We believe it is essential to keep a close relationship with all of our patients and know their stories. This is why to celebrate the Rare Disease Day, we have interviewed Marcela Ciccioli, president of Stargardt APNES (Asociación de Pacientes y Padres de Niños con Enfermedad de Stargardt de Argentina) and mother of Victoria, a patient with Stargardt’s disease. Marcela is a tireless fighter, a source of energy, and a beacon of hope. Thanks to people like her, patients have access to their clinical and genetic diagnosis so that they can opt for emerging therapies besides receiving endless support.
Stargardt’s disease is the most prevalent hereditary macular dystrophy, affecting 1:10,000 people worldwide. This disease affects young people (usually under 20 years of age). The most relevant trait is the localized macular retinal affectation, which results in loss of visual acuity. Recessive mutations in the ABCA4 gene are the most common cause of this ocular disorder.
When the first symptoms appeared in your daughter, did you anticipate that she was affected with a rare disease?
Victoria, the youngest of my three children, is affected with Stargardt’s disease however, we have no family history of this disease. When he was 7 years old we became aware that she changed similar letters (b, d, l, h) when copying from the blackboard. When asked about the word she had written, she said: “It’s wrong”, and corrected it with the correct letter. We knew then she had some visual difficulties and visited an ophthalmologist. She was assumed to suffer from astigmatism, but the assigned correction treatment did not work. We never thought it was anything other than some correctable refractive defect, even less a rare disease.
What did it mean to finally have her diagnosed?
We happened to meet a clinician who was a retina ophthalmologist. Although the fundus of the eyes looked normal, he noticed some small differences in the color of the macula. He then asked for complementary tests, which showed that the retina was affected. We visited dozens of specialists hoping for a different answer. We were given all kind of explanations until finally we became aware we had to look for a specific diagnosis in order to help her.
An accurate diagnosis, although extremely hard to assume, allowed us to understand what was happening and plan how to help and support her. Studying and understanding the disease reduced the uncertainty and allowed us to focus on what was required to move towards an effective treatment, not yet available. We were lucky, most patients need from 5 to 7 years to reach diagnosis, and these years of uncertainty are also a waste of time to take proper care of the patient.
After knowing the diagnosis of your daughter, you decided to help others who suffer the same disease. Why?
Precisely because it is a rare disease, we walked alone for a long time without finding other patients. However, when sharing our experience we discovered that being together was much better: the boys and girls were relieved to find mates “who were seeing like them”, and what we devised to solve our problems could be also useful to others. The experience of the group became the source of solutions that allowed us to be taken into account, and increased our visibility and social recognition.