and even a person next to me can hear as well. The doctor is treating me with same medication over and over again. I am having shortness of breath problem. I am so sick of this.

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Comment from: Patti1959, 25-34 Male (Caregiver) Published: July 14

My son, Tyler who is just 31, was recently diagnosed with alpha-1 antitrypsin deficiency. It showed itself after he had done two tours of duty in Iraq. It has been said that the chemicals and toxins he inhaled and ingested while there exacerbated his illness. He receives infusions weekly. He has lost 8 teeth during this time and a considerable amount of weight in a very short time. He has panniculitis and frequently develops boils. I do not know if the tooth loss and boils are related to the illness or not. He is on many medications, uses 3 inhalers daily and is fatigued most of the time. He tires easily. I am his mother and it was very difficult for me to hear he had this illness as I carry one of the chromosomes that caused this illness. His father carries the other. There are so many illnesses that can be cured; why can't this one? He is also on oxygen at night, has problems with sleep and is on a lung transplant list. My hope for him is to live a long happy life and be able to watch his 3 girls grow.

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Comment from: frank, 3-6 Male (Caregiver) Published: April 10

My son was diagnosed with alpha-1 antitrypsin deficiency shortly after birth when our very observant pediatrician noticed a difference between his conjugated and unconjugated bilirubin. He is not symptomatic so far, but I am vigilant about the lifestyle choices we are making for him; no one around who smokes, etc.

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Comment from: dancingrabbit, 55-64 Female (Patient) Published: December 04

I was diagnosed with exercise induced asthma at age eight and was treated with various asthma inhalers, etc., all my life. When they stopped helping, my doctor tested me for alpha-1 antitrypsin deficiency and I found out I had the ZZ genes associated with alpha-1. I have been on enzyme augmentation therapy for the past year. I am also going through cardio-pulmonary rehabilitation which has helped greatly with breathing techniques, life adjustments and improved fitness.

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Comment from: janice, 55-64 Female (Patient) Published: February 24

I was sick from birth, but finally got a diagnosis of alpha-1 antitrypsin deficiency in 2004. I always extend helping hand to those who are not sure or have questions or afraid to get in touch with me. I am on IV augmentation therapy every week. This drug can slow the process down. It is called Prolastin C. I am on oxygen 24/7 and tire very easily. There aren"t many of us, but we are all part of the alpha family now.

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Comment from: ralph, Male (Patient) Published: January 05

I was diagnosed with alpha-1 antitrypsin deficiency 7 years ago. I had liver transplant 11-2014 and am doing well, I was very sick before transplant.

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Comment from: SANDYALPHA, 45-54 Female (Patient) Published: April 25

My symptoms of alpha-1 antitrypsin deficiency came on quick. And I never knew, till now they kept saying COPD, then a doctor finally said there was something else going. After 3 day in ICU and many tests, they found it. I wish they could find this stuff earlier in life because I would have lived mine a lot different.

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Comment from: chris, 65-74 Female (Patient) Published: January 21

I was diagnosed with alpha 1 antitrypsin deficiency on May 24, 2013. I have the double Z allele. I now have COPD (chronic obstructive pulmonary disease) and cirrhosis.

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Alpha 1 Antitrypsin Deficiency - Genetic Testing Question: Have you had genetic testing for alpha-1 antitrypsin deficiency? If so, what were the results?
Alpha 1 Antitrypsin Deficiency - Effective Treatments Question: What kinds of treatment have you received for your disease caused by an alpha-1 antitrypsin deficiency?

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