Rhizomelic Chondrodysplasia Punctata (RCDP) is a rare terminal form of dwarfism. There are less then 100 diagnosed children in the world.
At just a few days old, my daughter, Sophia, was unexpectedly diagnosed with RCDP type 1. We where told it would be a miracle for her to see her first birthday.
At almost two-years-old Sophia continues to fight, she has gone through five surgeries, and has spent a good amount of her life in the hospital. With a feeding tube, limited vision, and past spinal surgery– she still continues to fight.
Doctors say she will never be able to walk, talk, or even hold her head up. They even told me she would never smile or laugh. Sophia may not be able to walk, talk, or hold her head completly on her own but she truly has a smile and laugh that could brighten up the rainiest day.
Even though we have been told Sophia’s life will be cut short that hasn’t stopped us from praying, and believing that she will live happy and that she will beat the odds. With her being born two years to the day her uncle passed away, and we know she has someone watching over her.
Just a few months ago we received an e-mail stating that there is a new trial of injections that could possibly not only help Sophia evolve and grow, but may actually save her life.
The thought of her being taken away from us so young runs through my head every day. You could only imagine how happy we must be finding out there is something out there that might save her life.
But I’m not just happy, I’m scared. As a single mother traveling several states away from our home several times a year, it isn’t financially realistic, especially without a wheelchair van. If we cannot get to these places we could miss out on possibly saving Sophia’s life.
Sophia is asking you for your help. We need help getting the word out about Sophia and all the other children fighting this horrible disease. The only type of publicity these kids get is from the parents and with not a lot of people knowing about RCDP there isn’t much at all.
If you could, please share a story about my little girl. Any kind of awareness means the world to us and other families with kids fighting RCDP.