Birthday Collection 2025

The Eick Family:

Christine and her daughters Adeline and Scarlett. Both Christine and her husband Ed have Lynch syndrome and carry mutations on the PMS2 gene. They learned in 2021 that they had the same mutation and passed on both copies to Adeline, so she has an ultra rare genetic condition called constitutional mismatch repair deficiency syndrome (CMMRD) and her risk of cancer is far higher.

Adeline was diagnosed with anaplastic astrocytoma grade III (brain cancer) in June 2021, the day after her 3rd birthday. She had brain surgery, radiation, and chemo, and suffered a stroke and recurrence in January 2022. She had another brain surgery and started immunotherapy. Adeline also has a tumor on her optic nerve (inoperable, likely benign, but needs to be monitored as it could affect her vision). She gets brain MRIs every 3 months as well as frequent scans for all the other cancers of which she is at risk. She is in therapies for PT, OT, and speech and currently working on getting her weight back up.

Ed was diagnosed with glioblastoma grade IV (terminal brain cancer) in October 2023. After multiple brain surgeries, radiation, and numerous rounds of chemo including a trial drug that they were hopeful would keep the cancer at bay, he suffered extreme brain swelling in October 2024 that led to another surgery and a 2-month hospitalization. In November it was discovered the cancer had begun to spread down his spine (known as leptomeningeal spread) which has an incredibly poor prognosis of a few weeks to a month or two. Ed passed away at home on hospice on December 8, 2024. Christine has been out of work since October 2023 caring for her husband, her girls, and her own mental health. You can follow along with Adeline and her family’s journey here

The Ruffer Family:

At just 16 months old Gavin was diagnosed with MECP2 Duplication Syndrome which is a rare, progressive neurological disorder that primarily affects boys often including: low muscle tone, feeding difficulties, poor or absent speech, constipation and/or reflux, seizures that may not improve with treatment, delayed development of motor skills, developmental regression, recurrent respiratory tract infections, often fatal, and an average life expectancy of 25 years.

Gavin is currently enrolled in a study at Children’s Hospital of Philadelphia where, over the next two years, they are measuring the amount of protein (which MECP2 boys have too much of) on his brain.  His family is traveling back and forth to CHOP every two to three months.  While at CHOP Gavin undergoes evaluations, bloodwork, lumbar punctures, and punch biopsies.  In the meantime, Gavin continues to go to PT, OT, and speech therapy at the Midland School.