How my son’s fever set our world on fire

First Published in 2020.

“My son has a rare undifferentiated autoinflammatory disease, which means he has recurring fevers, rashes, arthritis, interstitial lung disease, and a life-threatening blood disorder.”

“Wow! I am sorry! I think my friend’s aunt has an autoimmune disease.”

When I speak to the newest resident doctor at the hospital, they ask what his diagnosis is. “He has a rare undiagnosed autoinflammatory disease,” I say. The doctor notes, rare autoimmune disease.

It’s hard sometimes to speak out about your child’s health when you receive responses like this, because you know that people are only listening for the words that they understand. Words that are familiar to them, but rare disease research for children means studying illnesses that have names people don’t know or don’t understand. Some community responses we receive are, “what does that mean for him?” “How can we help?” In those cases, it feels like a breath of fresh air because it means people are trying to learn, to understand.

When Daniel was 6 months old, he had a strange rash that covered his body from head to toe. Then, at 13 months old, he got sick with a fever. We went back and forth to the hospital six times, had a hospital admission and multiple doctors’ appointments and nothing we did broke the fever – yet everyone assumed it was an ordinary baby fever…because kids get sick! 

Doctors are taught to assume that the simplest explanation is usually the best so as not to go around diagnosing patients with all sorts of exotic illnesses that are highly unlikely. Common illnesses are what doctors should expect to encounter. But sometimes, doctors forget that these rare cases still exist so getting a diagnosis and treatment can be more difficult.

After 28 days, Daniel would scream in pain when I touched his little body; he wouldn’t eat; his fever sat around 104 degrees and my baby’s body felt like he was on fire from the inside.

We packed him in the car and drove 3 hours to Toronto Sick Kids Hospital, where we waited 16 hours in an emergency room before we explained to the doctors what our hell for the last month had been. Again, we were met with sideways glances that said dramatic parents alert and we were told, “Mr & Mrs. Kinchlea, although this is urgent, it is not emergent. Schedule an appointment with rheumatology and come back.”

I broke, I had had enough. “I don’t think you understand. we drove 3 hours to be here – we haven’t slept in almost a month and our baby is not eating or drinking! We aren’t leaving!” Unfortunately, this is what it took for us to be seen and we were admitted to hospital again.

Shortly after we were seen by a doctor from rheumatology, it became a whirlwind. We were told the fevers had caused our son’s body to develop a blood disorder called Macrophage Activation Syndrome and that they needed to respond quickly because this issue can and would develop quickly if they did not – he was dying, and we had almost been dismissed…again. During that first month in the hospital, they took so much blood from his little body for testing and analysis, genetics, and monitoring that they considered needing to do a transfusion.

Today, Daniel is six years old, and his disease has progressed further: he has interstitial lung disease now, and Crohn’s, and his arthritis is systemic, meaning in every joint. He has a multi-drug treatment that controls some of his symptoms, and though he has bad days he has good days too. Five years later and still no diagnosis, but at six years old he has fought for his life, and taught us, what life is really about – that we don’t need all the answers to be happy, that the most important thing in life is helping others, that there is nothing that can hold us back if we set our mind to it, that the world needs to know his story so “autoinflammatory” is not such an uncommon word.

Research is advancing, but research needs his story and others like it. Undiagnosed does not mean nameless it means we live without a label, for now. But one day maybe there will be another family, and when they take their child into the doctor’s office with a fever, rash, and joint pain – doctors might think twice, they may send the referral a little bit sooner, monitor closer, and not wait till that child’s life hangs in the balance before they run those blood tests. Because of his story.

And maybe, someday – research will find a treatment, a cure, that will eradicate these illnesses once and for all. Then and only then, should autoinflammatory disease be an unfamiliar word. But today, we need everyone to ask “what does that mean?” and “How can we help?”