In honor of World Rare Disease Day, we wanted to shine the spotlight on a little girl named Jimena and share a little about what this day means to not only those who are affected by a rare disease, but also their families, therapists, doctors, and all of us at UCP-OC as well.
World Rare Disease Day is meant to raise awareness and impact change. Though the campaign mainly targets the general public, it also seeks to raise awareness amongst policy makers, public authorities, industry representatives, and anyone interested in rare diseases. This is a day we particularly enjoy recognizing as it is important to note that 50% of rare diseases affect children.
You may have seen Jimena in our 2016 Report to the Community. Jimena is one of the children we so proudly serve and she is affected by the rare diseases, Pulmonary Artesia and CHARGE Syndrome.
Jimena’s parents, Nereyda and Jesus, were filled with excitement when they learned they were pregnant with their first child, a daughter. Five months into their pregnancy, they received crushing news. Their little girl was showing abnormalities in her heart.
“At that time, our dreams about our little girl’s future changed in an instant.”
Nereyda and Jesus anxiously anticipated the birth of their baby girl, who was born at 40 weeks ready to take on the world.
Jimena was diagnosed with Pulomanary Artesia, Congenital Heart Disease, and CHARGE Syndrome, which is a complex genetic syndrome that creates swallowing and breathing problems. Pulmonary Artesia is an extremely rare birth defect of the pulmonary valve, where the valve that lets blood out of the heart to go to the lungs does not form correctly. With the combined challenges of her multiple rare diagnoses, Jimena has quite a fight in front of her.
Nereyda and Jesus found UCP-OC when Jimena was one year old. She has now been receiving In-Home Early Intervention for over eight months. Ana, her UCP-OC Child Development Specialist, has seen Jimena develop and grow at an amazing rate. Nereyda says of Ana, “Despite all of Jimena’s medical equipment, Ana’s dedication, patience, love and encouragement during their sessions is such a learning experience for us as parents and is so exciting to watch.” Jimena’s parents are thrilled to see the progress that she is making, and now that Jimena is crawling everywhere, we here at UCP-OC also cannot wait to see what she accomplishes next!
“I’m grateful that UCP-OC exists to help kids like Jimena reach their developmental goals and live a Life Without Limits, as well as providing parent support and education.” – Nereyda, Jimena’s Mom