A Mother-Son Story: JIA, Genetics and our Unanswered Questions

Our family’s journey with Juvenile Idiopathic Arthritis (JIA) and genetics doesn’t begin with our son’s experience – it actually begins with mine.

I was diagnosed with JIA at the age of 7; I faced a difficult time with poor control of my symptoms, which led to significant damage by the time I was a young adult. Little did I know that this journey would continue with my son, Jason.

At 20 months old, Jason showed signs of joint swelling in his knee after fighting a viral infection. Initially, we were told that it was reactive arthritis due to the infection. I had doubts and was told Jason was no more at risk than the general population of being diagnosed with arthritis and there was no genetic involvement.

His pain, swelling and symptoms worsened to the point that he underwent surgery for septic arthritis. Over a period of 4 weeks, he was given antibiotics through IV and underwent painful procedures (it still haunts me to this day). On one of the last days we were there, we were seen by our physiotherapist Julia. She went over every little joint in Jason’s little body. She found other inflamed joints which finally led us to a diagnosis of JIA.

My goal was to ensure that Jason’s arthritis was well-controlled, so he wouldn’t face the same damage I did. With almost 40 years of research since my own diagnosis, we’ve been lucky to have a great team of doctors and therapists to help us manage Jason’s condition.

He has had multiple joint injections (I had these as well but luckily now they sedate kids, I remember having these as a child and being so scared). He had had infusions (which he loved), he has done injections at home, MRIs, ultrasounds, he’s had uveitis. It’s been an up-and-down journey but we have been lucky to have the team we do.

One of the most significant turning points in our journey was when we decided to pursue genetic testing for Jason. This was a frustrating process during which we were told that we may “find out things we don’t want to”. Despite initial resistance from some medical professionals, I was determined to understand the root cause of Jason’s symptoms, as it could not only help him but also other children. Jason’s genetic testing results showed that he had a rare single pathogenic mutation – a truncating LRBA mutation. The symptoms included recurrent infections (he has strep so often he had his tonsils removed – I also had recurrent strep) immune dysregulation autoimmunity, arthritis, uveitis, rashes, and psoriasis among other symptoms – all of which happen to run in my family. This was considered a rare genetic finding. I was excited we may have found the key to unlocking Jason’s disease and potentially have targeted therapy.

Getting to this point hasn’t been without challenges – neither are the next steps: testing is expensive and the government has refused to test my son’s father or me to determine if this genetic mutation was passed down or if it happened spontaneously. Despite this, Jason has been in medicated remission for a couple of years and his tonsil removal has helped with his recurrent fevers and strep infections.