Kaitlin had an average pregnancy, and delivery. Shorty after Mason was born, Kaitlin was told by doctors that he had “dysmorphic features.” He has a deletion of two separate chromosomes, a congenital heart defect, congestive heart failure, microcephaly, auditory neuropathy and many others. Despite the challenges, he is the light of his family’s life.
While pregnant, Nicole receive a pretty grim diagnosis for her unborn son, Jacob. Doctors found a cyst on his brain, and other abnormal development. Nicole did not think she would be able to carry Jacob to term, but through a second and third opinion, they were given more positive news and gained more hope. Jacob spent the majority of his first year in the hospital, and was diagnosed with Tracheomalacia, an abnormal brain stem, and a single gene mutation- that no one else in the world has been diagnosed with.
Valorie’s son Jace was a typical infant. Around 12 months, his head measurements were falling behind, and he was diagnosed with Microcephaly. He also had a severe sensitivity to the sun. Hearing there was a correlation with the two, Valorie sent a skin biopsy to a specialist in England who was able to confirm that Jace had Cockayne syndrome. Valorie had to push doctors and insurance companies to get the procedures and care that Jace needed. Valorie learned to become a fierce advocate for Jace.
While Maria was pregnant with her son Chase, a prenatal ultrasound revealed a cleft lip and some umbilical cord abnormalities.
After Chase was born, testing revealed he was missing part of a 9th chromosome on the Q branch, known as Chromosomal Deletion 9Q. Chase is the only known person with this condition, in it’s severity, in the whole world.