A disease that consumes energy

Before our appointment in the main hall of the Radboudumc, I check the camera with which I intend to immortalise Professor Jan Smeitink later for this interview. In the display a battery is flashing: battery low. How symbolic. No photo, but a headline for the article. Paediatrician Jan Smeitink provides content. Topic of conversation: a mitochondrial disease.

Professor Jan Smeitink patiently explains again what a mitochondrial disease is. "It is an energy metabolism disease that is still relatively unknown and for which there is no medicine yet. It results from a defect in DNA that causes the mitochondria, the energy factories located in the cell, to malfunction. Every week, one to two children are born with this mitochondrial disorder in the Netherlands."

Extremely tired
Smeitink outlines the impact this disease has on children's lives: "Normally, mitochondria enable the body to get the energy needed for organ functioning and muscle use from food. In these patients, this hardly happens. As a result, they have a huge energy deficit. These patients are extremely tired and suffer from muscle weakness. But there is more. The heart muscle and even the brain can also be affected. The latter can lead to mental disability and epilepsy."

Their lives are hard and short
The outlook for these little patients is not good at the moment, we learn. The life expectancy of children with energy metabolism disease is low. Only 50% of them live to 10 years. Smeitink: "With devices, we try to stretch the children's life span, but their lives are hard and too short. And a medicine is sadly lacking. So although about 100 children are born with this condition every year in the Netherlands alone, it is a 'minor disease'. That automatically means there is not much interest in it from the pharmaceutical industry. The solution will not come from that corner."

A first step towards finding a cure
From which corner, then, should the solution come, we want to know. From Smeitink himself, we understand. "I have been leading research into this disease for many years and we have made great strides with our research in recent years.

We have gained a lot of insight into the causes of this disease. Our perspective now is that we will be able to come up with the first drug on the market in a few years' time. Not a cure, because we cannot cure it yet. But we do think we can stabilise the disease with it. That means that, if it is diagnosed quickly enough, we can counteract many of the consequences. It is a first step towards finding a cure."

Energy4All Foundation
''Research is largely dependent on grants and donations,'' Smeitink says. "That's why the Energy4All foundation was set up in 2006. Since then, that foundation has not only brought enormous attention to the disease, but also generated a lot of money. Jochem van Gelder and Jochem Myjer have joined the foundation as ambassadors, and numerous companies and individuals have also entered into a relationship with Energy4All. Activities are organised throughout the country that raise money. That means, we can now spend more than half a million euros annually from the foundation on research."

Only 50 per cent of them live to be 10.

Professor Jan Smeitink is pleased with the money. "With this, we can accelerate research and thus start offering something to children who now actually have no prospects." What can we do? At least go to the site: www.energy4all.eu. That's where the long IBAN numbers are, but you can also sign up as a volunteer if you want to put energy into this.

Capital Advertising cares deeply about Energy4All. The multimedia campaign Doodmoe Geboren and the corporate identity with the koala bear Bibi were developed by the agency.

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