Ananta was diagnosed with Type 1A Glycogen Storage Disease, not MECP2 Duplication Syndrome like her brother Dave, but I think part of her story belongs here.
Ananta had some very competent and caring doctors who did everything they could for her. She was on very special diet that required feedings with dextrose every three hours around the clock and a new carbohydrate-free formula that had just come on the market. Nevertheless, she continued to have major health challenges and eventually we lost her.
Within a a couple of years after she was gone, researchers found that replacing dextrose feedings with cornstarch led to better outcomes for kids with her diagnosis. A few years after that, the “CHO-FREE” formula that we gave her every day was found to be dangerously deficient in an essential nutrient, the company that manufactured paid millions to families of kids who had been damaged by it, and the FDA was recommending criminal charges against the them. In just a few short years after Ananta died, research had produced some results that could have made a huge difference for her. I can’t say that Ananta would be alive today if those things were known just a few years earlier, but it is clear that she would have had a much better chance.
I have to admit that I have a bit of mixed feelings about research. When people talk about finding a cure, I wonder if maybe their expectations are too high. I also think it is important for us to accept and love our kids as they are and to give them the best lives they can have. I don’t want to waste my time and energy on some imaginary future in which the young man I currently know and love is replaced by a “normal” one. ….But I do think it is reasonable to think that some real progress might be right around the corner that could make my my son’s life both better and longer. …And I do think it is possible that this progress could come soon enough to help Dave and many others who are currently living with MECP2 Duplication Syndrome.
So, I just want to add my thanks and support to all the doctors and researchers who are working on better treatments, and my special thanks to all the parents who have taken on the 401 project and related efforts to raise money to support research. I hope we can find new and better ways to work for both a better life today and a brighter future tomorrow for our all our children.