Bridget Ames is a delightful, bright, smiling ball of energy who was told all the odds would be against her at a young age. Originally reported by Cape Cod Times, Bridget was diagnosed with PACS1-related syndrome and told that her life would be extremely limited and short; but that is something she’d surely prove wrong.
Bridget wasn’t diagnosed until she was 5-years-old, but at only 3-months old her family was on a mission to figure it out what was wrong. They were visiting doctor after doctor for a multitude of problems ranging from cardia arrhythmia, intense vomiting, soft trachea and more. The baby didn’t appear healthy and even a doctor told them that their child would never be able to roll around, talk or even grow. They were devastated.
Quickly, Ames reached out to a neurologist, Doctor Michael Robbins, and his response was much different than the previous physician. He told the family to never let someone put a limit on your child’s success. From there on, the Ames family would not look back and keep pursuing.
After starting a blog to discuss what symptoms and limitations their child was facing, a reader reached out and led her to an expert in Georgia, who eventually had the answer they were searching for. PACS1 was the diagnosis, a rare genetic disease that is rooted from a mutation that most likely occurred early on during the development of the egg or sperm.
The Ames family learned that Bridget would be the 15th child worldwide to be diagnosed with the disease. Learning about this, they sought out help. They went out to raise funds and bring awareness, and eventually made great contacts with state Representative Randy Hunt. From this connection, they were able to successfully get Governor Charlie Baker on board to put together an event. Just a few weeks ago, they had a celebration at Town Hall, bringing awareness to this incredibly rare condition.
