We are celebrating the Rare Disease Day giving voice to our patients and their families. Now is the turn of Margaret Creus, leader of PedRetina, pediatrician and mother of a patient of Stargardt’s disease. Margaret is also a tireless fighter, a commited seeker of innovative solutions and experienced organizer of sports and cultural activities, gathering thousands of people in order to raise money for scientific research and to improve the quality of life of those affected with visual disabilities. Thanks to her struggle, many patients get emotional support as well as contrasted information about hereditary visual disorders and its possible treatments.
When the first symptoms appeared in your child, did you anticipate that he had a rare disease?
The first symptoms appeared when he was 6 years old. We were worried by the fact that he avoided light when he was drawing and he only used white and black colors. At the age of 8, the child complained he could not see the school blackboard and began showing alterations in visual acuity and color perception. The definitive clinical diagnosis came when he was 12 years old. Until he was 8, I did not imagine that he could suffer from a rare disease, but from that age on I began to suspect it.
What did it mean for you to have him diagnosed?
After several years of uncertainty and anguish, when we finally knew what was happening to him, I felt somewhat liberated. We were lucky to reach a diagnosis: he was affected with Stargardt’s disease.
Since then, particularly after the genetic confirmation, I become very interested in the world of low vision and blindness, eager to look for more information, find other patients and start working to support other families that are under similar circumstances.
After this experience, I felt I should not resign myself but rather I should fight hard to call the attention to the visually impaired group of patients, who I considered was ignored by our health system, both public and private.
After knowing the diagnosis of your child you decided to help the group of people who suffer the same pathology. Why?
Because I believe that our society is currently unaware of these people. There are still too many patients who lose their vision without a secure clinical diagnosis and not knowing that their disease is most probably hereditary and therefore, their children could also be affected.
There is a lack of comprehensive and multidisciplinary medical support providing an adequate response to the needs of the patients and their families. I feel this is appalling since we are talking about highly disabling pathologies that require support.
On the other hand, new therapies are emerging and some have already gone commercial but unfortunately, in our country and to our shame, many of the patients are not yet diagnosed. Just consider that in the European Retinosis Network there are currently 29 centres supporting 13 EU countries while Spain is totally absent. How is this possible? Do Spanish ophthalmologists have nothing to say? For all these reasons, I decided I had to do something.