WAYS TO HELP:
Follow Adeline’s Facebook Page here.
Donate to Adeline’s GoFundMe page here.
Visit Adeline’s website here.
ADELINE’S STORY:
Copied from her Facebook Page.
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
Update November 2022
Adeline is now 4.5 years old and was diagnosed with brain cancer the day after her third birthday. She had her first craniotomy in June 2021 and a second craniotomy in January 2022. Both tumors were fully resected, but Adeline suffered a stroke in January before the surgery. She has been in weekly therapies for PT and OT to regain strength on her left side. Adeline also started speech therapy in September and has been making steady improvement. We travel to CHOP for appointments usually 2-3x a month as Adeline is receiving both immunotherapy and chemotherapy. We are hopeful that these treatments will target an inoperable tumor on her optic nerve. We are happy to report that her last two MRIs showed no new growth! The next MRI is scheduled for the week before Christmas. Adeline continues to be our fun, silly, imaginative girl despite everything she is going through and we want her to have the best Christmas ever! Thank you so much for your ongoing support and generosity to our family. We are so grateful!
Update September 2023
Thankfully Adeline is doing well but another bomb was dropped on our family last night. Ed has been having some strange symptoms for the last month and especially his vision was getting worse. He had an MRI yesterday and two separate brain lesions were discovered. He is currently at Memorial Sloan Kettering hospital in New York and is scheduled for a craniotomy sometime tomorrow.
One thing that happens a lot in CMMRD families, because the risk of cancer is genetic, many times the child and parent will be battling cancer simultaneously. Soon Daddy and Adeline will have matching scars. We won't know for sure until after the biopsy, but the brain lesions appear to be aggressive and malignant.
We are trying to stay hopeful. Thank you as always for your prayers and support. Special thanks to our family, friends, colleagues, and neighbors who are helping us so much during this stressful time. We love and appreciate you.