Meet Gianna

Born: 2006

Diagnosed: 2008

Gianna's Story: When Gianna was born, her family could immediately tell something was wrong. She was not breathing, her skin was blue, and she was covered with hair. After spending days in the NICU, she was diagnosed with transient tachypnea, irregular body temperature, and irregular heart beat.

Once she was home, she did not develop regularly. She vomited often, had irregular sleep patterns, and remained smaller than the average child her age. For months, her mother took her to her pediatrician hoping

for answers. It wasn't until Gianna was five-months-old and still not holding up her head or sitting up on her own, that the doctor realized something was wrong. Upon realizing Gianna's current pediatrician did not have any answers, she met with countless doctors for two years.

At one-year-old, she still was not saying any words and was not reaching milestones. Gianna was continuously being tested for different diseases and disorders that could affect her muscles, but no diagnoses was determined. The doctors told her mother that she did not have any muscle tone and that her levels were horrible, but they did not have enough information to accurately diagnose her.

When Gianna was almost two-years-old a family member saw an article about Cornelia de Lange Syndrome in the local newspaper and matched a lot of the symptoms with Gianna's. Gianna's mother immediately searched for a geneticist familiar with the disorder and Gianna got diagnosed right away based on her physical characteristics. Relieved, there was finally a diagnosis, her mother now had to brace herself for the information that followed. There was a chance Gianna would never walk, never talk, have an unpredictable life expectancy.

By two-years-old, she had started talking; by three she was walking. Gianna has been through a lot due to CdLS but she is always happy and always brave. She is always excited to see one of her countless specialists.

As a part of Gianna's CdLS she has Gastroesophageal Reflux Disease (GERD), is on the Autism Spectrum, has long curly eyelashes, connecting eyebrows, heart issues, trouble walking for long periods of time, night terrors, and more. Gianna continues to meet new challenges everyday and continues to smile her way through them.