We are just about ready to travel out of state to see a wonderful specialist. She is one of only a few doctors researching Aicardi-Goutieres syndrome worldwide and there is also a clinical drug trial that we want to learn more about. Many families have made this trip before us and it’s been time well spent for each of them. We have communicated by phone and email with this specialty clinic over the past 2 months. The most encouraging part has been that they know AGS. Our usual experience at doctors offices is lack of familiarity with this syndrome because it’s so rare.
What do we expect this visit to do for us? We do have a list of questions for the specialists we are going to meet, but more than anything, we want to focus on Eve’s quality of life. What can be done to slow down the progression of the symptoms we are experiencing? How can Eve live the fullest life possible? And how can we prepare as a family for Eve’s future needs. We also will have a new local doctor that we will meet two weeks after our trip and he will be overseeing whatever the medical care plans might be in the future.
We leave with hope that we may learn more, discover more and find a way to live with AGS. We have dreams but we also have our feet firmly planted on the ground. This syndrome is devastating, it is life limiting. There is no cure. But now we have the most brilliant minds in our corner and that is a reason for hope.
Friends, would you pray for us and think of us in the coming days?