Author
Alpha1 Germany eV, as published in Alpha1 Journal 1/2023.
Leo E. Knöll
Hooray, I've made it through the first few weeks of my replacement therapy to correct my alpha-1 antitrypsin deficiency. A little background: I have progressive, apically accentuated pulmonary emphysema with accompanying bronchiectasis. The diagnosis of alpha-1 antitrypsin deficiency was made back in 1994 (PiZZ). My alpha-1 level is significantly reduced at < 30 mg/dl.
I am 72 years old, weigh 84 kg, and am 1.94 m tall. I enjoyed smoking until my mid-30s. In 2015, my pulmonologist first mentioned substitution therapy for severe alpha-1 antitrypsin deficiency. Either I didn't understand what this meant, or I hadn't listened properly. In any case, due to a lack of available appointments—at the time, I had time-consuming volunteer work and numerous hobbies—I didn't have the time. What nonsense! "Those who think they have no time for their health will sooner or later have to make time for illness." (Chinese proverb)
Only when my shortness of breath increased over time and was not improved by increased recreational sports such as brisk walking or cycling, did I seriously consider the topic of substitution in 2022; well supported by my family doctor and my trusted pulmonologist.
Despite the symptoms, my lung function test showed a normal FEV1 of 103 %. However, diffusion capacity measurements over the years revealed a progressive diffusion impairment, now severe, with a severely reduced transfer factor.
I presented myself at the Alpha1 Center of the Aachen University Hospital with a question about off-label therapy (since my FEV1 was within the normal range). I had previously been a patient there as an Alpha1 patient in Prof. Strnad's study center with suspected liver cirrhosis. Fortunately, this suspicion was not confirmed. Based on the findings I brought with me, which had already been extensively collected beforehand (CT scan of the chest, lung function tests with time courses), I received a consultation from Dr. Smith in the pulmonology clinic.
After reviewing and evaluating the findings, the team at Aachen University Hospital confirmed the indication for replacement therapy. Even though my FEV1 was still within the normal range, imaging and pulmonary function tests revealed progressive emphysema despite complete nicotine abstinence since diagnosis. Therefore, no off-label application was necessary; instead, therapy could be initiated based on the clinical, imaging, and pulmonary function findings indicating progressive emphysema.
„"Those who believe they have no time for their health will sooner or later have to make time for being sick."“
Since November 2022, I've been receiving weekly levothyroxine injections at my family doctor's office. This will be a lifelong commitment, but it's better than a gradual decline in my lung capacity. It won't get better, but hopefully, it will only deteriorate slowly. For those wondering about my good FEV1 value: I've played woodwind instruments for almost 60 years, and for the last few years, only the saxophone, as the clarinet generates too much pressure. Some doctors see a connection between the two.
So, some form of lung training seems to be helpful in compensating for the limitations of pulmonary emphysema. Not everyone can or wants to play a wind instrument, but there are ways to strengthen the lungs in every form.
Why am I writing all this down? I want to encourage everyone who, for whatever reason, is prevented from taking action against AAT deficiency. It's worth fighting for and raising awareness of the unfortunately little-known effects of AAT deficiency. Unfortunately, it often requires a lot of patience.
Christine Stukan and Luise Behrens
Home infusion makes us independent of time and place. We save ourselves, the doctors, and their staff a great deal of time and resources. The fixed, weekly doctor's appointments are no longer necessary—a total of 600 or 700 appointments since our diagnosis. When we go on vacation, we simply take our medication and supplies with us.
I was diagnosed with homozygous alpha-1 antitrypsin deficiency in 2009, and my sister in 2011. From the beginning, we both received weekly Prolastin replacement therapy at a pulmonologist's office—I in Munich and my sister in Weinheim. In 2017, on the recommendation of my pulmonologist, I was switched to Respreeza. It's much easier to use, as there's usually only one bottle containing the appropriate unit to administer. There's also the option of self-administration at home. But self-administering the injection? That was out of the question for me.
In the spring of 2022, I moved from Munich to Weinheim to live with my sister. It took a long search before I found a doctor willing to administer my weekly infusion. Infusion therapy presents significant challenges for doctors' offices. It ties up a staff member and a room in the practice for about 1.5 hours each week. More and more doctors are no longer offering this service. This led to the idea of administering the medication to each other at home.
We received the necessary information through Alpha1 Germany e.V., the Thorax Clinic, and CLS Behring. Our doctors also assured us that we could return to their practice at any time should things not work out at home. So we did just that, presenting our case at the Alpha-1 outpatient clinic of the Thorax Clinic, and then things got started. All we had to do was get the referral from the pulmonologist and schedule the appointments. Three training sessions at the clinic were planned, during which my sister was also switched to Respreeza.
At the first appointment, the doctor explained all the necessary steps and actions to us in great detail:
- What accessories and utensils are needed?
- Preparation of the work area, including sterility and disinfection
- Dissolve the medication, attach the infusion set, and allow the medication to pass through until the system is vented.
- Prepare the patient by applying a tourniquet, locate the puncture site and disinfect it.
- Of course, wash your hands thoroughly and disinfect them sufficiently.
- Puncture using the butterfly system; check blood return and then connect the system to the prepared infusion set.
- If everything has been done correctly, it should start flowing after opening the IV set.
- Once the medication has finished running through, switch to saline solution to infuse the remaining Respreeza from the infusion set.
- Finally, remove the needle, apply a pressure bandage to the area, and advise on vein care.
In the two subsequent appointments, we were guided by a nurse (medical assistant). Under her supervision, we increasingly performed the necessary steps independently. We were a little nervous, to be sure. Fortunately, everything went well, and we successfully performed our first puncture. This gave us a significant boost in self-confidence and security.
Now we continued at home. The nurse stayed with us for as long as we felt was important and necessary. She had practical and simple solutions for the routines at home. All our questions and uncertainties were discussed and resolved. Of course, things didn't always go smoothly: once we accidentally stuck the needle, which we were really afraid of; another time the IV solution wouldn't flow into the vein in my arm. The nurse had valuable tips and tricks for this. At our request, my sister's husband was also trained. The nurse recommended that we try inserting the needle ourselves. This took a lot of courage, but to our delight, it ultimately went without a hitch.
The medication will be ordered by our pulmonologist as usual and picked up by us. Most of the necessary supplies will be prescribed and therefore covered by statutory health insurance.
The optimistic and very friendly manner, the qualified and competent training and guidance, as well as the comprehensive support of the doctor and the nurse, made all of this possible and gave us the confidence that we would succeed. And in the end, we all had a lot of fun along the way.
