Addie is a North Carolina native and stay at home mom to 3 boys and a daughter. Born legally blind, Addie has faced her share of struggles throughout life. Her present fight began after a general visit to the doctor on June 23rd. After routine bloodwork, her doctor was concerned about elevated liver enzymes, and made an appt for her to see a specialist the following day, but by the time she made it home that afternoon there was a message waiting…go to the nearest emergency room immediately! When she got to the medical center in Boone, N.C., she was admitted upon arrival. A series of blood panels were performed and she and her family were informed they did not have the technology at their facility to properly diagnose her, so she was transported by ambulance to Hickory N.C., over a hour away. Once admitted to the hospital in Hickory more in-depth testing was completed. When the bloodwork came back they were informed she has an aggressive form of leukemia known as AML; and she needed to be transferred to a cancer center immediately. After reaching out to several cancer centers a bed was found for her at the Wake Forest Cancer Center in Winston-Salem, N.C. more than 4hrs away from home round trip. Upon arrival at the cancer center a bone marrow test was completed, and the results of that test were devastating. Addie’s diagnosis is AML Leukemia with a rare gene mutation known as BRAF-V600E that has is only found in less than 1% of Leukemia. This mutation causes the disease to be hyper aggressive. The fact this type of mutation is so rare in leukemia means there are no available studies or treatment protocols in place. The doctors at the cancer center informed the family that without immediate intervention, Addie would likely not survive a month. Attached is a brief description of her heart breaking diagnosis:
Abstract
Mutations in the RAS/MAPK signaling pathway are recurrent in acute myeloid leukemia (AML), primarily involving NRAS and KRAS. In contrast, mutations in the gene encoding an effector protein, BRAF, occur at relatively lower frequencies in AML and are associated with poor outcomes. To date, no comprehensive analysis has assessed the clinical and molecular characteristics of BRAF-mutated AML. significantly diverges from prior studies of RAS-mutant AML. In this cohort, BRAF-mutant AML patients had poor overall survival with currently available treatments, including venetoclax-based regimens.
The challenges the family are now facing are countless. The fact Addie is blind, her husband deaf and their youngest son autistic in only the beginning. Family resources are limited and the 4 hour trip twice a week to bring the kids to see her is an added expense to an already struggling existence. Not only that but medical expenses, bills, and day to living costs are placing a strain both mentally, and financially on the family as whole.
It is unknown what the out come will be as there is no standard available …. Prayer at this time is the greatest hope.
Any help for them would be a blessing and greatly appreciated by everyone. Thank you