The woman and science behind an incurable disease

An interview with a patient and the researchers studying her disease

This blog post is part of VIB Neuroscience in the spotlight.

CMT, or Charcot-Marie-Tooth disease, is an inherited disease that affects the nerves. Patients usually experience the first symptoms at a younger age starting at the limbs where muscle strength decreases. They also experience loss of sensation. CMT affects about 2.5 million people worldwide and around 3,500 in Belgium. This makes it the most common rare disease.

CMT Facts and Figures
CMT Facts and Figures

For CMT awareness month, we spoke with a patient and two researchers studying her disease. Hilde Uytterhoeven from Hasselt has CMT. Karen Libberecht is a doctoral student at the VIB and UHasselt researching the disease. Esther Wolfs is her supervisor, and lecturer and group leader at UHasselt.

Hilde Uytterhoeven, Karen Libberecht, and Esther Wolfs
Hilde Uytterhoeven, Karen Libberecht, and Esther Wolfs

A life with CMT

“My feet have no feeling anymore. When I could still take a bath, I once sat down in a pool of water when I felt it was actually way too hot. I didn’t have enough strength to hoist myself out, so I had to stay in it until the bath was full. Meanwhile, my feet and bum were burning. They were ‘only’ first-degree burns, but I still felt it for a while!” With this story, Hilde usually begins her visit to the researchers at the VIB-KU Leuven Center for Brain Research. She is invited there every year by Ludo Van Den Bosch to give scientists a view on living with CMT, the disease they are researching.

Although CMT runs in Hilde’s family, she wasn’t diagnosed until she was 32. “My mother and three sisters have the same condition,” Hilde explains, “I only got diagnosed when I tore my ligaments, and they healed way too slowly. They tested me and discovered that I also had CMT. Since then, I’ve deteriorated relatively quickly. Now I’m 52, I have trouble walking, and I already had several surgeries.”

While talking to Hilde, you don’t immediately notice that she is suffering from anything. She speaks rationally and energetically about her illness. It has had a considerable impact on Hilde’s life though. Because of her physical complaints, she had to stop working as domestic help. It also played a role in her divorce.

“As a thirty-something, I had to help 80-year-olds run errands, but I couldn’t keep up myself.”

CMT is hereditary, and Hilde has two sons, one of which also has the disorder. Hilde’s younger sister had her first child via IVF, so she could choose an embryo that did not have a genetic predisposition to develop the disease. This option did not exist when Hilde herself was pregnant. When asked whether she would have done the same thing, she doesn’t hesitate: “In my family, we can take our disability into account because we understand it, but society isn’t prepared for it. It isn’t easy to live with CMT, so if I had had the choice, I would do it. I sometimes feel guilty for passing my disease on to my son.”

The science

CMT is incurable. All Hilde can do is manage her symptoms with painkillers and use devices such as orthotics and a wheelchair. “This is because the disease is challenging to study,” Karen explains.

In her doctorate, Karen and her colleagues work on a model to better study Schwann cells (the affected cells in CMT-see scientific frame 'How does CMT arise'). This is the first step toward a potential therapy for the disease, she believes, “Unlike some other cells, Schwann cells are very difficult to grow in the lab. Usually, researchers use mice and rats to study the disease, but promising drugs that work in those animals have not yet shown results in humans. That’s why it’s crucial to develop good models that are translatable to humans.”

Karen and Esther believe the solution for such an accurate model is stem cells, a type of cells that can transform into any cell type. These are taken from human wisdom teeth, after which they are transformed into Schwann cells in the lab with the same mutation as in CMT. By doing this, Karen and her colleagues are unraveling the mechanisms of the disease in human cells. And, hopefully, a cure will follow.

Bringing science and people together

Karen studies the disease in the lab, but patients are essential to finding a cure eventually. ​ (see box 'The development of a medicine').

Hilde also tries to do her part in research: “I am now participating in a clinical study in which I have to take a bag of liquid twice a day. It’s a big effort because the bags must always be kept in the fridge. I also have to go to UZ Leuven every three months to get tested. Besides, I don’t know if I’m getting the real medicine or a placebo. That’s why my sisters didn’t want to participate, but I hope I can still help people this way.”

CMT is an orphan disease, meaning it is uncommon. This may have implications for research, as there is less funding for it, but Esther doesn’t notice this as much for now, “Even though CMT is not well known, we can’t complain about the funding that goes to our research. We get funds from foreign patient associations and have a very involved community of researchers. There is always room for improvement, of course. The more funding, the faster we can make progress.”

Recently, the UHasselt lab also set up an Instagram page to bring their research closer to people. “We notice several patients have started to follow us and became more involved in our research,” Karen says. “That gives us a sense that our work matters.” Esther adds, “I often get contacted by CMT patients asking if they can donate their wisdom teeth for our research. I can’t use them for now, but it’s nice to be able to engage with the people we are ultimately doing it all for.”

A hopeful future

There are many promising drugs for CMT, including those from the clinical trial in which Hilde is participating. However, the scientists are somewhat reserved when asked if we can be hopeful. Esther: “Even though many studies are underway, we are still waiting for the first results. There are also multiple types of CMT, so not every therapy can provide an answer for every patient.”

Yet Hilde remains optimistic: “I am happy they’re working on it. That’s the most important thing for me. I try to participate as much as possible to raise disease awareness and help scientists and research. Even though it may not help me anymore, I hope it can make my children’s or grandchildren’s lives easier.”

Want to know more?

  • Watch the video of Science Figured Out where Karen explains her research.
  • Read the blog about how patients can contribute to (neuro)scientific research.
  • Read how Augustine Tx, one of VIB's spin-offs, works on the development of medicines for CMT.
  • Watch the Kanaal Z episode about CMT.
  • Find out more about VIB Neuroscience in the spotlight on the webpage.
India Jane Wise

India Jane Wise

Science Communications Expert, VIB

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