Apr 11, 2018 | Anencephaly
Newlyweds Stephanie and Andy were so excited when they found out Stephanie was pregnant. During an ultrasound, their daughter Grace was diagnosed with Anencephaly- a condition that is incompatible with life. Doctors told them if Grace made it to term, she probably...
Mar 23, 2018 | Rett syndrome
When Cora and Tray’s twins, Charlie and Olivia, were missing some developmental milestones, they asked to be referred to a genetic specialist. At that time, the girls were diagnosed with autism but the doctor also wanted to run a test for a rare neurological...
Mar 16, 2018 | ADNP Syndrome, Autism Spectrum Disorder, Congenital Heart Defect, Developmental Delay, Rare diagnosis, Seizure Disorder, Visual Impairment
Nothing could have prepared Sandra for the life she has had. One of her twin boys was diagnosed with ADNP syndrome. They did not get a diagnosis until Tony was six years old which was difficult, but also a blessing. ADNP syndrome did not have a name and it...
Mar 7, 2018 | Congenital Heart Defect, Craniofacial Difference, Deaf, Goldenhar syndrome, Tetralogy of Fallot
Boy with Goldenhar Syndrome While Jessica was pregnant with her son Griffin, she and her husband Johnny were told he had a heart complication-Tetralogy of Fallot. It wasn’t until Griffin was born that they realized there were more complications. After running tests,...
Feb 24, 2018 | Club Foot, Congenital Heart Defect, DiGeorge syndrome-22q11.2 deletion, Tetralogy of Fallot, XYY
During a 24-week ultrasound, Jessie and Nathan were told that their son, Ammon, had a heart condition as well as clubfoot in both feet. After they met with a specialist, it was determined he had Tetralogy of Fallot with an absent pulmonary valve. These two conditions...
Feb 22, 2018 | ADNP Syndrome
Genie had extensive genetic testing while pregnant with her son Roland. The tests showed nothing abnormal. Very shortly after birth, Genie and other specialists noticed some abnormalities. It wasn’t until Roland was 4 years old that he received a diagnosis- ADNP...