DiGeorge syndrome-22q11.2 deletion

We are actively collecting and updating new stories. We welcome you to check back often, and to share your story. If you or someone you know has a story to share, please contact us to add your story.

Share Your Story

Select a Category to View Stories

Click on the above dropdown to view more.

Most Recent Stories

Kierra: 22q11 Deletion syndrome, Tracheomalacia, Pulmonary Atresia

Listen to Story Read Story

While pregnant, Kierra went in for a routine ultrasound and was told her daughter, Evanna had a major heart defect. Doctors found several other indicators that pointed to Evanna having 22q11  Deletion- also known as DiGeorge syndrome.

After Evanna was born, Kierra and her husband received an official diagnosis of 22q11 Deletion syndrome.

When Evanna was 5 months old she had her first open heart surgery; and subsequently spent 400 days in the hospital due to complications.

Evanna has a major heart condition know as Pulmonary Atresia– MAPCA’s (Major aortopulmonary collateral arteries) which is often a complication found with 22q11 Deletion syndrome. She also has a critical airway, known condition known as Tracheomalacia.

Visit Kierra’s blog at theirvinefamilyblog.com

Read More

Bijan and Zach: Twins with 22q11.2 deletion syndrome, or DiGeorge syndrome, and Autism

Listen to Story Read Story

Bijan was pregnant when she was told one of her twins had some abnormalities. They declined an Amniocentesis, and decided to keep the pregnancy. Once born, they found their son Jackson had 22q11.2 deletion syndrome- DiGeorge syndrome.

Their sons are now 3 years old. Jackson’s twin, Walker, was recently diagnosed with Autism.

Read More