We were six months pregnant with Gabby when we went to what we thought was a
routine sonogram. It was on March 29th, 2016 and at the sonogram we were
told that there was something wrong. The sonogram was indicating that there
were problems with Gabby's heart, there were problems with the skull shape that
Gabby had, and she was also incredibly small, I mean she's 1 percentile very
small. So from there we went to a number of appointments in the next 24 hours
pretty much to figure out is this a viable pregnancy? Are we going to meet our
daughter? Gabby was born 3 pounds 12 ounces.
We finally got a diagnosis of neonatal Pro droid syndrome which is a very rare
syndrome, they had never seen it. It's so rare that there have only been 40 some
cases since 1970 diagnosed. We went home with a very bad prognosis. Most of the
studies that had been done said that there's typically a seven-month lifespan.
So we came home thinking that was going to be our life, that was going to be
Gabby's life. I was actually Gabby's first doctor at
St. Louis Children's Hospital neonatal intensive care unit and that's when I
first met Mike and Lesley. And then after I was off service I continued to work
with them through our research studies. When we had performed all of the
clinical tests that were available to try to identify genetic diagnosis for
Gabby and still did not have an answer, we then recruited the family into our
ongoing research studies.
We are very fortunate to have here a large number of experts in gene code
deciphering and in understanding what the gene code deciphering means for
individual patients. We found that the DNA code changes in Gabby weren't
straightforward and actually required additional studies from Gabby. Her
parents, Mike and Leslie, were very willing to take those next steps with us
to try to identify an answer. Frankly without knowing what was going on with
her daughter all eyes were on 7 months, let's get to 7 months. And we celebrated
every month as daddy wanted to do and we made it past seven months and then we
decided we were going to live and we were gonna fight for Gabby. And right
around that time we had gotten some feedback from the hospital from the Children's
Discovery Institute and the genomics of birth defects project that we asked to
be a part of that they had found the potential gene that was involved in
Gabby's syndrome. And for us you know it's seven months after Gabby was born. It's
ten months into this journey of ours that we finally got an answer to
what was going on with our daughter, so we have the the project and the
Children's Discovery Institute to thank for that.
We were extremely lucky to have both kinds of resources here on the clinical
side and on the research side that made Gabby's discovery possible and
fortunately we're able now to provide Gabby and her mom and dad with some answers.
It's a lifetime movie. This doesn't happen. People don't get answers like we
got and it's just great. And it's important for us because we want to help
and we want to find Gabby's purpose and we think that with more information that
we'll be able to change the publications that are out there and give parents more
hope that there's life. There's not gonna be seven months, you're gonna have way
more than that. You can live now. You can be happy because these kids
are happy and they're thriving. You know in each birthday thereafter Gabby's
first birthday again we don't take those things for granted anymore, you know.
They're the kind of things that every kid should look forward to. Every family
should be able to look forward to that kind of celebration. Many
children and families come to St. Louis Children's Hospital to look for answers
that they cannot find anywhere else. Those answers are enabled and made
possible by the donations to research that everyone here at Playdate will make.
It's really refreshing for us to see Gabby doing what she's here to do and
it's to help her cause but then also to help all these other children's causes.
And you know that is just her first two years, you know. We look forward to all
the other bigger and greater things that she's meant to do. Today we celebrate. We
celebrate a discovery that led to an answer for a family feeling loss. We
celebrate a birthday that once seemed an impossibility. We celebrate Gabby. Our
wish is that tomorrow we celebrate again, that we always have the answers for all
families who walk through the doors of St. Louis Children's Hospital. Your
support tonight moves us toward curing childhood illnesses once thought
incurable. Our kids' health and well-being have never been more important and we're
primed to lead the way and taking exceptional care of children helped us
make our shared dream a reality. That way children everywhere get to
celebrate more birthdays as they should.