Did you know that when Bridget was diagnosed with PACS1 there were less 15 people in the world diagnosed? Fast forward 5 years and we have over 100 children known to have PACS1.
Which is awesome but still ultra rare.
When I went to the Global Genes Summit last fall I was amazed be surrounded by parents, patients and advocates all of whom were there because we were rare. The strangest thing I learned was about cystic fibrosis.
Did you know that Cystic Fibrosis is considered a rare syndrome?
I was shocked.
I know of a beautiful friend that lost her child to the disease. David knows a childhood friend that lost her battle to the disease in her 40’s.
Yet a rare disease is something that affects 1 in fewer than 200,000 patients in the US. For perspective Salt Lake City, UT has just over 200,000 residents. Basically in the US we would have to populate the city of Salt Lake in order not to be considered rare. St. Lucia only has a population of 161,000. In order to garner the attention of researchers and funding, patients with a rare syndrome need to be larger than the Island of St. Lucia.
Maybe we need travel agents?
The truth is, we do need travel agents. We need people to know that there are people with their rare syndrome, and how to find us. They need to find their village, their support. They need to know they are not alone.
That is where you come in.
PACS1 parents know there are more children out there waiting to be diagnosed. Our population would not have soared over the past 5 years without the advancement of testing. We just need people to find us.
Please help share our message.
Because on an Island of less population than St. Lucia, we can use all the tourists we can meet.