“Your baby will likely be incompatible with life.” “Her heart won’t manage to beat on its own.” “Your body is doing all the work of surviving for her.”
These words swiftly knocked the breath out of me, as I sat clutching my husband’s hand in disbelief. I was eight months pregnant and had just received
a 4D Ultrasound to check for possible growth restrictions. Unexpected, unfathomable words from a doctor broke our hearts and rendered us completely
shattered and alone that day.
We were still reeling from our six year old son’s recent diagnosis of Asperger’s Syndrome. Just as we were beginning to process a world of information
on Asperger’s, and searching for ways to make his life easier, this new curve ball came at us out of the blue. Learning that our unborn daughter likely
had a lethal genetic disorder, and appeared to have multiple anomalies (including defects affecting her brain and heart) was a devastating shock.
Amniocentesis quickly followed and then there were days of gut wrenching waiting. We opted to have a FISH test completed, to see if our unborn baby girl
had a genetic disorder that would likely rob her of life. My husband and I were not afraid of her having disabilities – we could handle that. We just
needed HOPE; we needed to know that she would have a chance at LIFE. After a long weekend of merely surviving ourselves and trying to maintain composure
in front of our son, the FISH test results were in. Thankfully, the test ruled out the terrifying disorders that we all feared. We knew we still had
weeks of worry and careful monitoring ahead, but we were grateful. We had no guarantees or definitive answers at that point, but we had a shot at life.
That’s all we needed.
After weeks of monitoring her tiny heart and restricted growth, our beautiful 4lb, 1 oz baby arrived. Words can’t express how it felt to hear the first
cries of a child we had feared of losing. Our beautiful Ryleigh Cathrynne was here with us and we were over the moon! She was whisked away quickly
to the NICU, where she’d stay for three long weeks. The defects of her heart and brain were to be monitored, but did not appear to be life threatening
as once believed. In the early hours of our hospital stay, we were introduced to a wonderful, compassionate doctor from the Greenwood Genetic Center.
I remember his warmth in explaining testing that would be done on her cord blood to rule out rare genetic disorders affecting segments of chromosomes.
While we genuinely appreciated his caring, personable demeanor and his thorough examination of our baby, any thoughts of genetics and chromosomes exited
my hospital room with him.
After a few weeks, Dr. Skinner called me at home to personally deliver the results of the in-depth genetic testing that was done. Ryleigh was diagnosed
with a rare genetic disorder, a Chromosome 1q43q44 deletion. The conversation was a blur as I tried to breathe and to refrain from crying. I was terrified
with the unknown and what this all meant for my child. With warmth and sincerity in his voice, he delivered a reminder that has remained with me from
that moment forward. “Ryleigh is still the same beautiful baby she was before we had this conversation.”
In discovering that our daughter would face a life of challenges, limited independence and disabilities that no one would be able to fully predict, we
experienced tremendous grief. We had come so far and now worried what obstacles the future would present to her. Gratefully, as our family started
down this new path of life, Dr. Skinner and everyone we encountered at GGC helped us find HOPE.
After our first consultation at GGC with Dr. Skinner and our Genetic Counselor, Lauren McNair Baggett, my husband and I knew we were in the best of hands.
We were in a place of compassion and first rate care. They gave us an abundance of resources and referrals to immediately begin early intervention.
We began to realize that WE WERE NOT ALONE. As our new life unfolded, we felt compelled to somehow give back to this amazing place and to use our experience
to help other families in our shoes. We wanted to raise awareness, both for GGC and for other families facing a genetic disorder diagnosis. With the
help of GGC’s Dr. Mike Friez and a team of dedicated volunteers, our first Race the Helix 5k and 1 mile run/walk fundraiser event was born in October
Fast forward nearly six years…We are blessed beyond measure that GGC and our community has embraced Race the Helix. We are very proud and astonished
of the national and global support it has gained. With the help of many committed volunteers and generous sponsors, Race the Helix has grown and expanded
beyond anything we could have ever imagined. Our family has been impacted by an Autism Spectrum diagnosis and also a rare genetic diagnosis. GGC has
been there for us all along the way. It is for these reasons we are continuously driven to support the mission of GGC and to help families find hope
as we did.