Chronicle of a Relentless Quest: The Making of a Foundation

I belong to the third generation of a family affected by Huntington’s Disease, but it wasn’t until 2024, thanks to the tireless efforts of my second father, F. Cook, that we were able to confirm how the disease entered the family. My maternal great-grandfather, a Frenchman named Charles Novel-Catin (1883-1936), was born in Cavaillon, Department de Vaucluse, but settled in Venezuela.

The confirmation of our genetic background put an end to the search for answers that had been a constant in our family. So, we learned that this looming shadow first appeared in my grandmother Matilde, a mother of five, whose behavior and movements became somewhat erratic at quite an early age (around 30).

This was a distressing situation for my mother and her siblings. Not only did they have to get over the loss of their mother while they were still minors, but they also had to deal with the fear of inheriting an unknown genetic disorder. In a time when mental health and hereditary diseases were hushed up, this became an invisible yet overwhelming burden.

It was not until Arturo Arenas, the husband of one of my mother’s cousins, began to face the challenges of the disease that the idea of a foundation began to grow. Thanks to his tireless efforts, he was able to contact a group of American researchers who were studying HD in Venezuela. This group of scientists, led by Dr. Nancy Wexler, traveled to our town (Maracay, State of Aragua) and verified that the disease affecting our family was the same as the one they were studying in Lake Maracaibo, about 445 km away.

This was a pivotal moment for us as a family because it allowed us to fully realize what we already suspected: that HD is hereditary. Being able to donate blood and other tissues gave us access to reliable information and united us in our fight against this disease.

HD has not only left its mark on our personal histories, but has also awakened in many of us the need to confront and understand it. Thus, we embarked on a journey full of questions and challenges that led us to revive the idea of a foundation dedicated to helping families affected by this disease, the declared goal of the tireless Arturo Arenas.

I have dedicated my personal and professional life to raising awareness of this devastating disease. Although I studied psychology and my professional field is focused on counseling and caregiving, and although I am currently coordinating the scientific studies on HD being conducted in Switzerland under the direction of my impressive mentor, Dr. Burgunder, my most challenging training has been the experience of living with the disease both in my family and in my profession. Despite my work in Switzerland, my roots and my heart remain in Venezuela, where my family continues to face the challenges of HD.

Today, in honor of those who have come before us and those who fight this disease every day, we continue our relentless quest for knowledge and hope. Along the way, we find strength in closing ranks and committing ourselves to building a better future for generations to come. This commitment extends beyond our borders, uniting our stories and our efforts in the fight against HD.

Jessica Köhli
Bern, 2024