Tag Archives: rare syndrome

Rare, but together we are mighty

When your child is diagnosed with a rare syndrome, you are at first overjoyed: YAY! We know what “this” is! Then you are back to being overwhelmed: What do they mean they don’t know what “this” is! A parent who spent years searching continues on, looking for answers, looking for a cure and (most desperately) looking for someone who has been there before who can give you a road map.

I spent the first five years of Bridget’s life without a road map.  Not one doctor could tell me anything other than, we know something is wrong but we don’t know what it she has. Years of seeing doctors and specialists who would tell us that we are doing everything possible to make Bridget the best she could be, and to keep up the good work.

Then we were diagnosed with PACS1.

Journey over, right? Um how about it was just beginning. Continue reading