Chromosome Abnormality

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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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Karen: Down syndrome

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During her pregnancy Karen saw a high risk obstetrician- because of her age. She had routine prenatal ultrasounds and screenings and all results came back normal. Shortly after her son Caleb was born, Karen was shocked to learn he had Down syndrome.

Karen is a fantastic support and advocate for her son, and all individuals with disabilities.

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A Snapshot Story- Jessica: Down syndrome

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When the  doctor called Jessica  with test results that showed her unborn son would have Down syndrome, she immediately felt a sense of fear and anger she had never experienced before. Negative thoughts flooded her brain for days and weeks. She felt resentment and anger towards her pregnancy.

When she told her closest friends and family the news; their reactions were overwhelmingly positive and supportive. They showered her with love and told her how amazing he was going to be. And they were so right.

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A Snapshot Story- Dawn: Born Typical; A Misdiagnosis Of “Incompatible With Life”-

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Dawn saw several specialists during her pregnancy, who all gave her baby a grim diagnosis. She was told he had Trisomy 13- Patau syndrome, which was described to her as a condition that is incompatible with life. She was told her son would not live past birth. She was recommend by physicians, family, and friends to terminate her pregnancy. She and her husband decided not terminate, and their son was born as a typical baby- with no complications, or conditions.

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Sarah: Potocki- Shaffer syndrome

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Sarah had an ultrasound scare at a 20 week prenatal appointment. At a subsequent appointment with a specialist, she was told her baby was fine and not to worry. So after Betty was born, Sarah was shocked when a pediatrician told her she was global developmental delayed.

After many appointments and genetic testing, Betty was diagnosed with Potocki-Shaffer syndrome. Although Potocki-Shafffer syndrome is very rare, Sarah rallied and found online support groups, and other families with similar circumstances. She has an  awesome website, Bringing Up Betty, and does a Podcast that helps bring special needs families together.

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

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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.

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Maria: Currently pregnant with a fetal diagnosis of Trisomy 18 or Edwards syndrome

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At 10 weeks pregnant Maria found out her little girl would be born with Trisomy 18, or Edwards syndrome.

Maria chose to continue the pregnancy and is now 36 weeks pregnant. She has uprooted her life and moved to a new state so she can deliver at a hospital with the most advanced equipment, by Dr.’s with more experience.

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Sasha and Gary: Down syndrome

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Sasha and Gary went to a prenatal doctors appointment where an ultrasound showed enlarged ventricles in their baby’s brain, as well as holes in her heart. An amniocentesis revealed their daughter, Zoey, would be born with Trisomy 21- also known a Down syndrome. Zoey is now 7 years old, and her life has inspired Sasha and Gary to adopt a little girl from China with Down syndrome.

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Kristin and Chris: Full Trisomy 9

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At Kristin’s 20 week prenatal ultrasound doctors found multiple abnormalities. Although Kristin and Chris were offered to terminate their son, Ethan, multiple times, they chose to continue the pregnancy. Ethan lived 93 minutes. The geneticists found he had full Trisomy 9, which is very rare. None of their doctors had ever heard of a baby with Trisomy 9 being born alive.

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