From Alphas for Alphas

The strength to continue lies in the unity of the partners.

Linda Tietz: Good afternoon, dear Ms. Hambitzer. Thank you so much for taking the time today to share your life with Alpha-1 with the readers of our journal. We were fortunate enough to publish an article by you back in 2013. I was very impressed by that article. To lead an independent life at such an advanced age, with a serious lung disease, is truly remarkable. May I, for the benefit of those members who are unfamiliar with your first article, briefly revisit that time and ask you about the beginnings of your illness?

Renate Hambitzer (RH)Hello, Ms. Tietz. Yes, of course you can. Since I was a child, I suffered from diffuse breathing difficulties. My symptoms were classified as allergic asthma. For a long time, my limitations weren't that severe. I started a normal adult life. Then, around the age of 50, I began to have problems. As soon as I exerted myself more than usual, for example, while cycling or playing tennis, I suffered from shortness of breath. I caught colds very often and always felt like I couldn't breathe. In 2000, I finally received a diagnosis: Alpha-1 antitrypsin deficiency, PiZZ, diagnosed by a pulmonologist.

LT: How much has the diagnosis changed your life? After 70 years of uncertainty, it must have been a relief to finally know the cause of your decades-long symptoms.

RH: No. Quite the opposite. For me, the diagnosis was more of a shock. I began to research the disease extensively. Knowing the severity of this progressive illness was, and still is, a significant emotional burden. In addition, I initially had to make long journeys to Erlangen for my weekly Prolastin substitution therapy until my local family doctor started administering the treatment seven years ago. Until a year ago, I drove myself to the appointments. Now, a volunteer from a nearby hospice takes care of my weekly transportation.

LT: I thought it was possible to treat with Prolastin at home under difficult living conditions?

RH: As far as I know, this is only possible in some German states. In Berlin, for example. Unfortunately, it's not the case here in Bavaria. That's a real shame, because these journeys are very tiring for me and take a lot of energy.

LT: Under these difficult conditions, it is surely an advantage not to be alone and to know you have a partner by your side who provides support for what feels like an eternity, through good times and bad.

RH: You know, my husband and I share a special bond. I met him when I was 24. At the time, I was working as a physiotherapist in a rehabilitation center for war veterans in my hometown. My husband was a patient there. He had lost both hands in the war when he was just 18. From that professional support, a love blossomed that has lasted for 60 years. Helping my husband has been a part of our daily married life from the very beginning. He also suffers from breathing difficulties, due to COPD. Unfortunately, I can no longer help him as much as I could five years ago. We support each other, often silently. We are both similar individuals, but we have different ideas about emotional resilience. It's comforting to know there's someone who understands and encourages you. The drive to persevere is stronger when you have a partner by your side who needs you and for whom you stand up. I believe that's our recipe for survival. We both keep each other going, even though it gets harder every day.

LT: They both live together in their own house. Who takes care of the daily tasks that are no longer so easy for both of them to manage?

RH: The level of support we need has had to increase over the years. We've tried several things to make our daily lives easier. Currently, the German Red Cross (DRK) home care service comes twice a day. They take care of everything concerning my husband. I recently started using a housekeeper and shopping assistant twice a week. This means our days are meticulously planned. Everything takes time now. Each day has a different focus. Today, for example, it's house cleaning. Initially, it wasn't easy for me to relinquish this task. The same goes for lunch. My husband and I are used to my cooking. Our attempt to integrate "meals on wheels" into our lives failed miserably due to our established culinary habits. I try to cook for myself as long as possible. Since my appetite is diminishing more and more, I only prepare smaller, lighter meals.

LT: What experiences have you had with home care? It's certainly difficult to find the right one, and even more difficult to feel comfortable accepting help that wasn't even necessary until recently.

RH: Two years ago, we had a live-in caregiver during the summer. The young woman from Poland took very conscientious care of us. We were very satisfied, especially since a trusting relationship developed and we felt safe. After a few months, the young woman had to leave, and we tried the concept of a live-in caregiver again. However, it didn't work out at all on a personal level, so we switched to a traditional, daily home care service. The disadvantage of this is having to adjust to a new person each time. Certainly, a care facility will eventually become unavoidable. But I'm convinced that physical and emotional decline would set in very quickly in such a facility. Our house and our life together – that's a daily challenge that my husband and I have to face anew every day. It's tiring and sometimes very stressful – but it challenges us, and that's precisely what keeps us going. We fight for our independence and cherish every day we can spend where our lives have been built and where we feel at home.

LT: Dear Ms. Hambitzer, those were many interesting statements and insights you gave our readers today. Do you read our journal regularly? Do you have any requests or suggestions for us?

RH: I really enjoy reading the Alpha1 Journal. I do have some suggestions, though: In my opinion, studies have been taking up a lot of space in the reporting lately. My age group won't benefit much from the results and the resulting progress in the future. Undoubtedly, all of this is very important for the younger generation of members, but what about the older ones? We're dealing with completely different issues. These include approaching death and all the thoughts associated with it, such as religion or anxieties. How can we counteract this growing fear of death? Sometimes psychological counseling isn't enough, and medication is necessary. Personally, I feel this unavoidable fact isn't being addressed. We older folks can't really do much with pulmonary exercise either. Unfortunately, I always have to skip over these sections of the journal. Perhaps in the future, there could be a way to provide older members with articles that better address their concerns and needs.

LT: Thank you so much, Ms. Hambitzer, that was a very touching and insightful conversation with you. Keep up the good work together and give yourselves the strength to carry on!

Alpha-1 antitrypsin substitution: New treatment option available in Germany

• The protein alpha-1-antitrypsin is produced in liver cells.
• From there it enters the bloodstream.
• Although this protective protein can be found in all body tissues, it plays a particularly crucial role in the lungs.

Because the lungs are frequently exposed to pathogens, tobacco smoke, and general air pollutants through the air we breathe, the body has special substances that can destroy such pathogens. These substances are protein-splitting enzymes (proteases). However, these enzymes cannot distinguish between foreign substances and the body's own tissue. Therefore, the body needs molecular "shields" that protect its own tissue from being broken down by these protein-splitting enzymes. Alpha-1 antitrypsin acts as such a shield for lung tissue, preventing damage to this vital respiratory organ. However, individuals with alpha-1 antitrypsin deficiency lack this important protein, leading to progressive lung damage and the development of pulmonary emphysema. In extreme cases, a lung transplant is considered the last resort.

As previously described, alpha-1 antitrypsin is produced in the liver. In AAT deficiency, the problem arises that the alpha-1 polymerizes (clumps together) in the liver and can no longer be, or only partially, eliminated. Thus, what is deficient in the lungs is simultaneously excessive in the liver. This is often particularly noticeable in infants and young children, manifesting as elevated liver enzymes and enlarged organs. There is a risk of liver cirrhosis for both children and adults with alpha-1 antitrypsin deficiency, and for both affected individuals (mostly PiZZ, PiSZ) and carriers (PiMZ)! Read more here.