Personal Stories
Almost everyone, which found out that they have an Alpha 1 Antitrypsin Deficiency with genotype MZ, has quite an interesting story to tell, because most of us went through quite a long process before the root cause of our medical problems was found.
In this section you will find a number of these stories, and I am sure you will recognize yourselves in one of those stories!!
Personal story 1
Hello, my name is Ken Widner. I am the owner operator of
Classy Drywall since 1991 in Mountain Home Idaho.
I sanded hundreds of houses without wearing a mask.
I love to hunt and fish and snowboard but in 2016 at age 54
it was like someone flipped a switch and overnight I couldn't
breath. I couldn't walk the 50 yards from my door to my parking
spot because I would be so winded.
So, I went to my primary care physician and he did a pulmonary
function test and took some blood and told me to come back
next week.The next week he walked into the examining
room and in a very somber tone he said, "I'm sorry to tell you,
but you have Alpha one antitrypsin deficiency disease"
I didn't even understand what he said because he has such a
strong foreign accent. I was very fortunate that he was familiar
with Alpha 1 and he told me just from my build and symptoms
is why he tested me for it.
He prescribed oxygen for me and referred me to a
pulmanologist. When I get in to see the pulmanologist he did
another lung function test and re tested to see what my
phenotype was. He confirmed that I was an MZ alpha
and prescribed some inhailers, it's been so long,
I can't remember which ones but I know I was using Brovana in my nebulizer daily along with two other inhailers and my albuterol rescue inhailer. None of the inhailers helped much, I was short of breath all the time.
I started doing research on alpha1 looking for a cure if there was one, and I read about augmentation therapy, IV infusions. I asked my pulmanologist about them but he said that I was "just a carrier" and MZ's don't need infusions.
In 2018 I found the website for the Alpha Foundation and found a specialist that was closest to me. Dr. Perozzi was a four and a half hour drive from Idaho to Salt lake City so I went to see her. She ran some tests and got me on weekly iv infusions in Idaho starting in 2019.
Seems like MZ alphas do sometimes need infusions. Every week, like clockwork, I was going to the infusion center and getting a prolastin-c infusion. It isn't a cure but it is supposed to slow the progression of lung disease.
I try to stay enrolled in pulmonary rehab because it really helpes me to stay moving and breath better.
My pulmanologist would do a ct scan every six months to see if there is any change in my lungs. He noticed a nodule that had grown a tiny bit. He told me I have lung cancer and referred me to an oncologist who did a PET Scan and confirmed that I have lung cancer. He told me that radiation was the treatment but radiation would cause scaring and further damage to my already damaged lungs so I opted to not do it.
Then I read about zephyr valves. I asked my pulmanologist about them but he said that there was nobody in Idaho who does that procedure so I asked him to refer me to salt lake city for it.
The first thing they did in salt lake was a broncosopy to check these nodules and do biopsies on them. The one nodule that they were wanting to radiate was almost gone but there were others. They decided that it was just inflammation and proceeded to do the testing for the zephyr valves.
In November of 2022 I went to salt lake city for an appointment that I assumed was to schedule the procedure because I had been through all the testing. But when I got there I was told that my lungs were too damaged and the valves wouldn't help me and I needed a double lung transplant. So I agreed to that and started planning and prepping for that. I moved into an apartment close to the hospital September 27th 2023 and October 29th I got a call saying they had lungs for me. The surgery was done on October 31st, Halloween, 2023.
I have new lungs now that work amazing but I'm still an MZ alpha.
I will definitely not be smoking or breathing drywall dust daily with these new lungs.
My advice to any and all alpha's, whatever your phenotype is, mz, zz, ms, whatever it is, don't smoke. Don't vape. Stay out of poor air quality like drywall dust or airless paint sprayers.
You can save yourself from a lot of grief and possibly save yourself from a lung transplant like I had to have.
Personal story 2
Hello all, as of 2014-15 I got more and more tired, first off all you think, I am getting older and its part of the deal. However, every year it was getting worse, and in 2018 it was getting so bad that I needed 12 hours of sleep or more. My primary doctor did some blood test and discovered a Vit D shortage, and prescribed a high doses of Vit D3 to take on a weekly basis.
After the first doses, weird things started in my body, absolutely no sleep anymore and a burning pain in my joints like wrists etc. This went away in a couple of days, so I thought it was part of the deal. After the second doses a week later, my life stopped... A lot of pain in all my joints and my body came into a kind of hyper mode, no sleep was possible, and I was not able to keep my food in. Only very very light food like crackers were tolerated. At that time I was not able to work anymore, and even walking became an issue. Obviously I was send to medical specialists, prof's etc where almost everything was investigated. This lasted about two years, until the last prof at an academic hospital mentioned to me that they have absolutely no clue what so ever, and that I had to live with it. However, in 2020 it became so bad, that I decided to start searching myself. Because I noticed that adding more Vit B complex was helping a bit, I first starting to look into that area, and it did not took me very long to find out that I had a serious B12 deficiency, which could even be traced back more than 10 year in the blood results. This deficiency was confirmed by a B12 specialist and a treatment was started. After about 3 months I was again able to accept some work. However, the cause of the B12 deficiency was not clear at that time. I then start looking at my Vit D deficiency and found that my PTH was much to high, which means that I was using way to much Vit D, and that my calcium absorption should be the problem. After increasing my calcium intake by quite a lot, my PTH came back to normal, and with low doses of Vit D3, I was able to keep my level reasonable. (I was still not able to handle normal doses)
However, I was still only able to eat very light food, more fat food (>20g/d) caused inflammations in my joints and made me less fit. Because everything was pointing to a liver issue, I made an appointment with a well known liver expert in Germany (in his private clinic) to get a real in dept analysis of the liver. And here an Alpha 1 Antitrypsin deficiency was found. According to him no issue, as long as I don't smoke or drink alcohol. Then I started to study everything there is to know about AATD and discovered that all my current and previous issues were actually caused by it. I could not handle NSAID's, and all symptoms (like neurological issues, immune issues, lung issues and the issues in the joints now fall into place. I now also understand the issues of my father, which had to stop working when he was about 55 years old, with all kind of physical issues very similar to mine.
I have now started to offload my liver as much as I can, and I am now close to 3 years on Vit B12 injections, and there are still improvements noticeable. I turn 72 this year when I am writing this, and I am doing everything I can to support all other Alpha 1 MZ patients out there in the world.
All the best!!