The story of Stephanie
Olivia was born in October of 2014. She was 4 weeks early and only weighed 4lbs 2oz. She was considered IUGR and failure to thrive and spent 21 days in the NICU. I’ll never forget the day she was released… no more days would have to be spent in the hospital, no more good byes would have to be said each day – she was coming home! As the months went by it seemed like Olivia’s development was slower than normal. By five months old she was diagnosed with a deletion on her 4th chromosome. Our lives were forever changed. The next few months were spent learning all we could about Wolf Hirschhorn Syndrome, seeing doctors, finding a network of support, and learning how to be advocates for Olivia. Olivia immediately began early intervention services; physical therapy, occupational therapy, speech, special education and vision. By eight months Olivia had her first seizure, a common characteristic of the syndrome. From November 2015 on we would spend numerous days and weeks in the hospital. Olivia’s deletion resulted in seizures, cognitive and developmental delays, feeding issues, hypotonia and an atrial septic defect. She is VERY lucky.
Through all the obstacles in her way, Olivia persists and continues to amaze us. She has taught herself to sit, roll, stand and now is learning to walk. Her and her father spend each night practicing standing. The question is always, “Olivia, do you want to practice standing?” and we are greeted with a huge smile from ear to ear. She doesn’t talk yet but she understands us and communicates threw smiles and hand gestures. There is no question in my mind that she will one day walk and talk.
In the back of our minds though lies the question, “Wouldn’t it be amazing if we could take away all of her aliments and delays? If we could take away her seizures, help her to talk and walk and run like other children do?”
This is the purpose of all of this, our daughter, and a dream to make her life as full as possible. We are blessed with this little girl who is strong and stubborn. We blessed with this little girl who has changed our view point on what life is all about. She deserves the best, like all children do and like all children with rare diseases do. This is why Liv4TheCure exists.
The goal of Liv4TheCure is to find the right doctors and researchers to work with that are interested in Wolf-Hirschhorn and 4p- and what gene replacement therapy can do for our children. The possibilities are endless and could relate to a very large number of diseases and genetic mutations.