Thanks to a referral of a reader, in September 2014 we received the long awaited answer to Bridgetitis. It took five years, countless tears and traveling 18 hours by car. The visit was not covered by insurance (thankfully the genetic testing was) and we worked a lot of overtime to afford the expense.
It should not have been that difficult to find the diagnosis. The science was there, the accessibility to that science was not.
This is why today, during Rare Disease Month I ask you to tell a friend who may have a child without a diagnosis to ask for Exome Sequencing. Encourage them to not take no for an answer. Help them advocate for their child. They might not get diagnosed with PACS1 but they might find their village.
When Bridget was diagnosed with PACS1 we were told she was the only girl in the world with the Syndrome and that only two other boys (in the Netherlands) had been diagnosed. We quickly learned that the scientific community was way behind the parent community.
In the fall of 2014, Bridget was 1 of 16 children in the world. As of November 2016, there were 32 children diagnosed. Our village doubled in two years. Our goal is that the minute a parent gets a PACS1 diagnosis, they are immediately referred to our community. No longer should a parent get a diagnosis and feel alone.
Our parent community shares resources, therapies and laughter. We support one another. We lean on one another and we welcome every new family with open arms.
I would be lost without my PACS1 family.
Help your friend find their diagnosis brothers and sisters.