Climbing Kilimanjaro and cycling across Europe are just two of the gruelling sporting activities undertaken by a family directly affected by Huntington’s disease to shine a light on the neurodegenerative condition.
Calvados-based Charline Pouillet, her brother Théo, and father Olivier, who suffers from the disease, take on a new challenge every year to raise awareness and money for their association, On détonne contre Huntington (‘We are fighting against Huntington’s’).
Huntington’s disease causes a progressive breakdown of nerve cells in the brain, leading to movement, cognitive and psychiatric disorders.
It is called une maladie orpheline (orphan disease) because it is extremely rare, affecting five or six people per 100,000 and therefore the subject of very little research.
It has no cure, although medication exists to help relieve symptoms.
There is a one in two chance that sufferers will transmit the disease to their children. Théo, 20, found out in December that he does not carry the gene but Charline, 24, has inherited it from her father, 52, meaning she will definitely develop Huntington’s at some point in her life.
It could develop tomorrow or in 20 years. Though not much is known about the disease, a person’s environment, general health and level of stress can have a considerable impact on the symptoms, and when they appear.
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Isolation
Olivier first started developing symptoms around 11 years ago but did not initially acknowledge them and refused help from his loved ones.
This was a frustrating time for Charline and her family, as Olivier’s symptoms worsened and he became increasingly isolated, not wanting to interact with people.
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In France, you cannot force someone to receive medical help if they do not wish to. Olivier did not want any and refused to admit that his symptoms closely resembled Huntington’s, which his mother and grandmother suffered from.
Family relationships suffered as a consequence and Charline started feeling increasingly isolated: “The subject was completely taboo in the family and everyone refused to speak about it or even acknowledge it,” she told The Connexion.
She found out more about the disease online but lacked input from real specialists.
Starting On Détonne contre Huntington
Out of desperation, she decided to set herself a sporting challenge: climbing Mont Blanc.
“It started out as something purely for me rather than against the disease,” she said, “but it got some media attention. I started getting asked about the disease by journalists, and I did not really know what to say because I knew so little about it.
“Afterwards, I got loads of messages from people affected by the disease and general messages of support – support that I had not really felt in a few years.
“I realised that it felt really good and that I should keep on with these sporting challenges, because it helped me feel less alone,” she said. “I suggested that my brother, who is very sporty, join me.”
Within a few years, the siblings had cycled across France, cycled across Europe and run 200 km in 48 hours, setting themselves a new challenge every summer.
In 2022, the pair decided to climb Mount Kilimanjaro in Tanzania and, for the first time, invited their father along. They set him an ultimatum: prepare for the ascent properly by acknowledging the disease and getting physiotherapy, or do not come at all.
They had chosen Kilimanjaro because it is not the most difficult climb, mostly resembling a hike, although at an extreme altitude, and was therefore suitable for Olivier’s condition.
However, Charline nevertheless worried how her father would cope during the group climb. “It is difficult for him to eat, so we were worried about eating in front of lots of people, and we also knew he would not tell us if he was physically struggling,” she said.
In fact, it went much better than expected and Olivier was amenable and happy.
“For some time I had felt distanced from my dad, because it is extremely difficult to help someone who is refusing it, and he could be a bit aggressive about that at times,” Charline said.
“Then we found ourselves on Kilimanjaro and our dad had regained all his humanity. We had conversations that lasted much longer than before about real topics, and he would joke around.
“It was totally unexpected. We had gone to Mount Kilimanjaro thinking that it was just another sporting challenge, but we bonded with our father in a way we had not done for years.”
Their ascent was filmed by a documentary crew and Jusqu'en haut avec lui (All the way up with him) was released in 2023. During screenings at various festivals and events, Charline has been amazed by her father, who talks on stage afterwards.
“Before, he would barely talk to anyone. Now, we almost need to tell him to stop! There has been a total change and he has thrown himself into his new role. He is now the face of our association and a local hero, and it has been incredible to see it happen,” she said.
Since then, Olivier and his children have completed a half-ironman: 1.9 km of swimming, 90 km of cycling and 21.1 km of running.
It was adapted so that Olivier could complete it: he was in a canoe for the swimming part and on a recumbent bicycle for the cycling. However, despite the advice of those around him, Olivier did not see the point of aids for the running and completed that stage with no help and with his children by his side.
Earlier this year, the Kilimanjaro documentary was shown at the Assemblé nationale. Afterwards, Charline took part in a debate alongside Anne-Catherine Bachoud-Levi, the coordinator of Huntington’s disease research in France, and Jean-Philippe Plançon, the vice-president of Alliance Maladies Rares (the Rare Diseases Alliance).
“I realised then that what had started as just a sporting challenge had evolved into something that was garnering widespread attention. I could never have imagined it in 2018 and it really changed my perception of my actions.”
The sporting challenges are on hold this summer. Instead, Olivier will carry the Olympic torch (with the help of Théo, as the torch weighs 1.5 kg).
Charline, who works on the organisation committee for the Olympics, was also selected, and there will be a father-daughter relay.
She will be passing the torch to her father and Théo on May 30 in Falaise (Normandy).
On Détonne Contre Huntington is continuously evolving and the next sporting challenge, which is still being decided, will take place later in the year.
Uncertain future
Charline does not worry too much about her future. “When you learn news like this, and lots of people who have received terrible news testify this, a switch flips in your brain and you are far more interested in what is going on at this moment, rather than what will happen in three days or what happened two days ago,” she said.
“Since I found out that I carry the gene, I am less worried in a way because I am not concerned about tomorrow so much, and I do not project myself 10 years in the future.”
“I do not imagine myself being ill, as that is quite painful, and I try to be hopeful about future research, which is advancing. I donate what I can and do these challenges to support research, and I hope that researchers do everything they can to find a cure. It is out of my control, so there is no point twisting myself into knots.”
