Why we created this blog.
In March of 2021, our family received devastating news. Our daughter Adeline was diagnosed with a very rare genetic syndrome known as Constitutional Mismatch Repair Deficiency (CMMRD) just a few months shy of her third birthday.
CMMRD is an inherited genetic predisposition for many rare childhood cancers, most commonly brain tumors and colon cancer. A child with CMMRD is at extremely high risk of developing cancer with the average first malignancy at 7 years old. The odds of having this syndrome are estimated to be less than 1 in one million. It occurs when both parents are positive for Lynch Syndrome with a mutation in one of the same "mismatch repair" genes (MLH1, MSH2, MSH6, and PMS2), and pass on both mutations to their child. Because of her diagnosis, Adeline must face a demanding schedule of lifelong invasive testing. And because there are fewer than 500 known cases in medical literature, there's very little guidance, resources, or support available to us at this time. Many doctors and geneticists are still unfamiliar with this condition.
This website is our journey of navigating this syndrome as well as helping raise awareness about CMMRD. The more research and awareness that is created equates to more lives that can be saved. We appreciate you following our journey and spreading the word.
Thank you for your support.
Love,
Ed, Christine, and Adeline
CMMRD is an inherited genetic predisposition for many rare childhood cancers, most commonly brain tumors and colon cancer. A child with CMMRD is at extremely high risk of developing cancer with the average first malignancy at 7 years old. The odds of having this syndrome are estimated to be less than 1 in one million. It occurs when both parents are positive for Lynch Syndrome with a mutation in one of the same "mismatch repair" genes (MLH1, MSH2, MSH6, and PMS2), and pass on both mutations to their child. Because of her diagnosis, Adeline must face a demanding schedule of lifelong invasive testing. And because there are fewer than 500 known cases in medical literature, there's very little guidance, resources, or support available to us at this time. Many doctors and geneticists are still unfamiliar with this condition.
This website is our journey of navigating this syndrome as well as helping raise awareness about CMMRD. The more research and awareness that is created equates to more lives that can be saved. We appreciate you following our journey and spreading the word.
Thank you for your support.
Love,
Ed, Christine, and Adeline