In a conversation with Vive Michigan Magazine, Holly Anderton told us the story of Gwynnie, her three-year-old daughter born with Cornelia de Lange Syndrome, a genetic condition that changed her family’s life, but also opened them to new opportunities, experiences and a life purpose.
Gwyneth, or Gwynnie, as her loved ones call her, entered the world at 11:30 A.M. on December 5, 2015. When she was born at 34 weeks and 5 days, the doctors knew right away she looked a little different. “She had tiny hands and really low hairline. They knew she had some anomalies that made her unique,” said her mother Holly.
Almost immediately after birth, she had significant respiratory issues. They couldn’t make her breathe through her nose and they ended up taking her to Neonatal Intensive Care Unit (NICU). She was diagnosed with bilateral choanal atresia.
On Gwyneth’s third day of life, she had surgery to address this condition. However, she had other physical anomalies requiring physician intervention. Gwynnie was diagnosed with tethered spinal cord, kidney cysts, atrial septic defect, high blood pressure, small cerebral cortex and small stature.
Finally, when she was two months old, her parents learned Gwynnie had Cornelia de Lange Syndrome, which was likely the reason for most of her anomalies, aside from the choanal atresia. “After six surgeries and 117 days, Gwyneth came home. Assisted with oxygen support and her gastrostomy tube, she was ready to face the real world,” added Holly.
Cornelia de Lange Syndrome
Cornelia de Lange Syndrome (CdLS) is a genetic condition that affects multiple organ systems. The severity of CdLS ranges from mild to severe, but children with CdLS share similar characteristics, such as small stature, hands, feet, and head; joined eyebrows; long eyelashes; upturned nose; and thin, downturned lips. Also, physical and cognitive development is delayed, and speech and language are delayed or absent.
“Her condition makes her cognitively and developmentally delayed. It tends to be that way throughout her life. We think this will be ongoing; we’re not sure how it will be in her future. There is a spectrum: there are kids that are more severely affected than others, and she is too young now for us to know exactly how it will be for her,” said Holly.
March of Dimes
While Gwynnie was at NICU, going through therapies and interventions, her family received lots of support from March of Dimes, a nonprofit organization that works to improve the health of mothers and babies to prevent birth defects, premature birth and infant mortality. “They are one of the few organizations that actually focus on research for birth defects”; bilateral choanal atresia is considered a birth defect, and the surfactant therapy she received while in NICU is due to the work of March of Dimes.
The organization also has an NICU family support program, in which the NICU coordinators are always there, checking on families. “They are really a support for the parents because all the hospital staff are focused on the baby, and it was so nice as a parent to have understood what we were going through; they just seemed to go out of their way to make sure families have what they needed.”
Not only does March of Dimes support moms throughout their pregnancy, but also educates medical professionals and the public about best practices, supports lifesaving research, and provides comfort and support to families in NICUs as they did with the Andertons.
Although Gwynnie is cognitively and developmentally delayed, she is such a happy girl. She continues to surprise the family with the joy she brings to everyone’s life. “Her condition is definitely challenging: she doesn’t walk, and she doesn’t talk yet, but we are still hopeful; she is a super happy little girl, she brings so much joy to people and to our family, we just feel that’s her purpose.”
After what they have gone through, Holly and her husband Jonas are stronger than they ever imagined they could be. They have been thrown into a new world that opens up different opportunities and experiences. They breathe and smile and laugh again and are having fun with their little girl.
They even found a purpose in life: to give back to the community all the support they received when Gwyneth was born. Holly is now a volunteer for March of Dimes in their NICU Family Support Group, where she along with other parents that have had their babies there, help with tasks around the NICU.
She also participates in the March for Babies, an activity in which people march in support of the organization and raise money to expand programs and educate medical professionals to make sure that moms and babies get the best possible care.
“We are trying to build awareness of what the March of Dimes does and to remind parents they are not alone in this journey. If you’re a parent in a similar situation, don’t ever be ashamed of asking for help, don’t fear expressing how hard this journey is, and don’t hesitate to reach out if you’re feeling lonely; they are here to help,” Holly concluded.
Haz clic para leer en Español: Una condición de nacimiento única para una pequeña niña única