We have many things to tell you today. As you know, yesterday we had the expected visit with the renowned Dr. Stuart Lipton in his laboratories of the Scintillon Institute of San Diego (USA), where we received a great welcome and we were talking with the doctor and his equipment for more than two hours

First, they showed us step by step the experimental process they carry out in each laboratory. We were able to see with our own eyes those cellular models which he always tells us about, and which they get from the skin cells of children affected by this disease. Through a monitor, we could see the difference that exists between the brain of a person with this healthy gene and that of a person affected by this syndrome. We were astonished to check that when these models with the disease were treated with one of the drugs they have obtained, the signals of the affected brain were like those of a “normal” one.

After seeing the labs, they explained us everything in more detail, using several PowerPoint presentations, where we could see the successful results on mice. In addition, they patiently answered all the questions and doubts that were emerging. The first question was: what is the next step? The answer was clear: safety tests in other animals to be able to do the test in humans. If these toxicity tests can be done on other animals, the possibility that the pharmaceutical companies become interested would be much greater. And for this, as we expected, funds are what is needed, funds we are ready to achieve with this struggle that we started a few months ago. It is necessary to raise awareness about the importance of this research, because according to the Doctor’s words, this drug would not only serve to treat this disease, but also many others with similar characteristics.

We also had the opportunity of having Celia examined by him. He explored her sight, made her walk, assessed her reflexes, and asked us questions about her development, it was a great pleasure for us that an expert like him gave her such examination.

We left this meeting with great optimism and with an immense desire to continue fighting, because the only existing barrier is the economic one. The doctor fully relies on the benefits of this drug, so that he is also moving to get funds. Today, he had an appointment with an important American pharmacist.

A lot of diffusion is needed, firstly, to speed up the diagnosis, because according to Lipton there must be many more cases with this syndrome but with a misdiagnosis. And of course, it is imperative to disseminate this important research and make the world aware that this medicine would help both people affected by MEF2C Syndrome and people with other diseases of the autistic spectrum. Tomorrow we are having another appointment with him, so we will continue to soak up everything we can to make the most of the time spent next to him.

We continue with this fight with more energy than ever! We think we are facing a historic challenge, this research could improve the quality of life for hundreds of people, together we will achieve it!



MEF2C Association

We look forward together