I remember when people used to speculate why I was so tired. It just didn’t seem right that chronic fatigue, depression, and even laziness were to blame. The profound fatigue I experienced as a result of alpha-1 antitrypsin deficiency (AATD) caused a lot of confusion and frustration for me for a long time.
One of the reasons fatigue presents such an enigmatic problem for doctors is that most chronic illnesses carry with them some degree of fatigue. I have an extreme amount of fatigue and I think any time a person presents with breathing and tiredness issues, AATD needs to be considered.
Since I got my most recent lung function test results, I feel better. Now that I know why I struggle more than most people I know to exercise, breathe, and even do the dishes at times, I can rest knowing I am getting the right treatment.
My therapy consists of getting weekly doses of alpha-1 antitrypsin (AAT). After the once-a-week treatment, I have a little more energy after a day or so. When a week goes by and it is time for another dose of therapy, I can tell I need it.
Read more about AATD experimental therapies
I recently discovered that there are different types of “Alpha’s” (those with AATD). I have a gene type that creates a certain level of AAT that circulates in my bloodstream and lungs. I do not have enough and that is what creates problems.
I have the phenotype PiSZ, which means I have a moderate risk of lung disease, mostly depending on how much AAT I have circulating. My levels are often on the lower side of the AAT range than the PiSZ phenotype controls, meaning I lack some of the protection I need from the body’s own immune system.
This may help explain why I have struggled so much when essential oils are diffused and when I used bleach to clean. It really helps me feel better to know that I am not simply making a big deal over nothing. Not being able to breathe well is no small thing, especially for the person experiencing it.
It’s a big deal even when oxygen levels are fine because there is so much energy being diverted to get oxygen to the lungs. The long-term effects of uncontrolled asthma can be devastating to someone’s lungs. I discovered this and that is even more important for a patient with alpha-1. The thought of having breathing trouble gives me a degree of anxiety to this day.
The reason I say this is that augmentation therapy can save a life. I had no idea what was going on until I complained and got test results back that showed a rather sharp decline in my lung function for no other reason except AATD.
The only way to prevent or slow decline, in this case, is to supplement with augmentation therapy that provides the patient with more AAT so that their lungs can handle any respiratory issues that might be going on in a more efficient way.
In the best-case scenario, a healthy person has no problems breathing. I have asthma (and perhaps more than that), so my whole body struggles to get that 95%-100% oxygen saturation level that is ideal. It may happen but it will take a lot of energy.
My doctor says my numbers look similar to someone with emphysema but he isn’t convinced I have that yet, as my computed tomography scan didn’t show anything more than just plain damage. So since I don’t know if I have emphysema or not, augmentation therapy has been a godsend.
I can think of a lot of things that could have been worse than this. If I was diagnosed with COPD at 34, I would be very sad. It is not common for a person who hasn’t smoked to get COPD, but it does happen. If it happens to me, I am ready and willing to suggest AATD as a possible cause.
I can hold down 2 jobs at the moment, juggling that with some other health issues, and I can enjoy time with friends and family over the holidays. I have come to appreciate the frailty and beauty of life even in hard times.
Right now I am in a great place. I know what is going on and I am receiving treatment and thankfully do not need oxygen yet. My hope is that I never do.
There are other forms of therapy being developed as I write this that I hope to make treatment for AATD easier for everyone involved. I anticipate the day that I don’t have to get my intravenous pole out and mentally prepare myself for that needle and I know many others with AATD do too!