Prenatal diagnosis

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Lacey: Syntelencephaly and partial Agenesis of Corpus Callosum

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Lacey was pregnant with twins when she was told twin A wasn’t developing typically. Doctors saw abnormal brain development, but didn’t have a definitive diagnosis. Shortly after birth twin A, who they named Tell, was diagnosed with partial Agenesis of Corpus Callosum and a rare condition called Syntelencephaly.

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Summer: Anencephaly

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Summer found out that Ares had Anencephaly during an early ultrasound and learned that if he made it to term and was born would only live a few hours at best. Rather than aborting Ares, Summer wanted to meet and hold him and if possible have Ares be an organ donor so other babies could benefit from his life. Ares lived a handful of hours and passed away. Summer she sees the positive outcome on herself and her family.

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Brittany and Tyler: Hydrocephalus, Encephalocele, and other complications.

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Brittany and her husband Tyler struggled for years to get pregnant. When she got pregnant with their son Max, they were ecstatic. During a prenatal ultrasound, doctors found a multitude of abnormalities, including a club foot, heart abnormalities, missing brain matter, and Hydrocephalus. Doctors also found that Brittany had Amniotic Band syndrome.

Max lived an amazing 5 weeks before he passed away. He constantly amazed medical professionals and his family with his abilities despite having almost no brain. He has forever changed his parents live’s, and has made a big impact on people all over the world.

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Maria and Brandon: Chromosomal Deletion 9Q

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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.

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Lacey: Tessier Cleft lip and palate and Micropthalmia

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Doctors told Lacey throughout her pregnancy, that her unborn son Christian had many complications. Once Christian was born, doctors diagnosed him with Tessier Cleft lip and palate with Micropthalmia.

Lacey says although it can be difficult when people stare, or give them looks filled with pity, Christian has has brought them an incredible amount of love and joy.

Lacey has written a book about her experience as a parent of a child with special needs, you can find it here.

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Kim: CHARGE syndrome

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When Kim went in for a prenatal ultrasound, doctors found her baby had a cleft lip and a heart defect. After her daughter Jackie was born, it was discovered that Jackie had CHARGE syndrome. In the begining Kim struggled with how to cope with Jackie’s diagnosis. Jackie has changed Kim and her family’s world for the better. She has shown them what really matters in life, and that it is precious.

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Kierra: 22q11 Deletion syndrome, Tracheomalacia, Pulmonary Atresia

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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

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Katherine and Jeff: Ellis-van Creveld syndrome

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While pregnant, Katherine’s baby Arabella was diagnosed, and then re-diagnosed with several conditions that were all fatal forms of Dwarfism, including Thanatophoric Dysplasia, Short Rib Polydactyly syndrome,  and a major heart defect.

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.

 

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Rebekah and Chris: Dwarfism-Achondroplasia

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Rebekah and Chris have Achondroplasia, a form of Dwarfism.

They have 2 children, one that has Dwarfism, and one that does not.

Rebekah and Chris open up about what it’s like living as a little person, and how they feel now that they have a daughter with the same condition.

Rebekah is a great resource to parents who receive a Dwarfism diagnosis for their child. You can read a letter she has written to these parents here.

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