Ella was born a healthy child weighing 7 pounds 12 ounces. Throughout her first year, she babbled, said words and played with toys. Around aged 6 months, Ella would get extremely sick, stomach bugs, acid reflux, coughing and chest infections. She would wake up all through the night and her sleeping patterns were never the same. Ella was diagnosed with hypotonia aged 8 months and was unable to walk until age 23 months. Her walking was never a normal walk, and she could not jump or run. The doctors advised us she was developmentally delayed and we started extensive therapies.
Ella became less responsive to her name and wasn’t meeting her milestones around 18 months as her peers were in her class. My husband and I decided to have Ella tested for Autism, the evaluation came back that she had Autism, we continued ABA therapy with the hope Ella would regain her skills that were lost. Over the coming months Ella began to shake frequently and loose the ability to pick up food or use her hands to feed herself. The shakes mimicked Parkinson's and we became increasingly worried. Our doctor mentioned Rett Syndrome to us and we decided to rule that out with a blood test. We did the testing in St. Thomas, US Virgin Islands and the test came back negative and we were happy and continued down the path again of continuing therapies. A few months later another doctor recommended we go to CHOP hospital in Philadelphia and have extensive genetic testing done. We did this and the results came back, Ella had Rett Syndrome.
As a parent hearing this, I couldn't breathe all I could do was cry, all day, all night. I went on to google like most people and read the diagnoses and how this neurological condition affects your child is heartbreaking. Of course it said life span is short and children can die young from this disorder. I spent a few weeks in a grieving process, I can't explain, it felt like death. Then I realized how lucky I was that I could hug my child, kiss her every day and tuck her into bed at night. I knew it was at this time, I had to start an organization with my husband to create awareness and raise funds to find a cure, being a proactive parent instead of sitting on the fence about it. I let all my friends and family know on Facebook, which was extremely hard for me to do. I was surprised by the friends who reached out to me with support, but was also surprised by the people who didn't.
TODAY, Ella is unable to walk up and down any steps without assistance, she cannot speak, she can't bathe herself, she can't feed herself, is on daily seizure medication, hyperventilates, holds her breathe, and needs 24 hour care. In February of 2018, Ella was admitted to the Texas Children's hospital with Gastric Volvulus, (twisting of the stomach) and had emergency surgery. Ella was in hospital for two weeks, and is currently using a G-Tube to hold her stomach in place. Ella is a strong willed child, has so much courage for someone so small and she inspires me every day to do great things to help others.
Rett Syndrome can be cured, we need to create awareness and raise money to send to Rett Syndrome organizations to cure all children with Rett. Ella's disability is unknown to many people, and is rare with only 350,000 children diagnosed worldwide. Help us today to find a cure for Rett Syndrome. Thank you for your support. It means the world to us.
Shaine and Lauren Gaspard