Sunday, September 2, 2012

To Don's and Naida's descendants - Getting the Word Out

Since I am PiZZ for alpha-1 antitrypsin deficiency I will definitely pass the bad gene (Z) onto each one of my children. This means they have a higher risk of having problems that relate to alpha-1 antitrypsin deficiency. 

Because I have two bad genes that means that my mom has at least one Z gene, and my dad had at least one Z gene. So, each one of my brothers and sisters has a 25% chance of having ZZ, which is the worst. But even having only one Z and one normal gene can cause problems.

This is called a punnett square. Genetics 101. Let's say that Don has an M (normal) gene and a Z gene, and Naida has an M (normal) gene and a Z gene. These are the possibilities of the genes their kids would inherit. I am kid 4 in this square.



Naida
M
Naida
Z
Don
M
Kid 1
MM
Kid 2
MZ
Don
Z
Kid 3
MZ
Kid 4
ZZ















Reality is that every single one of us 8 kids could be Kid 4. Probability is not so much.

Why is this so important to me to explain to you? This inherited condition can cause or help cause disease. The more they research it, the more the research shows that alpha-1 antitrypsin deficiency may be present in (and at least partially the cause of) several diseases. These include emphysema, fibromyalgia, systemic vasculitis, panniculitis, and bronchial asthma. 

With this being an inherited deficiency I just wanted to help you understand that it could affect you, your kids, your grandkids, and on and on. 

There is a simple blood test to find out if you are alpha-1 antitrypsin deficient. If you are interested just leave me a message (my blood relatives, including cousins) on facebook. I can help you get hooked up. If you get tested without insurance, it could be considered a pre-existing condition, so just know that.

So, now that they found out I have this they are doing something about it. They are giving me infusions of plasma with the alpha-1 antitrypsin protein in it. This is supposed to stop or slow the progression of my disease - emphysema. We just started the protocol last week, so we'll know better in about a month I think.

1 comment:

  1. Dee,

    I get it, it makes perfect sense. The little chart really helps putting the words in picture form. Thanks - Bill

    ReplyDelete