MARC, A HAPPY FACE DESPITE HIS RPS6KA3 GENE MUTATION

The story of Marc

Marc, our son, is a wonderful 11-year-old enjoying life in the green, residential town of Sant Cugat (Barcelona, Spain). Not only does he fill our lives with joy as parents, but he’s also a great brother to his 4-year-old sister Laia. He enjoys puzzles, music, playing outside and long walks, among other activities.

His super-power is that he can draw a smile in everyone around him, without even uttering a word! ♥.

His life, however, is not as rosy as one might expect. Marc was diagnosed with Coffin-Lowry Syndrome, a rare disease caused by a genetic mutation in the RPS6KA3 gene. Behind his big smile and eyes full of energy, there is a young man trying to overcome multiple challenges in his daily life, such as delayed development, intellectual disability, difficulty to focus, poor fine motor skills and severe speech challenges.

This last symptom is the one I find most disheartening as a mother: because I know that communicate with others makes him really happy. Making great efforts, he tries to express himself with sign language, pointing or sounds. He makes himself understood to others around him, mostly through repetition and using his hands. Maybe that is his other super-power: he just won’t give up!

He fights every day with a routine that includes frequent doctor appointments to control possible complications that can be triggered from his disease: drop-attacks, cardiological pathologies, skeletal abnormalities, and others.

Over time, he has learned to accept a life different from others… as he grows up, he knows he will not be able to choose a profession, get married or start his own family. Despite his cognitive disability, he is fully aware that he is a different child with limitations that are unique to him. Why, I wonder, were these opportunities taken away from him?

Seeing the impact this has on Marc, and other persons affected by this syndrome around the world, I encourage researchers to focus on rare genetic diseases such as Coffin-Lowry Syndrome and this specific RPS6KA3 gene. The way it impairs the human body and cognitive abilities has a profound impact on a human’s life.

Thank you for reading our story,

Marta, a lucky mother with a wonderful son