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Alpha1 Germany eV.
Today, February 28, 2023, is the 16th. Rare Disease Day, International Rare Disease Day is celebrated annually on the last day of February, precisely because the last day of the month, February 29th, is also a rare day. The aim of this day is to raise awareness of rare diseases within the community. Many exciting events will take place this year. Alpha1 Germany also wants to use this newsletter to draw attention to Alpha-1 antitrypsin deficiency (Alpha-1) as one of these rare diseases.
The theme for World Rare Disease Day this year is "sharing your colours," aiming to highlight the diverse range of rare diseases worldwide. Alpha-1 is one of over 7,000 rare diseases. On the specially created homepage of ACHSE (Alliance for Chronic Rare Diseases) You can find more information, especially about the planned activities: true to the motto: the main thing is color.
But what exactly is a rare disease, and what does that mean for us Alpha-1 patients?
Rare diseases are disorders that affect only a relatively small number of people. In Europe, a disease is considered rare if it affects no more than one in 2,000 people. These are often genetic disorders, such as Alpha-1 (80%). Most rare diseases are incurable and show initial symptoms in childhood. The lives of those affected by a rare disease are impacted (physically and/or mentally) and often reduce life expectancy. It is also not uncommon for multiple organs to be affected simultaneously, which complicates diagnosis. For example, in Alpha-1, the lungs and/or liver may be involved. Many patients face a long road to the correct diagnosis and an even longer one to the correct treatment, something many of us know from personal experience. Centers specializing in the disease are often located far from home – and this is just one of the challenges faced by patients with a rare disease.
What can we do?
Let's raise our voices together, be seen and heard. Talk about alpha-1 antitrypsin deficiency, share what's on your mind. Raise awareness about the condition, point out that alpha-1 deficiency can be a contributing factor to COPD (or other lung diseases).
Our advisory board member Prof. Pavel Strnad does the same by informing his colleagues at the EASL Congress (the international liver congress) about the correct management of alpha-1 antitrypsin deficiency in relation to the liver.
HAEMA is also a strong advocate for rare diseases. and explains some of the rare diseases that are treated with plasma. HAEMA is using this day to call for more plasma donations, especially on social media – a great initiative!
Good news
Prolastin® has been known for more than 30 years as a proven treatment option for alpha-1 antitrypsin deficiency. Until now, it was only available to patients with certain AATD genotypes and moderate FEV1 reduction in lung function. This is now changing: The Paul Ehrlich Institute (PEI) has approved an updated marketing authorization.
Please refer to the product information for further details..
A call for participation in an observational study/patient survey by CSL Behring:
Are you conducting home self-therapy with alpha-1 antitrypsin? Are you currently self-administering CSL Behring's Alpha-1 Antitrypsin, or are you about to start home/self-treatment? If so, you are warmly invited to participate in this patient survey as part of an observational study!
The scientific director of the study in Germany is Prof. Rembert Koczulla (Schön Clinic in Schönau).
The aim of this survey is to gather further insights into the use of CSL Behring's Alpha-1 Antitrypsin in home/self-treatment directly from you as a user. How well are you managing with the therapy? What impact does home/self-treatment have on your daily life and quality of life? Which aspects are less important to you, and which are particularly important?
If you are interested in participating in this observational study, please contact Alpha1 Germany, who will be happy to send you a study flyer. This flyer contains further information about the study as well as an individual QR code that you can use to register for the survey.
E-mail: info@alpha1-deutschland.org
Our everyday tip this time: The Experiential Breath according to Prof. Ilse Middendorf
It's a recommendation from a member who reported how beneficial it was for her. Breathing exercises and "listening to your body" are harmless for both those with lung conditions and healthy individuals; paying close attention to your lungs is even more beneficial. Why not give it a try?
More about You can find Prof. Ilse Middendorf here..
