I know that a lot of people are hoping for cure for MECP2 Duplication Syndrome and perhaps a “Cure” for Rett syndrome at the same time. I am not going to claim that I wouldn’t welcome this, it sounds really great, but I have to say that I think it also sounds pretty optimistic to think this will happen within my child’s lifetime or in lifetimes of any of the children or adults who currently have MECP2 Duplication Syndrome.
So, I want to say that I would be very happy to have some research help find some things that will just make living with MECP2 Duplication Syndrome a little easier, just in case the “cure” isn’t at hand. I will start my list with just two things that I think could be achievable”
1. The seizure disorder associated with MECP2 Duplication Syndrome appears to be somewhat unique. Perhaps there is a particular drug or medication regimen that is well suited to it. I would love to have something that would make the seizures a bit more manageable. While the case series descriptions indicate that about half of those with MECP2 Duplication Syndrome have seizures, I suspect that it is much closer to 95 or 100% for those who make it to adulthood since many of the 50% without seizures are still in their very early years and seizures are reported as usually starting at ages from late preschool to mid adolescence. So this would be a great help.
2. We know that children with MECP2 Duplication Syndrome have terrible problems with respiratory infections, but I am not so convinced that all the reasons for this are well understood or what can be done about this is well understood. I would love to have research help with this. In the case of our son, one thing that seemed to be very helpful was to treat all respiratory infections even very mild ones with a salbutamol nebulizer, and also to treat gastric reflux which appeared to be more of a problem than aspiration. Whether this would prove helpful for others is unclear. Any guidance that would help families with this would be greatly appreciated.
I am not ungrateful to those who are working toward things that might lead to cure or at least a treatment aimed at the central condition, but I hope that researchers will not get so lost in trying to find this “cure” that some of these day-to-day treatment and quality of life issues are forgotten. Perhaps some other families have some additional ideas of where families would really like some help from researchers. Please add your thoughts using the comments form below.