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Background
As Sawyers 1st heavenly birthday quickly approaches, we wanted to find a way to honor our sweet boy and his memory.
As many of you know as we’ve shared our journey, Sawyer was diagnosed with a one-of-a kind form of Skeletal Dysplasia, and was the very first in the world to be recorded with this specific mutation to the COL1A1 gene. As they continue their research on our findings, this will begin a newly found and considered the most lethal form of Osteogenesis Imperfecta, to now ever be recorded. This mutation to his COL1A1 gene caused our boys bones to be under develop, become brittle causing multiple fractures to his entire skeletal system, severe fetal growth restriction, and severely impact the curvature of his long bones.
Over the past year, we have worked with our MFM team and genetic counselors at Beth Israel Deaconess Medical Center and Harvard, as they continue research specifically on our case and one-of-a-kind findings.
As they continue their research, we would love to raise money towards their continued research of Skeletal Dysplasia, and more specifically for Osteogenesis Imperfecta (OI)/Sawyers COL1A1 mutation. We would like to do this in honor of our Sawyer, in hopes his case and findings, along with their research, can help future families who may be faced with this life limiting diagnosis.
Our hearts changed forever that day, and we truly left behind a big piece of us, with our boy. If you’ve made it this far in this post - thank you for helping us keep Sawyers memory alive. Thank you for helping us honor our boy! Contribute
As many of you know as we’ve shared our journey, Sawyer was diagnosed with a one-of-a kind form of Skeletal Dysplasia, and was the very first in the world to be recorded with this specific mutation to the COL1A1 gene. As they continue their research on our findings, this will begin a newly found and considered the most lethal form of Osteogenesis Imperfecta, to now ever be recorded. This mutation to his COL1A1 gene caused our boys bones to be under develop, become brittle causing multiple fractures to his entire skeletal system, severe fetal growth restriction, and severely impact the curvature of his long bones.
Over the past year, we have worked with our MFM team and genetic counselors at Beth Israel Deaconess Medical Center and Harvard, as they continue research specifically on our case and one-of-a-kind findings.
As they continue their research, we would love to raise money towards their continued research of Skeletal Dysplasia, and more specifically for Osteogenesis Imperfecta (OI)/Sawyers COL1A1 mutation. We would like to do this in honor of our Sawyer, in hopes his case and findings, along with their research, can help future families who may be faced with this life limiting diagnosis.
Our hearts changed forever that day, and we truly left behind a big piece of us, with our boy. If you’ve made it this far in this post - thank you for helping us keep Sawyers memory alive. Thank you for helping us honor our boy! Contribute
Funds are being collected and disbursed by Melissa Goozey, Sawyer's mother.
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