Nice choice of music. I’m not sure if anyone notices, but I believe it was from the song, “I will fix you”. ❤ My concern about “turning on” the gene is how much further damage can it do? We already know the higher CGG repeats can cause many problems ranging from muscle degeneration to cognitive and memory disorders in older adults. The FMRP is shut off at 200 repeats, shutting off Fragile X associated disorders, as well, while causing an entirely different set of issues with >200 repeats. Could turning on the fmr1 in Fragile X patients cause the symptoms the premutation carriers suffer, as well? Could we possibly be exchanging one problem for another? Or even adding to the problems that already exist? No judgement, by the way. I’m not a doctor. But I am waiting for results as a possible Fragile-Xer. And might I add that at this late age of 59, I’m horrified about a possible premutation diagnosis. I’ll be over the moon if the CGG repeat numbers return as 200. I already weathered the bullying storms in my life, from being called “Dumbo”, “Mr. Spock”, and “R€tard” to being physically injured due to shyness or ear flicking and grabbing. The bad grades and school anxiety due to inability to understand and pay attention. All that is behind me. But my family is riddled with dementia. My worst fear is getting dementia. So, this is where my comment derives. If I had my choice, and knowing all I think I know and experienced, I’d keep Fragile-X full mutation and avoid the premutation like the plague.
We understand how difficult this journey can be, and your son’s story motivates us every day to push forward with research. Thank you for your kind words, and we’re here for you and your family.
