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Mariah: THAP12 Mutation

Mariah: THAP12 Mutation

for good.  She is a fierce advocate by paving the way for future research to help others who may receive the same diagnosis.

Stories

Jessica and Chewy: Traumatic Brain Injury (TBI)

Jessica and Chewy: Traumatic Brain Injury (TBI)

 Jessica is a single mom and the parent of two boys, Britton and Chewy. Britton was born at 28 weeks gestation weighing only two pounds and 14 ounces. He is 13 years old now and has had many health challenges, including a stroke and brain bleed which has resulted in Traumatic Brain Injury (TBI).

Nikki and Sean: OI- Brittle Bones

Nikki and Sean: OI- Brittle Bones

They told us they thought he had a form of dwarfism based on his femur length. His femurs are shortened and curved, which is a marker for other conditions. At 32 weeks we got the results back that it was Osteogenesis Imperfecta- also known as brittle bones.

Laurel and Jaron: 18 P Deletion

Laurel and Jaron: 18 P Deletion

Laurel and Jaron didn't receive a diagnosis for their son, Shane, until he was 4 years old. Shane is diagnosed with 18 P Deletion.  18p Deletion He Started Missing Milestones “We assumed he was like any other kid until he started missing some mile markers. We started...

Sarah and Jeremy: Down Syndrome Adoption

Sarah and Jeremy: Down Syndrome Adoption

While looking through adoption files from an orphanage in Yerevan Armenia,   Sarah saw a picture of Maria, who has Down syndrome. Sarah told us, ” I saw Maria’s face, and I had seen many other faces over the years, and they are always just so cute and you want to adopt them all, but something was very different when I saw Maria’s face. It’s like God told me, “that’s your daughter, go get her!” 

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