Interviewer: Good day Mrs. Schiebl, hello Prof. Neubauer. Mrs. Schiebl, you are the chairman of the MCT8 Research Foundation. Professor Neubauer, you are pediatric neurologist and member of the advisory board of the fountation. Could you briefly explain what is behind the term MCT8?

Prof. Neubauer: It is a rare, genetic disease that manifests in childhood. MCT8 is a transporter protein that is defective in these children. This leads to the fact that they cannot transport the vital thyroid hormone, which is actually produced correctly in their bodies, into the cells of their nervous system. And since all the cells of our body rely on this hormone without our noticing it, the nerve cells of these children cannot develop properly. And they suffer from it, their neurological development suffers, and that's what makes them sick.

Interviewer: Would you briefly explain what it means for the lives of the children?

Prof. Neubauer: The children are still quite normal at the beginning, but show relatively soon after birth that their muscles cannot be properly controlled. Their muscles are weak, they do not have proper control of their bodies, and their motor development, which usually involves increasingly gaining control of the head, the ability to roll from abdomen to back, etc., does not develop because the nervous system cannot mature properly due to this hormone deficiency, instead it stays at the stage of a newborn and a young child and does not progress.

Interviewer: Even if, from today's point of view, there is still no chance of recovery and you will certainly be very careful with forecasts, where do you see approaches in the field of research?

Prof. Neubauer: In fact, there are already some ways to get around this transporter defect by using other thyroid hormones that can be delivered as a drug that the body does not make itself, and then brought into the cell by other transport systems. Unfortunately, they do not work as well as the organically produced hormone and unfortunately they do not diagnose the disease at childbirth, so a few months pass before the disease is diagnosed and these preparations can be used. These are the two main problems. We need effective drugs that are even better able to get into the cell, and patients need to be identified sooner.

Interviewer: Mrs. Schiebl, what is the aim of the foundation?

Dominika Schiebl: First of all, it's about giving these children treatment options that make their daily lives easier. In addition, our association wants to help actively in the research of this rare disease to find a cure.

Research has already achieved initial success and scientists are making good progress. But it is progressing very slowly. There is currently no standardized therapy option for patients with AHDS.

And, it is difficult to get support from the pharmaceutical industry because the syndrome is so rare.

Interviewer: With the two award-winning scientists, Prof. Schweizer and Dr. Braun, who research in the field of MCT8, you have the best advisors at your side. Are these good conditions to lead to success on a direct way?

Dominika Schiebl: We are happy to have such high carat advisors with us. Prof. Neubauer is one of the leading children’s neurologists in Germany and has been dealing with the disease for 5 years. This, of course, gives us confidence and confidence that we will not fail the trust placed in us and find a way to help the children.

Interviewer: Where do you get support and help?

We have wonderful experiences with the use of researchers and physicians. Unfortunately, we do not get help from the pharmaceutical industry because, as I said, for economic reasons, it is not in their interest to invest in research in a rare disease. So we depend on private involvement and donations to help the children.

Interviewer: Mrs. Schiebl, one last word?

Dominika Schiebl: We are grateful for the development so far and confident that we will make our contribution in the future. And of course we do not give up hope for little miracles.

Interviewer: Mrs. Schiebl, Professor Neubauer, thank you very much for the interview. We wish you a lot of success.