I am organizing this fundraiser on behalf of my sister Christine and her husband Ed. Their almost-3-year-old daughter, my niece Adeline, has an extremely rare genetic disorder called Constitutional Mismatch Repair Deficiency Syndrome (CMMRD). Please take a minute to read about it here. CMMRD is a condition that greatly increases Adeline’s chance of developing tumors in childhood leading to brain cancer, cancers of the blood, endometrial cancers, gastrointestinal cancers, and more. Almost all people with CMMRD syndrome develop cancer, often multiple times, before age 18. There is no cure.
On April 30, 2021, an MRI revealed that Adeline has a 2cm mass on her brain on the temporal/parietal lobe border. It was also uncovered that there are additional abnormalities on her brain that the oncologists believe could become tumors in the future. A meeting at the Children's Hospital of Philadelphia on May 20th confirmed the need for surgery as well as the need for additional surveillance of the abnormalities. Once the tumor is removed, there will be a pathology report with a recommendation for potential treatment options. This may involve chemotherapy, radiation, and/or immunotherapy, depending on how aggressive the tumor is.
The surgery is scheduled for June 15, 2021, two days before Adeline’s third birthday. She will be hospitalized for up to four days after her brain surgery. Adeline’s parents, Christine and Ed, will be booking a hotel nearby so that they can be with Adeline 24/7 during this time.
Their journey does not end post-surgery. In accordance with a strict and invasive surveillance schedule as advised by the AACR (American Association for Cancer Research), Adeline will need MRIs, colonoscopies, endoscopies, ultrasounds, CAT scans, blood tests, doctor visits, and more every 3-6 months for the rest of her life. Some MRIs on the brain and spine could last 2.5 hours or longer and require heavy sedation. Most individuals have a handful of colonoscopies in their lifetime. By the time Adeline is ten, she will have had over a dozen.
CMMRD is extremely rare (less than 500 cases known in medical literature), which means that Christine and Ed will need to visit specialized hospitals all over the world to meet the few experts in this field in order to give Adeline the best possible quality of life. This ranges from hospitals in New Jersey, New York, Philadelphia, Boston, Toronto, and more. Transportation and lodging are costly and typically are not covered by insurance.
Adeline faces lifelong invasive testing. The probability of her having multiple cancers over the course of her lifetime is extremely high. Christine and Ed, as parents, will be dealing with feelings of sadness, anxiety, depression, hopelessness, anger, and confusion for years to come. They know they need to be strong and stay positive for Adeline's sake. They will be engaging with therapists and support groups with other parents of children with cancer and rare diseases, many of which are specialized, and add on additional expenses.
Here is what your donation would go to:
-- Travel to various doctors, researchers, specialists in this field, who may be located anywhere in the world, given the extreme rarity of this syndrome
-- Lodging for any related travel
-- Unforeseen / Out of Network medical expenses
-- Potential gene therapy trials, not covered by insurance, as they become available
-- Therapists / Consultations with grief counselors/psychologists for the parents and Adeline
-- Supplies directly related to Adeline not covered by insurance (meds, bandages, etc)
I will share updates of how your donations have helped and on how sweet Adeline is progressing as I can. Thank you for reading and helping, and thank you -- from the bottom of our hearts -- for your continued support during this incredibly difficult time.