When Daniel was a little boy, he used to describe his illness as his fireball. If anyone asked why, he would tell them that it felt like burning inside his body.
This description birthed a story that helped him to embrace his body’s uniqueness, and has since developed in him an amazing fascination with genetics and how they work. If you have ever read the comic book series X-men, and remember the mutant Pyro, this was what I first pictured when he talked about his fireball. If you don’t know what X-men is, it’s a comic series about a number of mutants with unique genetic traits that gave them super powers.
To try and explain to Daniel about genetic testing and what doctors were using additional blood work for, we used X-men as an example and told Daniel that he is kind of like one of those individuals with unique genetic traits that have developed super powers, except that instead of shooting fire from his body, he’s developed things like courage and strength.
One of the primary and most concerning symptoms of Daniel’s disease has always been fever. When he was younger, he would have constant high fevers that wouldn’t break. In some autoinflammatory diseases, fevers can last for a week or more and then will break and flare back up on a regular monthly cycle. Daniel’s fever was triggered by a virus when he was 13 months old and caused an ongoing fever for 28 days, which can also sometimes happen. After his first long stay admission at Sick Kids Hospital in Toronto he was put on a biologic medication to control the inflammation in his body.
We learned, by accident, during a pharmacy mix up and one missed dose of meds that within a matter of hours of missing a dose of his biologic medication that his fever would return—as would the high amount of inflammation and the macrophage activation syndrome. Only the meds seemed to be keeping his fevers controlled. His fireball was explosive.
We have continued to pursue a deeper understanding of his genetics but there is still a lot to learn. We do know that he has a unique gene that may have a hypersensitivity to biologics. We know that he has a double gene deletion on one particular gene that may or may not be the source of his illness and that both my husband and I have a single gene deletion on that same gene. We also know that our daughter did not receive either of those deletions, but that Daniel received both.
Prior to the births of either of our children, my husband and I went through infertility. After 6 years of trying we finally got pregnant but prior to that we pursued fertility testing. Oddly the results of that testing was that neither I nor my husband were the source of our infertility but that together we were not a good genetic match…
Genetics are fascinating: how families share gene codes, but none are the same. How your hair colour, or eye colour or the shape of your nose might be the same as your parent or sibling and yet we are all incredibly unique.
One of my son’s unique features that the geneticist found fascinating was his combination of red hair and brown eyes, and even the width of the bridge of his nose. When we did a full genome and GenX testing, everything they tested came back negative, so they started a further investigative search, and this is when they found the double gene mutation. What that means? And what that does? We still don’t know. So, the mystery continues as to what pieces of Daniel’s puzzle fit together.
We sometimes wonder if we will ever know. It’s been 6 years now without a diagnosis. There has been further progression of his disease, and yet his disease has been somehow mostly controlled recently. It’s as if we and the doctors are racing to put the puzzle pieces together without the picture and we are hoping we aren’t missing any pieces.
This is why the development of research in rheumatic diseases is so important. Researchers of autoinflammatory diseases need funding so they can put pieces of the puzzle together. We don’t know what the future of these rare diseases look like and we are only hoping and praying that research will reveal something, before our life experience does.