By Jessica, MECP2 Duplication Syndrome, United States, January 14, 2020
I’ve always been a worry wart when it came to my son, Jackson. Although I never wanted to find anything wrong with him, I always felt like there was something we were missing. Turns out I was right. Throughout his life he has had quite the medical journey. And in July 2019 we finally got some answers. Not the answers we wanted, but a diagnosis nonetheless.
Jackson has a very rare genetic disorder called MECP2 Duplication Syndrome. This explains almost all of his symptoms that doctors couldn’t figure out. Unfortunately, this is a progressive condition. In males, approximately 55% don’t make it past 25 years of age.
Although he is currently doing well and making great progress, all of this can change in an instant. We are not sure if he’ll ever be able to walk or talk. And even if he does, he may eventually forget how. It absolutely crushes me to think that a day may come where I no longer get to see the happiest smile ever, hear the sweetest voice, or the most amazing laugh that this little boy has.