The gift of diagnosis, that gave us family.
Since becoming a mother, I wish my mom friends a happy-anniversary-of-becoming-a-mother to them on their child's birthday. It goes a little something like, "Happy six years of motherhood! You are doing a great job!" With PURA syndrome's 3rd birthday this week, I wanted to do the same and wish all of our PURA parents. Happy anniversary of three years since birthing this family.
The diagnosis of PURA syndrome was given to our children by medical professionals but there would not be a named syndrome without the hard work of so many moms and dads. Parents that would not take no for an answer. Parents that pushed for the greatest possible outcomes for their fragile kiddos. Parents that kept asking questions and kept expecting results. The doctors and researchers did the science - and continue to make the impossible possible - but it was at our bequest and because of our unending squeaky wheels.
De novo be damned, our kids have a family and a name because of us. Because we advocated and persisted. Because we never gave up. We have each other because we needed each other, and just like water, we didn't stop until we found our way to the river.
It does not matter if your daughter was patient 4 or patient 129, or if your son was weeks old or decades old when they got their diagnosis. They got that diagnosis because you fought for them. You believed in them. You wanted to give them the best chance at life.
Happy 3rd birthday, PURA syndrome, and congratulations to our moms and dads on being PURA parents for three years. You should be proud! You are rocking this PURA parenting gig! I see you and your beautiful children and I have never seen a group so filled with love.
Our little baby family has grown so much in three years. Let's celebrate and eat some pureed cake!
Very truly yours,
Sarah Bloom Anderson
Secretary, PURA Syndrome Foundation