Infant Diagnosis

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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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Tori and Matt: Cerebral Palsy due to Cytomegalovirus or CMV

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When Tori and Matt’s daughter failed to sit up or roll over by the time she was 9 months,  they started to worry. Their Pediatrician referred them to a Pediatric Developmental Specialist. Through MRI testing, they found that Tori got Cytomegolavirus (CMV) while pregnant, which resulted in their daughter having Cerebral Palsy.

 

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Alyssa: Prader-Willi syndrome

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Immediately after Kimber was born, doctors knew there was something wrong. She slept constantly, and she was very limp. Doctors didn’t expect her to live past 6 months. After a few weeks a genetic test revealed she had Prader-Willi syndrome.

Alyssa was relieved to get this diagnosis , because this meant Kimber would live longer than the 6 months doctors predicted; those with Prader-Willi typically have an average lifespan.

Kimber has taught her parents, and those around her to love deeply and unconditionally.

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Snapshot story-Ariel: Cornelia de Lange syndrome

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While pregnant, Ariel had a nuchal translucency test on her baby. Doctor’s found that the fluid pocket on the back of their baby’s neck was measuring larger than normal, and later doctors discovered an abnormality with their baby’s heart. At 34 weeks pregnant they were told that their baby was not measuring up to gestational age.

After Mila was born she was diagnosed with Cornelia de Lange syndrome.

 

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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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Ann: Ataxic Cerebral Palsy and seizure disorder

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Ann has been a tireless advocate for her daughter Chrissy, who was diagnosed with Ataxic Cerebral Palsy and a seizure disorder when she was almost a year old.

Chrissy was born in the 1970’s when there were few resources. There was little area support for for Ann or Chrissy, so Ann created her own program, and parent network. She lobbied and joined the legislative coalition. She was laughed at, people told her she would never succeed or get funding for her program. Ann proved them wrong.

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Ileana and Lorenzo: Microcephaly and Cerebral Palsy

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During Ileana’s 20 week ultrasound, doctors discovered her baby girl, Giselle had ventriculomegaly. Ileana and her husband Lorenzo were offered termination as an option, but they decided to continue with the pregnancy.

Giselle, was diagnosed with Microcephaly as a young baby. She is now 3 years old and was recently diagnosed with Cerebral Palsy.

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Gwen: Microcephaly, Asparagine synthetase deficiency or ASNS, Dwarfism, Cerebral Palsy, Epilepsy

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Through Gwen’s second pregnancy, all tests came back normal and she went full term with her baby. After she was born,  her daughter was diagnosed with Asparagine synthetase deficiency– which includes Microcephaly and Epilepsy– as well as DwarfismCortical Visual Impairment, and Cerebral Palsy.

When she was pregnant with her third child, doctors discovered her unborn baby would be born with the same diagnoses.

Gwen opens up about what it has been like raising two profoundly affected children.

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