Help Support Sapphires Journey into CFC Rare disease World

Hello!! My name is Savanna!! In 2023, my husband David and I had a beautiful, sweet baby girl who we had prayed for a long time!

Since our sweet Sapphire was born, she has been faced with many health issues! Over the last year, we have fought hard for answers and have even been dismissed by a few doctors, including a genetic doctor. Finally, we have some answers!! Finally, we have some genetic testing to help us get the care our sweet girl needs, but now... now we need to travel to a specialist who has seen this genetic mutation.

Our sweet Sapphire has a mutation in her chromosome 19, Gene MAP2K2, where her lettering G has been deleted and replaced by a second letter A. This causes a syndrome called Cardiofaciocutaneous (CFC), which is an extremely rare disease. There are only 1000 known cases worldwide, and just about everyone has a different variant. For Sapphire, she is actually the first person they have seen with a deletion of G and addition of A.

We recently had to take Sapphire to see a specialist in Chicago that has actually seen and treated children with a RASopathy MAP2K2 gene.

Due to Sapphire being so sick and the cost of traveling it really put a burden on us finically. I was out if work for bearly a month before we traveled because of how sick Sapphire was and her being hospitalized. Which led to my monthly pay check only being $100 which is not enough to cover our house payment or the other bills i pay with my income. My husband works full time but his check pays most of the other bills, carpayment and groceries. Leaving us know way to pay our house payment, and Sapphires secondary insurance that is necessary to cover all of her therapy, hospitalizations, and other medical needs.

We are asking our community and praying for help to take care of these costs that were caused by our daughter getting very sick. Unfortunately there is no cure for CFC and this sickness will most likely be a new normal for our daughter.

I am open to answer any questions you may have about our daughters recent diagnosis.

Please Share our story and help us raise the funds needs to take care of our family.