We’ve known from day one that Angelica has 16p11.2 duplication — a rare genetic condition that can affect growth, feeding, speech, development, and more. Even with a diagnosis, we’ve realized how much is still unknown. We’ve felt a bit stuck locally — not because anyone’s at fault, but because there just isn’t a lot of knowledge around it. After talking with our genetics team at CHOP for the little peanut, we were connected to a doctor at Boston Children’s Hospital who specializes in this duplic
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We’ve known from day one that Angelica has 16p11.2 duplication — a rare genetic condition that can affect growth, feeding, speech, development, and more. Even with a diagnosis, we’ve realized how much is still unknown. We’ve felt a bit stuck locally — not because anyone’s at fault, but because there just isn’t a lot of knowledge around it. After talking with our genetics team at CHOP for the little peanut, we were connected to a doctor at Boston Children’s Hospital who specializes in this duplic
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This is 10-year-old Caleb’s story; he was diagnosed with 16p11.2 duplication syndrome at the age of four. One in 17 people have a rare condition and families affected by them share a common struggle; a lack of awareness can lead to a delay in support. Our academics are seeking to remedy this through the ECHO Study. To find out more about this world-leading research or to participate in the study, go to https://buff.ly/2H7Cu1q A huge thanks to all the families that have taken part so far. | Cardi
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