She and her husband Jeff were told to either terminate the pregnancy, or plan a funeral. They chose to continue the pregnancy. Arabella is now a beautiful 2 year old. She was officially diagnosed with Ellis-van Creveld syndrome, a sub-type of Short Rib Polydactyly syndrome. This syndrome has a 30-50 percent survival rate.
Katherine is now expecting her third child, Shiloh. Shiloh has also been diagnosed EVC, as well as a major heart defect. They do not know if Shiloh will live, but are grateful for everyday they have with her.
During a prenatal ultrasound, Leslie’s doctor told her that her daughter Lilah would be born with Achondroplasia, a form of Dwarfism. Leslie opens up about the emotional journey from denial to acceptance, and how blessed they feel that she and her husband were chosen to be Lilah’s parents.
Katie was 5 months pregnant when she and her husband went in for a routine ultrasound. When the technician measured Claire, she found that her arms were a little shorter than they should be. They had a follow up appointment scheduled for four weeks later, thinking everything would be normal. At 6 months pregnant, they found out that Claire had a form of skeletal dysplasia, which they later found was Rhizomelic Chondrodysplasia Punctata or RCDP. This form of skeletal dysplasia is very rare and fatal.