While it’s true that Rett Syndrome is mainly a girls’ disorder, it’s not true that boys can’t have it. In fact, those of us active on Facebook have probably noticed an increasing number of parents whose boys have been diagnosed with Rett. I suspect it has to be especially hard for these parents. Not only are their kids diagnosed with a debilitating disease but they also have to contend with the fact that their boys have what is viewed primarily as a girls’ disorder. They are the rare boys in the rare girls’ club.
Rightly so, these parents have been advocating for increased awareness about boys with Rett. I commend and applaud them. Boys with Rett and their families are absolutely a vital part of our community. All of us parents (and siblings, grandparents, and extended family and friends too)—whether we have daughters or sons with the disorder—are in this together and have Rett as our common enemy that we must defeat through science.
RSRT’s website has always included information about boys with Rett. But this group’s advocacy made me realize that it didn’t include enough. So we added more on “About Rett,” a prominent section of our site with links to our genetics primer, which gives more information about the genetic scenarios for how and why boys can get Rett. I hope you will read it when you get a chance to understand more about how Rett Syndrome affects boys, in some cases even more severely than girls. We have also added more about boys with Rett to some of our other materials.
Here is perhaps the most important thing I want to convey to all parents and families of boys —almost all of the research we spur and support at RSRT is just as relevant to boys with Rett as it is to girls, and our goal of effective treatments and a cure most definitely applies to both girls and boys. This includes gene therapy, protein replacement, RNA therapy, modifiers, all the downstream targets, the clinical research and the basic science we are funding.
The one exception is the reactivating the silent MECP2 approach. This approach relies on the fact that, because girls have one active and one silent X chromosome, beside each active mutated gene rests a healthy but silenced twin that in theory could be reawakened. Because boys have an X and a Y chromosome and don’t have the silenced X, this approach doesn’t apply. There are rare cases when a boy with an MECP2 mutation can also have Klinefelter Syndrome, which results in an extra X chromosome. In these cases, reactivating the silent MECP2 is a relevant approach for boys too. But all the other approaches apply to boys as well.
My message to families of boys with Rett is this—you are 100% part of our community, we welcome you and we count on your involvement as together we strive to make Rett history.