best intentions.

Today is the last day of November and I had every intention in the world to make a very informative infographic for Alpha 1 Antitrypsin Deficiency due to the fact that November has been designated an awareness month for it (November seems to be a catch all month for a lot of random disease awareness.)  I think when Ki was diagnosed I was too tired and overwhelmed to even bother explaining to people what it was… I was just kind of like “well if you care, look it up.”  I mean I explained it to our immediate family and friends but as far as things like Facebook and stuff… yeah, just too exhausted.

When Alpha 1 progresses to liver disease it is kind of hard to even talk about the Alpha 1 part of it because liver disease is just shit.  One of the nastiest ruthless diseases out there.  Cuz your liver does every fucking thing.  And most of us spend our entire lives taking it completely for granted.  Alpha 1 liver disease is not any different than liver disease caused by anything else, even Alpha docs will tell you, once it’s liver disease there isn’t really anything we can do… just look out for your lungs in the meantime.

Liver disease happens when the liver gets scarred up and unable to function.  This is called cirrhosis and I hate that fucking word more than any other word in the world.  It even sounds every bit as ugly as it is.  And it’s mostly only talked about in terms of alcoholism.  But there are many many reasons for cirrhosis, it is just until you experience one of them intimately you just never really learn that much about liver disease and its causes.  In the case of Alpha 1, cirrhosis is caused because the liver makes the antitrypsin protein that your body needs to protect your lungs, however because of a genetic defect the protein is misfolded and cannot escape the liver, there it builds up causing the tissue to scar.  That is what cirrhosis is, your liver slowly turning into just a mass of scar tissue.  It really makes the liver seem like a dumb organ doesn’t it… it has an amazing ability to regenerate and yet it scars itself up as a mode of protection.  There’s also a version of Alpha 1 where the genetic defect causes the liver to make no version of the antitrypsin protein… in this case these people will never be at risk of Alpha 1 liver disease but since they don’t even have the slightest bit of protein to protect their lungs, they are pretty much guaranteed lung disease.

As far as the lung aspect goes I thank God every day we do not have to deal with that.  His lungs have done good so far and don’t show signs of damage.  Once he gets a new liver he will essentially be cured of Alpha 1 since the new one will make antitrypsin correctly.  His uncle suffers from lung disease caused by Alpha 1 and despite the prolastin infusion which is the only current pharmaceutical approved for Alpha 1 (In the US… I know some of our European alphas are not so lucky and have zero approved treatments), his disease continues to progress… it can help but unfortunately it doesn’t slow the progression of the disease for every body and can lead for the need for a double lung transplant.

So one little genetic defect causes all this.  And it’s estimated 25% of Americans are carriers. The rate can be much higher in some European countries where it is believed the disease originated from our ancestors.  It is also believed to be one of the most under-diagnosed genetic defects in medicine.  It is the number one reason for pediatric liver transplants.  Usually the liver issues show up in babies and young children, although most go on to recover function and don’t have anymore issues… but then it goes to show up again in adults, and it is believed that many alphas are liver affected at the time of death (assuming they live otherwise normal lifespans) but because our livers are so amazing, most people don’t get the point of having cirrhosis.  It’s also believed to be a major cause of liver cancer.  Gee, what doesn’t this disease do eh?

It’s a shit disease.  And I’m not even speaking on the lung affected population who struggle with COPD because of this shit, which is another awful hellacious disease.

Someday, when my husband is on the road to recovery because I know with all my heart he will beat this shit, I want to go out and talk to people about this disease, I want to spread knowledge about it, I want to help others suffering with it because no one should have to go through this alone.  It’s awful and scary and frustrating and still so misunderstood.