Enfermedades raras

I Can’t Jump Ship From Facebook Yet

In 2009, a study found that the mothers of children with autism experienced a level of chronic stress similar to that of combat soldiers. Two and a half years after I read about that study, I was told that my son had autism. He was about to turn 2.

A few months after his diagnosis, he started doing something I didn’t understand. He was looking out of the corner of his eyes and flapping his hands in front of them. It was self-stimulatory behavior, or stimming, common in kids on the autism spectrum, and he did it intensely.

Putting him in his crib at nap time during this stage was hard.…  Seguir leyendo »

Por lo general, las enfermedades raras son ignoradas, simplemente porque son como su nombre lo dice: raras. Sin embargo, en su conjunto afectan a un gran número de personas. En Estados Unidos, las enfermedades raras se definen como aquellas que afectan a menos de 200.000 personas. No obstante, existen más de 6.800 de estas condiciones, y en todo el mundo ellas afectan a cientos de millones de personas. Y, aun así, sólo se disponen de unos 250 tratamientos para hacerles frente.

Una de las razones para esto es que la pequeña cantidad de pacientes dificulta el estudio de dichas enfermedades, así como las pruebas de fármacos.…  Seguir leyendo »