Saskia B. Wortmann

My goal is to raise awareness of rare diseases!

Saskia B. Wortmann, MD, PhD, from the University Children’s Hospital Salzburg, Austria, feels very honoured that her work on rare diseases is recognized. Finding a treatment for patients with rare or, as they are often called, orphan diseases is not interesting for the pharma industry. From the point of view of the patients, this is very unfair because as a patient you cannot chose between having a common or a rare disease, but you suffer just the same. 

Making it to the finals makes her very happy and she hopes that this nomination or even the prize will help her increase awareness of the needs of patients with rare diseases.

In the study, she and her team focused on patients with glycogen storage disorder type 1b. These patients do not only have problems with low blood sugar that force them to eat every two hours, but also suffer very severe and often life-threatening infections, painful mouth ulcers and inflammatory bowel disease, leading to daily abdominal pain and diarrhoea because of dysfunctional white blood cells. The research team dared give these patients an anti-diabetic medicine which is normally used to lower blood sugar. This may sound foolhardy, but they knew from laboratory work that it should repair the function of the white blood cells. And it worked, the white blood cells started to function normally again and the medicine did not further lower the blood sugar. This discovery is really life-changing for these patients as it means no more infections, no more abdominal pain and diarrhoea, and no more painful mouth ulcers.

I am a paediatrician for metabolic diseases, which means that I am a specialist for rare diseases. Often even my colleagues have never heard of the diseases my patients have. At my outpatient clinic, I often see children who have seen many doctors without getting a diagnosis – a diagnostic odyssey. We conduct research to find their diagnosis which is often a previously unknown disease, and we do research to understand what exactly is wrong with their metabolism, what makes them ill. This helps us create a personalized treatment, similar to a specific diet or certain vitamin in a high concentration. This is what makes my work challenging and at the same time so very satisfying. I do not only treat the child, but the whole family. And, as a mother of a seven-year-old son, I just feel that your child is the most important person in the whole universe and that you would do everything to avoid their suffering, and that the only thing you want is a healthy and happy child.

Her clinical work is her research, and her research is her clinical work. It is her curiosity that drives her – she wants to understand the problem and she always hopes to find something that would improve the life of her patients and their families. Of course, this is not always as successful as in this study, but she never gives up. When she gets frustrated by research, her clinical work gets more attention, and when the clinical work becomes too exhausting, there comes a breakthrough in her research and her batteries are charged again immediately.

Her batteries are charged in some other ways as well, most of all through spending time with her son and travelling the world, the latter currently being next to impossible. But spending more time at home now, she also enjoys cooking and doing yoga.