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FoBoT
06-14-2004, 02:03 PM
(AAT Deficiency or Alpha-1)

my dad has been having trouble with his lungs/mild exertion and his voice is rather raspy/labored, after seeing several doctors, they found out he has a genetic problem

to have the severe form of this, as my father does, both your parents have to have the recessive gene. my mother is going to get tested soon. it is unlikely she is also a carrier of the gene, but if she is, i'll have to get tested also, as i would then be likely to have this problem at some point. (further reading suggests it can cause problems as early as 40's, so i am not too far from that)

What is Alpha-1? (http://www.alphaone.org/alpha1/what_is_alpha1.html)

my grandfather died of what they thought was emphysema at the time (late 1970's) , he died fairly young, in his early sixties. he worked in construction (highways) and smoked when he was younger, so at the time they figured his lung failure was due to those environmental factors. they didn't know about this genetic problem back then , but in retrospect, it is likely what killed him.

my mom said there is a treatment, intravenous protein augmentation therapy, i think this is similar to a blood transfusion, my dad will have to have a weekly treatement that takes 1-2 hours, but they can do it at home.
his insurance has approved him for 52 weeks of this treatment. i don't know how it helps, whether it will stop the progress of his lung degeneration or if it might improve his lungs/regenerate the loss of function. i need to do some more reading on the web site (linked above)

my dad is a bit of a "health food nut" , so i always figured he would live into his 80's or 90's (his mother is 92)

:(


Lung disease is the most frequent cause of disability and early death among affected persons – striking in the prime of life -- and a major reason for lung transplants.



i need to find out if any of the DC projects (probably protein folding ?) have any relation to this disorder

Helix_Von_Smelix
06-14-2004, 03:13 PM
Let us know how you get on.

:shocked:

Moogie
06-14-2004, 03:21 PM
Ditto to what Helix said. It's always scary when our parents go through things like this. I'll definitely keep him, and your family in my thoughts.

:(

FoBoT
06-14-2004, 03:37 PM
i found a decent explaination of the genetic inheritance


How is the disorder inherited?
Everyone receives one gene for alpha-1 antitrypsin from each parent. The M gene is the most common type of gene, and it is normal. The person who inherits an M gene from each parent has normal levels of alpha-1 antitrypsin.
The Z gene is the most common defect that causes the disorder. If a person inherits one M gene and one Z gene, that person is a carrier of the disorder. While such a person may not have normal levels of alpha-1 antitrypsin, there should be enough to protect the lungs.

The person who inherits the Z gene from each parent is called "type ZZ." This person has very low alpha-1 antitrypsin levels, allowing elastase to damage the lungs.

In rare cases, a person's body may not produce any alpha-1 antitrypsin. This condition is also inherited, and it is called "null-null type."

Another type is called "dysfunctional." In this case, the alpha-1 antitrypsin levels are normal but it does not work the way it should. This type of the disorder is very uncommon.


http://www.nhlbi.nih.gov/health/public/lung/other/gene.gif

i am definetly going to have to be tested regardless of my mother's results
link (http://www.nhlbi.nih.gov/health/public/lung/other/antitryp.htm)

Anteraan
06-14-2004, 05:49 PM
I wish all the best for you and your family, FoBoT. It's great that you are educating yourself on the issue, however. It worked for Lance Armstrong, after all. :moto: As for DC projects that work in your specific area -- I simply don't know there, but I'm guessing the protein folding family would be the most applicable.