Conversation with Marion Wilkens

Marion Wilkens, Chair of Alpha1 Deutschland, shares her experiences of being diagnosed with Alpha-1 antitrypsin deficiency (AATD) at 40 years old. Now a dedicated patient advocate, she discusses the long delays in diagnosing Alpha-1 antitrypsin deficiency and highlights the need for better treatments and research. 

Can you tell us a little bit about yourself?  

I am 55 years old. When I was younger, I took part in sports including gymnastics, handball, aerobics and swimming. At university, I studied to be a chemical engineer and then got a job as a product manager. 

After giving birth to my 2 children, I decided to leave my job and do more voluntary work. I am now the Chair of Alpha1 Deutschland. 

When did you first become aware of your condition?   

Since I was 20 years old, I have visited a lung specialist for annual asthma check-ups. I stopped smoking at the age of 30 after my doctor advised this would improve my lung function but I was still coughing and would get short of breath when doing daily activities. The lack of improvement in my lung function led to me being tested for alpha-1 antitrypsin deficiency (AATD) when I was 40 years old. 

Can you tell us what it is like to live with a rare disease?  

First of all, I live like everyone else. I may even enjoy life a little more consciously because of my diagnosis. 

However, my lifestyle has changed now my symptoms are becoming more noticeable. For example, instead of walking in the mountains, I prefer to walk on flat ground and running for the bus is no longer an option. 

I raise awareness of AATD as much as I can, because not everyone is aware that there are some things I cannot do, just because I do not look ‘ill.’ My family support me whenever I need it and motivate me to keep going. 

How did you get involved in patient advocacy?   

After my AATD diagnosis, my doctor told me he wasn’t aware of the condition and we both had to find out more. I found out about Alpha1 Deutschland online, who were quick to answer my questions and ease my fears about the condition. 

I became a deputy group leader after attending my first meeting with Alpha1 Deutschland and soon had the opportunity to lead a regional group. I was then asked to join the board. 

My experiences have allowed me to help others living with AATD and learn more about the condition for myself. It is good to have the opportunity to network with others affected by AATD. Networks, like the one we have in Germany, reminds me that we are not alone with the disease! 

You recently spoke at the Alpha-1 antitrypsin deficiency patient conference. What were some of the main takeaways from the conference? 

I shared my experiences at the conference and it was a dream come true. Events like these are a great platform to reach patients that might not be able to access an Alpha-1 patient organisation. 

It was inspiring to see people from 49 countries attending the event and many healthcare professionals who were keen to learn more about the disease. The ELF team organised everything perfectly, allowing many of the speakers to raise awareness of AATD and why it is important! 

Why do you think it is important to raise awareness of alpha-1 and what else do you think needs to be done?  

It takes an average of 5-8 years for AATD to be diagnosed and it is still considered a ‘rare disease’, but experts believe there are many more people living with the condition. This means that many people with AATD are not receiving suitable treatment. The more people who are diagnosed, the better their outcomes are likely to be. But we still need specific research and a cure for AATD is still a long way off.  

The only AATD-specific treatment in Europe is still only available in a few countries. This is a terrible situation that needs to change fast. Fortunately, the European Alpha-1 Research Collaboration (EARCO) are trying to understand more about the disease, but basic research is still needed. 

What would you say to someone wanting to get involved in patient advocacy?  

I do not know of any other ‘job’ that is as rewarding as raising awareness of a condition. Helping others, getting to know the disease better and networking with other patients and healthcare professionals is priceless!