Dwarfism

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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: 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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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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Katie and Nathan: Rhizomelic Chondrodysplasia Punctata, or RCDP

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Katie was 5 months pregnant when she and her husband went in for a routine ultrasound. When the technician measured Claire, she found that her arms were a little shorter than they should be. They had a follow up appointment scheduled for four weeks later, thinking everything would be normal. At 6 months pregnant, they found out that Claire had a form of skeletal dysplasia, which they later found was Rhizomelic Chondrodysplasia Punctata or RCDP. This form of skeletal dysplasia is very rare and fatal. 

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