Pediatric surgeon René Wijnen works at Erasmus MC Sophia Children’s Hospital, where he treats rare diseases. His department is part of a European network of hospitals that improves individual patient care. "When a doctor in Romania has a patient they need advice on, doctors from all over Europe chime in."
TEXT: Sjoerd Wielenga
PHOTOGRAPHY: Chris Bonis
René Wijnen knows what it’s like to have a sick child at home: his stepson was born with esophageal atresia. "It’s taught me a lot. Especially about how big of an impact it makes on the life of the child, the parents, the family at large. They’re very dependent on all sorts of instances, which all come with the necessary red tape. It’s tricky."
Wijnen is a pediatric surgeon and head of pediatric surgery at Erasmus MC Sophia, the largest children’s hospital in the Netherlands. His department focuses on a specific intersection of research and application: looking for the causes of, providing treatment for, and ensuring long-term results for children born with an anatomical defect. Genetic and birth defects are also included in focus-points of the Rotterdam- based children’s hospital.
When is a disease a rare one?
"Rare diseases are those that are found in one of every two-thousand people. Our department focuses on birth defects, like for example a baby born with misaligned esophagus or midriff, or with intestines that have extended outside of the belly. In cases like that the baby needs to be operated on quickly after the birth. All rare pediatric defects that need to be operated on can find treatment at Erasmus MC. Other academic hospitals often specialise in only a handful of diseases. Our patients come from all over: not just Zuid-Holland, but also Zeeland and Brabant, and for some defects it’s the entirety of the Netherlands. Our region, southwest of the Netherlands, sees a lot of families that are larger due to religious reasons. A quarter of the Netherlands ends up at Erasmus MC Sophia, and so we want to have all the expertise possible."
"All rare pediatric defects that need to be operated on can find treatment at Erasmus MC"
Does that mean that it’s mostly generalists who work at Rotterdam?
"No, we have a lot of collected knowledge. Our department has seven pediatric surgeons who are hyper-specialised: they know everything about the thorax, or about the pelvis. We do have four specialisation areas: pediactric-thorax centre (lung, airways, heart); the rare-disease centre; pediatric- brain centre (including children’s psychology); and the centre for prenatal and neonatal medicine. Oftentimes we have a good idea what kind of defect we're dealing with before the birth itself, and what that means for the subsequent process. Following the birth we can act quite quickly."
Europe has between 5.000 and 8.000 rare diseases that influence the daily lives of about 30 million people. Wijnen is excited about the collaboration happening within the European Reference Networks (ERNs), networks with rare diseases as its main focus. As of 2017, 24 of such – government recognised – networks had been set up. 900 departments from over 300 hospitals, spread out over 26 countries, collaborating within the European Reference Network to provide better treatment for rare diseases. Medical specialists of the Erasmus MC coordinate two of the 24 networks, and are actively participating in 18 of them.
René Wijnen coordinates a network for genetic conditions in pertaining to the intestines and lungs. Erasmus MC Sophia Children’s hospital has received a €200,000 grant in order to expand on the network. Wijnen: "My network has about twenty hubs all over Europe. It’s easier to make research proposals to the European Commission when they bound together. By pooling our strengths like that, we can apply for grants and conduct research into rare diseases collaboratively."
"We can join forces now, apply for grants together for research into rare diseases"
Do you also collaborate in more practical terms, for example when it’s about a singe patient?
"The European Commission has had an ICT system built which allows for second opinions. When a doctor in Romania has a patient they need advice on, what they can do is put the information into the system. All the members who are linked up to it can then chime in in finding a solution. It can also mean that a patient from Romania will need to come to Rotterdam to get treatment."
Is research being done into all rare diseases?
"No, not all thousands of rare diseases are being researched – not all of them are covered by the networks, too. In my own network, we currently have a list of about 25 diseases that I want to look into and for which I’m applying for grants. The caveat is that the specialists in my network will need to already have the knowledge of the diseases. The number of conditions that will be covered by our network will expand over the coming years. Like for example the network for metabolic disorders, which currently covers several hundreds of rare metabolic disorders."
In order to gain publicity, Wijnen and his colleagues did something remarkable last year: they spent a day connected to a feeding tube. "We wanted to experience what we put children with intestinal failure through," he said to RTV Rijnmond. "Usually they need to go through enteral feeding for long stretches of time. This way we got to experience what they go through on a daily basis, (...) For them, this is part of reality. We only had to sit through it for 24 hours. Just applying the tube is a very uncomfortable feeling." In this way, Wijnen wanted to bring attention to Sophia Children’s Hospital and specifically for children with intestinal failure. The 'tube feeding challenge' was part of Sports for Sophia, an event that raised money for research into these diseases.
What motivates you in doing this work?
"Pediatric surgery used to be a small niche with very little funding. When they were putting together the European networks, I thought to myself: this is our chance! I put in a lot of extra hours into ensuring that our Erasmus MC could participate. The implementation of guidelines and registration will be in benefit of the children. My colleagues are often in the clinic, whereas I take up a lot of management roles as head of the department. This division of management and clinical tasks makes for a good balance, because I do need that connection to the clinic. At the end of the day, taking care of our patients – and especially the surgeries themselves – is the best thing there is."