Connie Stumpel Connie Stumpel Sacha Ruland

“The social side of this work fits me like a glove”

Written by  Graziella Runchina Tuesday, 12 November 2013 09:41
“Every individual with a developmental disorder has the right to a diagnosis.” These are the words of Connie Stumpel, professor of Clinical Genetics at Maastricht University and head of the Clinical Genetics outpatient clinic at the MUMC+. She also chairs the board of the Stichting Vooruit, a foundation for children with disabilities.

Given her background as a paediatrician, it comes as no surprise that Stumpel is committed to improving the lives of disabled children. She sees it as a form of social engagement that is part and parcel of her role at the university. “Back when I was doing my paediatric training I came into contact with children who’d been diagnosed with all sorts of syndromes”, she says. “And as a newly graduated doctor in the ‘Onze Lieve Vrouwe Gasthuis’ in Amsterdam, I found that I had a particular interest in children who had something special about them.”

Fascinating content

In the 1980s Stumpel was, together with a number of other paediatricians, closely involved in getting clinical genetics off the ground as a new medical specialism. “The content of the field is incredibly fascinating. Traditionally, paediatricians were largely responsible for the field until it became a recognised medical specialism in 1987.” When Stumpel moved to Maastricht University in 1985, the field was still in its infancy. “DNA testing was barely possible. The technology in this area has boomed since the 1990s, and we’ve seen – and are continuing to see – huge leaps forward.” In 2002 Stumpel was the first female clinical geneticist in the Netherlands to be appointed professor, specialising in syndrome diagnosis and specific developmental disorders.  

Stichting Vooruit

The expertise Stumpel has gained in the last few decades as a clinical geneticist and paediatrician stands her in good stead for her work as chair of the Stichting Vooruit, which is dedicated to children with disabilities. This foundation has existed since 1959, albeit under a different name (the Stichting ter behartiging van de belangen van het gebrekkige kind). Its aim is to support scientific research, projects in developing countries, and practical projects for children with disabilities at the paediatric rehabilitation centre Adelante (on the site of the former Franciscan Order in Valkenburg).
“We encourage people to submit all kinds of project proposals, as long as the resources will be used for the benefit of our primary target group – children with disabilities”, Stumpel explains. “For instance, we funded a project for children with spastic hands at Adelante, and we also sponsored the Global Exploration Project, an international exchange project in which 10 school students from Adelante participated. In the new incarnation of the Stichting Vooruit we’re also involved in fundraising ourselves. After all, there’s no shortage of things to do, and money can only help!”

Kabuki syndrome

Stumpel is UM’s expert in the field of syndrome diagnostics. She focuses on rare disorders, such as Kabuki syndrome. “This is a congenital disease that affects around 70 children and adults in the Netherlands. Some of these children are involved with Adelante. I helped to launch the Dutch Kabuki network as its medical adviser”, she says. “Maastricht is the national expertise centre for Kabuki syndrome. The gene was only discovered in 2010, and we’ve since drawn up guidelines for parents and professionals on how to provide Kabuki kids with the best medical guidance possible. We can’t make them better, but we can advise them and their families as well as possible.”

Right to diagnosis

In Stumpel’s experience, parents struggle with the same sorts of questions when something goes wrong with their child. “The basic premise in clinical genetic diagnostics is that every individual with a developmental disorder, whether or not coupled with structural defects in organs or appearance, has the right to a diagnosis. Parents tend to have three main questions: What’s going on? How did this happen? And what is the chance it will happen again if we have another child? Parents want a diagnosis – they see that as the answer to their questions, and they want it as fast as possible. Sometimes the problem is immediately clear, and we can then provide answers. But that’s not always the case. In some situations it can take a considerable amount of time to trace a small chromosomal abnormality or a particular mutation. That was what happened with Kabuki syndrome, so only very recently were we able to identify the gene defect. Today’s genome diagnostics mean that we can find genetic causes for mental disabilities that never used to be possible.”

Societal objective

“In my view, what we do within the MUMC+ in terms of gaining knowledge, publishing academic articles and supervising PhD candidates should also have a societal objective”, says Stumpel. “Chairing the Stichting Vooruit is part of this. I see it as an opportunity to be able to do something for children with disabilities.”

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