Gabriella and her family were the winners of the Rare Disease Day Giveaway. For our first Rare Disease Day giveaway, we got over a thousand families who submitted their stories. We were able to gift Gabriella and her family their wish list!
Hi everyone, meet my daughter Gabriella. She is 8 years old and has a Rare Disease called Familial Mediterranean Fever. FMF is an inherited auto inflammatory disease. Symptoms are fever, inflammation of the joints, chest, and abdomen. A flare up is what it is called when she gets a recurrent fmf attack. Her attacks have lasted as high as 5 days to as little as 2 days. Gabriella's attacks are always a high fever around 103 and has gone up to 105, feet and legs hurting where she can't walk and stomach pain. Headaches are so bad that she gets dizzy, vomits and can't keep anything down and at that point she is hospitalized to help with pain and so she doesn't get dehydrated. It started around 6 months old. She was always getting sick, always getting these fevers. Always pushed off as just a virus but, I am a mom and us moms have gut feelings when something is wrong with our babies!
At 9 months she was diagnosed with FTT ( Failure to thrive) Never really on the growth charts her Dr started worrying. She was put on a few different medications to help with her weight gain. At 11-12 months I took her to an Infectious Disease Specialist where we spent lots of time doing so much testing one of the tests was a 7 fever panel test which included the periodic fever syndromes. Finally, I thought we were getting somewhere. At 18 months she was hospitalized again for a week at the JoeDimaggio Children's Hospital where her ID Specialist was & who came in to tell me during that stay that I WAS RIGHT!
Gabriella in fact tested positive for FMF! It was a sigh of relief sorta off because of her going through so much I could finally get her the help she needed. What I didn't know was that there was NO cure. That it could only be treated to help with the "flares or episodes".. So much time has passed since then. She is now 8 years old. She lives life as best as she can. Last year at 7 years old her new GI team at Nemour's Childrens placed a G-tube in hoping to get her up to weight as she is still under weight but currently working on it. She is on medication daily and that won't go away. I just help her live the best life she can! I know now what her triggers are as far as the fmf and what she can tolerate and what she can't . There is so much more I could sit here and write but I would be here forever as I am sure many of us living with a Rare Disease would! - Kasey