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Everleigh: SETD5 Clouds Our Rainbow and Sunshine Baby
Manage episode 326072200 series 3294266
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Everleigh was the answer to Brittany and Chris’s dreams, their sunshine and rainbow baby after years of trying to become parents. Clouds started forming before Everleigh was even born. Because early ultrasounds showed that she had some signs usually associated with Down’s Syndrome, they decided against further pre-natal testing. When Everleigh was born, it turned out that she did not have Down’s Syndrome after all.
However, after two or three weeks, Brittany was not feeding well. In fact, she was unable to retain anything. She was not growing, and in fact she was losing weight.
Thus began a nearly 4-year diagnostic journey. Fortunately, they live close to the Mayo Clinic and were able to get care from some extraordinary professionals. It turns out that Everleigh has a unique variant of SETD5, a gene that controls several other genes. Please listen to how this diagnosis has helped Brittany connect with other parents and the ups and downs of being part of such a small community.
Spoiler alert: We will be getting to know Brittany and Everleigh better in future episodes.
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