Testimonial: Modulators are not an option for me

February 28, 2022

Sophie Vaillancourt's testimony

Summer 2021

On November 9, 2020, while the FK community was celebrating — and with good reason! — of the possible arrival of Trikafta in Canada, I cried all the tears in my body, curled up in a small ball on my bed. I was so sad and in so much pain because I could not get excited about the hope that so many people were waiting for... The hope of an improved quality of life, the possibility of regaining some lost abilities... The joy of others was becoming a stab in my heart. I was genuinely happy for everyone who will one day benefit from this treatment and at the same time I could not help but feel a certain sense of injustice and envy because I would never be able to take such medications.

I am a carrier of two different mutations: 621+1G¬ > T and 711 +1G > T, which both belong to class 1 (there are more than a thousand mutations in FK, divided into 6 classes according to the “defect” of the CFTR* protein). The “defect” of a CFTR class 1 protein is that it cannot be synthesized; in very rough terms, the “DNA chain” breaks during production, creating an incomplete, or completely absent protein, which cannot therefore perform its function. Modulators, such as Trikafta, do not seem to represent an option to solve the problem since they do not make it possible to modify/replace the DNA chain that must be repaired in order to be able to adequately produce the CFTR protein. The only hope for carriers of class 1 mutations would lie in gene therapies, such as the CRISPR approach, studied in muscular dystrophy, among others. I am confident for future generations because the reality surrounding cystic fibrosis is not at all the same as when I was diagnosed in 1986 and is constantly evolving. However, I do not believe that I will be able to benefit from these therapies personally, the process from research to marketing being very long... I have never put my hopes on recovery, preferring to “deal” with reality and fate, even if it does not always do me a favor emotionally and psychologically... because sometimes it catches up with me and I “deal” less well with all this. As always, I am rolling up my sleeves and moving forward in the hope of emotional, mental, and spiritual healing rather than physical...

My hope for the next few years is that the modulators will be accessible to all people with CF for whom they are intended to date, i.e. mainly carriers of at least one DeltaF508 mutation, who represent nearly 90% of the CF community in Canada. These people have the right to universal access to innovative treatments; without constraints, without regard to their socio-economic or medical situation, without restrictions. For the sake of equity, justice and equal opportunities. For the benefit of an inclusive society.

*The CFTR protein, discovered in 1989, is responsible for the transport of chloride in body fluids, which allows them to flow. It is this protein that is “defective” in people with CF, which therefore creates an imbalance in salt in liquids (e.g. salty sweat) and makes mucus thicker, which leads to all sorts of problems in the respiratory, digestive and reproductive systems.

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