Alpha1 Germany eV.

Alpha1 Deutschland eV has been supporting patients with alpha-1 antitrypsin deficiency (AATD) and their families since 2001. In our current special journal, we focus specifically on the youngest affected individuals and offer a wealth of information that is both informative and entertaining.

The special journal, a supplement to the regular issues, The journal, published twice a year and free for members, covers a wide range of topics specifically relevant to parents of children and young people with AATM. From the association's pioneering work and educational resources for all age groups to current projects at the Alpha-1 Children's Center in Bonn, the journal offers valuable insights.

The journal also provides insights into the Alpha1 Children's and Youth Day 2023, which offered both informative and entertaining elements. Furthermore, new therapeutic options for itching in advanced liver disease are presented.

The special journal is available as a digital download:

Frieda Wilkens, as appeared in Alpha1 Journal 2/2023.

Hey

I'm Frieda, and I launched the Alpha1 Instagram account (@alpha1deutschland) in August. Instagram is known for being used primarily by younger generations, and that's exactly what we want to leverage – our goal is for more young people to find us as an organization and for us to raise awareness of Alpha-1 antitrypsin deficiency through social media. Please help us by following our account! I know this all too well myself. On my way to university in the mornings, it's unfortunately become almost automatic to check Instagram to see what's been happening with my friends and acquaintances in the last few hours. While I'm at it, I also take the opportunity to check out, for example, the Tagesschau account and get "meaningful" content – or, of course, Alpha1. A major advantage of Instagram is its incredibly user-friendly interface and the fact that it can be used casually, making it exactly what (hopefully) appeals to young people. I'm proud to mention that we already have at least one member who discovered the club solely through Instagram. Seeing this account grow is something I'm really looking forward to.

Posting the numerous events, newsletters, online appearances, and similar content from the club, and thus capturing them in a public "photo gallery," is a project I'm happy to implement. Because it's true: sometimes a picture is worth a thousand words.

Gabi Niethammer, Alpha1 Deutschland eV, as published in Alpha1 Journal 2/2023.

As you hold this journal in your hands, our Alpha1 Children's and Youth Day this year is either just beginning.
It has already happened, or it is just around the corner, as it will take place in Bonn from December 16th to 17th, 2023.

Since this year, we as organizers of various Alpha1 information events have noticed a change in booking behavior following the pandemic. Registrations are being made much more last-minute, and many people are reluctant to commit early. This presents a challenge because, for the same reason, hotels are requesting firm participant numbers much earlier – a balancing act we have to manage.

Approximately 35 adults and nearly 20 children and teenagers are registered for our Children and Youth Day, and we are very much looking forward to a day full of helpful information, enriching exchange, and fun—getting to know each other and seeing each other again. Since it's far too long to wait until [date/time] to publish the presentation transcripts, we will be posting them soon.
To mark the end of our summer journal, we will welcome the new year with a small special edition, giving you the opportunity to read about our experiences in Bonn at your leisure. Starting in 2025, our association will be implementing a new feature: we will be integrating the Children's and Youth Day into the Alpha1 Information Day. By allocating time in the afternoon for workshops, each participant can focus on the topics that best suit their needs, families won't have to travel twice a year, and it offers a great opportunity to engage many more members in the topic of children and young people.

But first, I am very much looking forward to organizing a great children's and youth day in my hometown of Bonn together with Marion Wilkens, before you and we hopefully enjoy a very nice, peaceful and healthy Christmas.

Alpha1 Germany eV, as published in Alpha1 Journal 2/2022.

Newborn screening also for alpha-1 antitrypsin deficiency?

Newborn screening is a routine examination performed on infants immediately after birth to detect metabolic and hormonal disorders at an early stage. The test checks for selected diseases, chosen according to criteria such as the Wilson & Junger rules. We explained these selection criteria in Journal 1/2022 (pages 31-33). In that journal, we also informed you about the ACHSE (Alliance for Chronic Rare Diseases) project and discussed the pros and cons of screening for our specific condition.

Now, a year and a half later, we haven't really made much progress; the AXIS project is still ongoing because there are so many aspects to consider regarding newborn screening: providing information before voluntary screening, support after diagnosis, feasibility of the analyses (within the given timeframe), costs, ethical questions, treatability of the disease (what exactly does that mean?), dealing with potential misdiagnoses, whether there are perhaps later, more appropriate times for testing, and much more. We have discussed and collaborated with experts and other patient organizations, conducted literature reviews, and keep coming back to the same questions, because screening in infancy should be carefully considered.

A study called "Baby Detect" is currently underway in Belgium, going far beyond conventional newborn screening. With an additional 4-8 drops of blood, it screens for more than 120 rare, but treatable, genetic diseases. Screening for alpha-1 antitrypsin deficiency is also included.

The following measures are listed as possible in the case of an early diagnosis (treatable):

• Breastfeeding the infant
• Confirming the diagnosis by determining the serum level in the blood
• Multidisciplinary care • Liver transplantation as a definitive treatment
• Substitution therapy up to and including lung transplantation
• Treatment with dapsone or doxycycline therapy for panniculitis
• Genetic counseling for family planning

Sounds good, but that only shows one side of the coin! Something else to consider:

• A child's right to "not know"„
• Social aspects such as the possible exclusion of disabled/ill people and their parents who have not been examined
• Are all variants found, or are only ZZ being searched for?
• Insurance is still a problem; once you've had a genetic test, you need good reasons to even be accepted into some insurance policies. Ignorance of the facts is a protection in this case.
• The danger of overprotectiveness by parents, even though they cannot know whether the disease will actually break out.

You're missing the word "prevention" in this discussion? Yes, prevention would be possible through early diagnosis, but isn't prevention part of healthy development anyway, for example:

• Smoking prevention: no child should ever smoke; a diagnosis of alpha-1 deficiency does not change that.
• Exercise and healthy eating – this applies to every child!
• At the first signs of illness, you should see a doctor: We repeat, this applies to every child!

It is difficult to form an opinion; as someone who is ill, one tends to say: "Knowledge helps," but this does not apply equally to all people.

We will continue to pursue this issue; many different models for the future are conceivable. Newborn screening is just one possibility; research is progressing, and the examination of our genome (the entirety of a cell's genetic information) will change many things. As always, it is important to get involved early and exert influence wherever we can.

Summary: Gabi Niethammer, as published in Alpha1 Journal 1/2023.

Reenactment of a consultation after the initial diagnosis based on the questions that most frequently concern families: How does the disease develop, how does it "work"?

In very simple terms, the body contains proteins (proteases) that are needed during inflammatory responses to break down tissue. Inflammatory cells enter tissue, defend against pathogens, isolate viruses, and attack harmful substances. However, a mechanism is also needed to stop proteases. This is where antagonists (inhibitors) like alpha-1-antitrypsin come in. These bind to the proteases and thus halt the breakdown process. If alpha-1 is deficient, the proteases "eat their way through" the tissue and don't even stop at healthy lung tissue. Alpha-1-antitrypsin deficiency is caused by a simple mutation of a single amino acid.

The term AAT deficiency is somewhat misleading, since alpha-1 is produced in the liver in most people, but it folds incorrectly there and therefore cannot leave the liver. With Z-molecules, the alpha-1 that remains in the liver clumps together and forms chains (polymerization). So there is too much alpha-1 in the liver, and since it cannot be eliminated, too little reaches the lungs via the bloodstream, resulting in a deficiency.

Where does the alpha-1 antitrypsin deficiency come from and what was its purpose?

It is assumed that the deficiency variants originated approximately 2,500 years ago, with PI*Z being attributed to Scandinavia and PI*S to Spain. Furthermore, it is believed that under the living conditions of that time, with their high prevalence of infections, having at least one alpha-1 deficiency gene, i.e., being heterozygous affected, offered a certain survival advantage. This would explain the spread over a relatively short period in historical terms.

Why is my child affected? Is the diagnosis certain?

The information for alpha-1 antitrypsin is located on chromosome 14. Basically, every person has two copies of the gene, one of which they pass on to their child. Two mutated genes in the body mean being homozygous affected; the most common variant here is PI*ZZ. If only one gene is affected, this is called heterozygous affected (PI*MZ), and the person is a carrier of the deficient gene.

In a family with a homozygous affected child, both parents must carry at least one mutated gene, meaning they themselves are at least heterozygous affected. Statistically, the risk for further children is simple: 25 % (healthy) to 50 % (heterozygous) to 25 % (homozygous). However, biology doesn't follow this pattern, and the outcome is determined anew in each individual case.

In an exemplary family constellation with a homozygous affected father and a homozygous healthy mother, all children can only be heterozygous, meaning they carry the defective variant. The situation is different if the mother is not healthy but is herself a carrier; then the children can be either heterozygous or homozygous affected. If she herself is PI*ZZ, the children can only be homozygous affected, since only one Z gene can be passed on from each parent.

What are the symptoms of the illness?

This serious condition primarily affects the liver and affects very young children. In early infancy, AATD can manifest as prolonged jaundice, pale stools, liver enlargement, failure to thrive, elevated liver enzymes, and, in rare but dangerous cases, vitamin K deficiency bleeding. In toddlerhood, liver and spleen enlargement may develop, accompanied by abdominal swelling and itching.

Elevated liver enzyme levels are often an incidental finding because routine laboratory tests are performed on younger children during a completely different examination or, for example, an ENT procedure, and the elevated liver enzyme levels are then noticed in previously completely healthy children.

Later in school, children who have remained healthy until then very, very rarely become ill. However, it can occur occasionally and then manifests itself, for example, through itching, general weakness, and growth retardation, or again through abnormal liver function tests. In extremely rare cases, dramatic symptoms such as vomiting blood, bloody stools, or shortness of breath with cyanosis upon exertion occur. This hepatopulmonary syndrome is not the lung disease in adult Alpha syndrome, but rather lung problems resulting from liver cirrhosis.

Alpha1 Germany eV and Hannover Medical School (MHH), Tx Management / Transplant Center, deinegeschichte@mh-hannover.de, as published in Alpha1 Journal 2/2022.

Childhood liver transplantation – presentation of the book „Encouraging Stories of Transplant Recipients“

„I am delighted that 30 touching stories of encouragement emerged from this participatory campaign and have now been compiled into a truly beautiful book, which is being presented today,“ said Elke Büdenbender, patron of the campaign, judge at the Berlin Administrative Court, and wife of Federal President Frank-Walter Steinmeier, in a video message on September 3, 2022, at the patient day „Managing Everyday Life After Transplantation,“ held as part of the two-day symposium „Organ Transplantation in Childhood and Adolescence.“ „The importance of such stories cannot be overstated, especially for those affected and their families. Courage, hope, and confidence are crucial for successfully undergoing such an operation and for recovery afterward.“ Since 1970, approximately 2,000 children and adolescents have received a donor organ (kidney, liver, heart, lung) at Hannover Medical School (MHH). To mark the 50th anniversary of transplantation in children and adolescents at Hannover Medical School (MHH), the Transplant Center launched the participatory campaign "Give Courage: Tell Your Story!" in 2021. The submitted stories have now been published in the book "Inspiring Stories from Transplant Recipients." The book was presented at the Patient Day event, and the participants in the campaign were recognized.

The patient day offered transplant recipients and their families a comprehensive overview of topics such as rehabilitation medicine, psychosocial support, and the transition to adulthood with a transplanted organ, as well as the associated challenges. Living with a new organ as a child or adolescent presents unique challenges for the child, parents, and attending physicians. Discussions and presentations included the experiences of those affected, services offered by support groups and rehabilitation facilities, and tips on exercise and nutrition.

Gabi Niethammer, 2nd Chairwoman Alpha1 Germany eV.

At the end of January 2021, we participated in a virtual meeting of the Alpha-1 Children's Centers and discussed with the doctors what we could do together for young people with AATM. This led to the idea of designing a flyer for teenagers together with the team of Prof. Rainer Ganschow from the University Hospital Bonn, as such a flyer had been lacking for a long time.

No sooner said than done: the Bonn team, especially here
Joelle Lemke and I really put our hearts into it and designed a thoroughly informative and appealing flyer. Together we refined it and had suitable illustrations created for the cover.

Then the project was put on hold for a while because we had many other things and tasks to manage in order to keep the association running smoothly during the pandemic. Events were planned and then cancelled, we continued to be involved in important political issues, and the coronavirus kept us constantly occupied – in short: the flyer slipped out of our focus.

This was unacceptable! So, in the autumn, we tackled the issue again intensively and completed it after further consultation with the children's centers.

We are pleased to announce that the youth flyer is now available for download and will soon also be available in print.

We would like to sincerely thank Ms. Lemke, the team at the University Hospital Bonn, and Prof. Ganschow for their excellent work on this flyer. It's wonderful that we consistently receive such outstanding support from professionals, resulting in continuous added value for you. We hope you enjoy reading it and feel free to share this flyer with anyone affected.

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youth

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