Gabriele Gründl represents the patients in the internal advisory board of RESIST

We are very pleased that Gabriele Gründl has taken on the task of representing patients on the internal advisory board of RESIST. She is the national chairperson of the patient organisation Deutsche Selbsthilfe für angeborene Immundefekte (German Self-Help for Congenital Immunodeficiencies, dsai) and recipient of the Federal Cross of Merit on Ribbon.

Ms Gründl, you have been advocating for people with congenital immunodeficiencies for more than three decades. What has changed for those affected by the Corona pandemic?

Plasma donations, on which many affected people depend, have decreased – because fewer people are donating and because there have been supply difficulties, for example from the USA, where about 30 per cent of the plasma is obtained. In addition, much of the discussion revolved around the question of whether or not to get vaccinated. With more than 480 different disease patterns within the congenital immunodeficiencies, it is unfortunately not possible to give a general recommendation. In addition, many affected people isolate themselves for fear of infection, and some hardly ever go outside.

What should be researched with particular priority in relation to congenital immunodeficiencies?

In my view, research in the field of gene therapy is particularly forward-looking. However, these therapies are very cost-intensive.

You yourself founded the dsai in 1991. The reason was that your son had been diagnosed with a congenital immunodeficiency. How is he doing today?

Mario is now 33 years old and doing relatively well. When he was seven months old, he kept getting infections that manifested themselves in his bladder. He was in hospital for months and his kidneys were already not working properly. When he needed a blood transfusion after a cystoscopy, he was running a high fever and an immunologist was called in. It came out that he has no antibodies and since then he has been treated with immunoglobulins.

The dsai conducts medical training on immunodeficiencies and does a lot of public relations work. How informed are the medical profession and the public about immunodeficiencies at the moment?

The diagnosis rate has improved. But doctors in private practice are still far too little informed. They still think too rarely about congenital immunodeficiencies when it comes to frequent infections that can be briefly suppressed by antibiotics, but then come back. Yet these are the clear warning signs.

The dsai has been instrumental in getting the German Medical Association to offer “additional training in immunology”, and is currently campaigning for the introduction of the “specialist in immunology”. Another achievement is that newborns are screened for severe congenital immunodeficiencies. Is there a next big goal?

We need more treatment centres for immunodeficiencies in adults; up to now, waiting times of months have had to be accepted in some cases. There is also a lack of centres where plasma can be donated – so that there are enough immunoglobulins available for patients.

The dsai: A voice for people with rare diseases
Congenital immunodeficiencies are rare diseases; there are currently almost 500 known primary immunodeficiencies. The patient organisation dsai campaigns for early diagnosis, appropriate therapy and comprehensive care, but also for public education, training of doctors and immunological research. Particularly important to it is the exchange with those affected – there are 15 regional groups nationwide – and the advice provided by the federal office. The association has almost 1,000 members and is financed by donations and membership fees. More information is available on the homepage www.dsai.de.

The photo shows Gabriele Gründl