The story of Julian
My name is Julian and I am 15 years old. I live in South Australia and I have a rare autoimmune/auto inflammatory disease called, TRAPS (Tumor Necrosis Factor Receptor Associated Periodic Syndrome) that affects 1 in a million. I also have Long QT Syndrome, Thrombophilia, and POTS.
TRAPS affects my every day life and I experience quite a few things like bone and joint pain, rashes, high temperatures, vomiting, swelling of my eyes and joints, stomach pain, and nausea. Some of my symptoms come and go (Like rashes, nausea and high fevers.) but some are constant (Bone and joint pains).
I was diagnosed with TRAPS in 2015 when I was seven and it took years for me to actually get diagnosed because not many people or doctors knew what I had. Ever since I was born I was showing symptoms of TRAPS, my Mum had no idea that I had it however. Obviously she was worried about me so she took me to heaps of GPs to figure out what was wrong. All of them said I was probably having growing pains and sent me home. My mother knew that something was wrong though, so she went to an amazing paediatrician who sent us to the Women’s and Children’s Hospital. An incredible Immunologist who is still my Doctor today managed to diagnose me with TRAPS!
Straight away he put me on etanercept, which worked for six months before it started to have a lesser effect. They had to put me on something else. So after some research they decided on anakindra injections. I started with just one but now I’m up to two daily.
The reason I want more people to know more about Rare Diseases is because I went through a very long and tedious process to actually get diagnosed with TRAPS and I can’t help but wonder if TRAPS were more widely known, it would’ve been easier for me and probably other people like me, to be diagnosed and start receiving the right treatment.