Today, on the very day of her birthday, we want to welcome Laura, this beautiful girl who, from now on, will be part of this great family. Laura, who lives in Toledo, is seven years old today, and after more than six years of misdiagnosis, last week her parents received the definitive diagnosis: an abnormality in the MEF2C gene. With her, 3 cases are known in Spain with this syndrome.

As soon as they received the news, her relatives sought information on the Internet about the syndrome that her daughter suffers, and they immediately found our Association. They contacted us right away and we informed them about the research that is underway and about our objectives and activities. They did not hesitate to be part of our project wanting to be an active part of it.

From now on, we are 4 families that together with you all are fighting for a treatment for MEF2C children and are looking forward with hope.

Welcome Laura and Happy Birthday! And we also welcome her family, who every day strives to make her progress and, above all, to make her happy.

Here you can read a brief history written by Laura’s parents, where they tell the experiences they have lived until they knew the diagnosis:

Laura was born on November 3, 2009, in Toledo. Until she was five months she was a baby like everyone else. From that age we began to notice that something was wrong. Laura couldn´t sit, she couldn´t maintain herself erect, she couldn´t fix her gaze, she couldn´t hold anything in her hands, she never cried and especially, she didn´t show any interest in her surroundings. Only music and gleaming toys drew her attention.

We consulted the pediatrician and she told us not to worry, she said each child follows his own evolution, but considering our insistence Laura was made a cranial ultrasound before the closure of the fontanelle. That ultrasound did not show any abnormality and reinforced the theory that they were just “parent issues”.

Everything changed in the check-up of nine months, a new pediatrician told us that the child had a severe neurological disease and needed to be urgently sent to Neuro-pediatrics. 20 minutes later we had the first diagnosis: “Rett Syndrome”. We collapsed.

Laura immediately began rehabilitation with several sessions of physiotherapy and Early Stimulation with very slow progress.

Later, they began genetic tests to confirm Rett syndrome, but they were negative. Then it came a tour of possible syndromes. Now, six years later, Laura has a definite diagnosis: “a mutation in the gene MEF2C “.

Three days before her first birthday, Laura had her first crisis. She was admitted to the ICU since it was a long crisis. This was followed by other crisis, all of them with fever. She took several medications to palliate them (first Depakine and then Keppra), but these crisis haven´t returned for four years and she hasn´t taken that medication fot three years.

Today she goes to school and divides her time between CEIP Garcilaso de la Vega of Toledo and the Center for Special Education APAC, both in Toledo. She also receives physiotherapy, speech therapy and therapeutic pool.

Laura walks with difficulty and has stereotyped movements. She cannot control her sphincters, has not developed language but expresses in her own way and despite her intellectual retardation, she perfectly knows what she wants and what she likes. She is starting to use pictograms.

Laura is very affectionate, she likes being hugged and having someone to play with her keeping a very close contact.

She likes walking and travelling by car very much and loves watching cartoons on TV, on the tablet and on the mobile. She is passionate about food and eats everything but sweets, which she doesn´t like at all.

We think she is a happy girl. She is very good and loved. Her two older brothers (aged 21 and 16) feel passion for her and we, her parents, are very proud of our family.

With the diagnosis of mutation in the gene MEF2C we have known this Association and their families. This opens a new stage in which we can share experiences, fight for our children together and look forward with hope.


MEF2C Association

We look forward together