Leonor’s Story: An Update
Back in 2019, we shared the story of Leonor, who was diagnosed with GM1 at age 9. Below, her mother shares an update on how Leonor is doing seven years later.
How has GM1 progressed for Leonor in the past seven years, and how is Leonor coping with the changes?
GM1 is a journey of gradual goodbyes to certain physical capabilities, yet Leonor faces this with admirable resilience. Although her body exhibits the motor limitations and loss of autonomy typical of the disease’s progression, she responds to these changes with a persistent sweetness. She has adapted her way of communicating. Today, her affection and her presence speak louder than any words.
How is Leonor doing now, and what has surprised you most about the progression of the disease?
Currently, Leonor requires constant and delicate care, yet she maintains a serene stability within her condition. What surprised me most about the progression was the contrast. The disease may affect her muscles and mobility, but it seems to hold no power over her essence. She remains a beautiful and affectionate girl, retaining a childlike purity even while physically inhabiting a woman’s body. This preservation of her soul in the face of adversity is our greatest surprise and source of pride.
What has surprised you most about the way Leonor has coped with all of these changes and challenges?
Her capacity to continue giving and receiving love. It is astonishing how she shows no bitterness; she accepts our care with absolute surrender. Leonor has taught us that dignity and joy can be found in the smallest details: a touch, a glance, or a quiet moment of family togetherness.
What advice would you offer to the family of a child newly diagnosed with GM1?
My advice is this: do not let the diagnosis overshadow the child. In the beginning, fear of the future can be paralyzing, but try to focus on the present. Celebrate every small victory and every day of comfort. Seek support but never forget to look at your child beyond their medical condition. They possess a strength we cannot fathom.
Is there anything else you would like to share?
I would like the world to see in Leonor what we see: a living lesson in unconditional love. On May 23rd, our goal is not merely to talk about a rare disease, but to celebrate the lives of these children and adults who, like Leonor, brighten our days with a light that no genetic condition can ever extinguish.
Read Leonor’s 2019 story below
Hello I am Sao Piteira and we are from Portugal. I am the Leonor’s mother who is 10 years old. She developed very well in early childhood and as an infant. It was not until age 7 that she began to sit and move differently on the floor. She fell a lot. We thought it might be some sort of inner ear issue. At 8 years old, she began to stutter and speak badly. We went to doctors. We did tests until the neuro-pediatrician asked for genetic tests. By age 9, we knew the diagnosis. It was as though a bomb went off. Leonor is a happy child. She attends a regular school, but with special education. She has many difficulties, but we try to stimulate her so that she will not lose her capabilities. She does swimming, hippotherapy, speech therapy and physiotherapy since she has scoliosis. I feel so anxious waiting for possible treatments for her because she is regressing. She is my life and my princess. Thank you all for your support.