A metre for every euro

When he swam almost the entire Elfstedentocht, Maarten van der Weijden raised almost five million euro for cancer research. Six-year-old Tijn raised a million for brain stem cancer by painting his nails. And twelve-year-old ‘piano boy’ Bas raised more than fifty thousand euro for diabetes research by playing sixteen train station pianos in a single day.

Clinical geneticist Conny van Ravenswaaij, also known as ‘professor Conny’ isn’t jealous of them – not really. Everyone knows someone who suffers from cancer or diabetes, so of course people donate money to those causes.

But when she thinks about how much money she needs for her research into a rare chromosomal abnormality in children, it becomes harder to avoid jealousy. Her work isn’t very glamorous, and the conditions she studies are extremely rare: perhaps only a hundred children in the entire country are affected. ‘Their parents need it so much, though’, she says.

Car boot sale

She isn’t asking for much. She doesn’t need a million euro to set up a whole new study or an entire group of PhD students. All she wants is 120,000 euro to pay for a single computer scientist and a single programmer to make a single self-learning analytical system. If she had that, she could help so many people. ‘But I don’t want to get ahead of myself’, she says, almost apologetically. ‘Twelve thousand euro would be enough to get me a student assistant.’ That would alone would be a big help.

Parents do the best they can to help, raising money through charity runs, car boot sales, and bake sales. But that money won’t buy more than a few months’ worth of student assistants.

I don’t want to get ahead of myself

So Professor Conny decided to raise the rest herself. She had planned a sabbatical to take a breather. But perhaps she could use that time better. Rest would have to wait.

Last Monday, she left for the French commune of La Réole. From there, she will trek 1,200 kilometres to Santiago de Compostela. If she can raise one thousand euro for each kilometre of her trip, she’ll be able to pay for her analytical system.

Several forms

Van Ravenswaaij studies abnormalities in chromosome 6. Chromosomal abnormalities aren’t necessarily all that rare; one in every four hundred children has them.

But there are twenty-three different chromosomes made up of approximately 20,000 genes in total. An abnormality can take several forms. Chromosomes can have pieces missing, or someone could have double the chromosomes. All these genes and different combinations express themselves differently.

Almost all patients with chromosomal abnormality suffer from mental handicaps, and heart conditions are common as well. The children also often suffer from hearing and vision problems, impaired physical development, and much shorter life expectancies.

Geneticists have yet to figure out which chromosomal abnormality causes which condition. Even professor Conny – who leads an expertise clinic at the UMCG and is one of the leading authorities in the field – doesn’t know.

Trauma

She hates not knowing. ‘I have a responsibility to my patients’, she says. ‘These parents have come to me for information and advice. They’re already dealing with the trauma of their child suffering from this condition; once they’ve managed to accept that, they want to know if their child will ever grow up, ever talk. They want to know what to expect. I don’t want to traumatise them all over again by telling them I don’t know.’

Parents had flown in from Australia to talk to me

It’s her experience that parents have a great need for information and counselling. Recently, when she attended a conference in the United States, ‘parents flew in from Australia to talk to me. Other drove eight hundred kilometres!’ She felt like she fell short, time and again.

She set up a follow-up clinic for patients with chromosome 4 and 18 abnormalities, which she studied when she just started her career, and she managed to turn this clinic into the one she runs now at the UMCG. But all that, she says, is like a drop in the ocean.

Golden opportunity

‘And then, in 2016, Paulina Bouman came to my office hour.’ Bouman’s son Roeland has a chromosome 6 abnormality. ‘She told me about a Facebook group where parents of afflicted children from all over the world talk to each other. She asked me if I could study the condition.’

Around the time of Bouman’s visit, a new, extremely precise way of mapping out DNA abnormalities became available. Suddenly, Van Ravenswaaij had the means to compare this detailed DNA information with the children’s clinical development. It was a golden opportunity.

They were so eager to share

She started sending the parents questionnaires, but she quickly got much more than she bargained for; people sent her entire medical files, photographs, and descriptions of their children. ‘They were so eager to share what they had.’

Giant puzzle

She collected an overwhelming amount of information about chromosome 6 over the next several months. It was a researcher’s goldmine, unprecedented in the existing literature. She saw she had a chance to really do something.

But sorting through the mountain of data and making sense out of it will be no small feat. ‘If I could feed that information into a self-learning analytical system’, she says, ‘it would be much easier to determine which abnormalities I can compare.’

Doctors could also consult this database, says, to see if they need to do a cardiogram because their patient is at an increased risk of heart problems. And parents could consult it to answer the as-yet unanswerable questions – say, to find out if they’ll ever be able to talk to their child.

And once you’ve input the different data for one chromosome, you can do so for the remained twenty-two, as well.

Unfair

The plan is perfect; the knowledge and the data required are there. The only thing that’s missing to make it happen is the money.

Van Ravenswaaij is frustrated. There is a great bioinformatics department at the UMCG, but only researchers with big grants from financiers like ZonMW or NWO can afford to book any time with that department. The department prioritises research for cancer or cardiovascular disease, which affect thousands of people. ‘That means I’m always at the back of the line’.

It’s such a shame, and not fair

Not even the Rare Disease Fund can help. ‘When I ask them for money, they ask me if I can cure these children. And I can’t. All I can do is make sure they have people to take care of them and that their parents have help.’ She gets the focus on curative solutions, she says, but it’s still a shame, and it’s unfair. ‘Everyone just keeps forgetting about these kids’, she says.

Fervent hiker

She realised no one would give her the money she needed; she would have to raise it herself by walking to Santiago de Compostela. She’s always been a fervent hiker. She already has the shoes and her backpack is packed. She is excited, but doubts still creep in. ‘It’s such a commitment’, she says. ‘What if I hurt myself? I couldn’t just give up.’

But Conny is determined to succeed. It’s her responsibility not just as a doctor, but as a human being. ‘What better way to give life meaning?’

You can support professor Conny on Geef.nl

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