Why am I a rare autoinflammatory disease advocate?

Why do I advocate? This is a question that I have to keep coming back to. The definition of the word advocate is “a person who publicly supports or recommends a particular cause or policy.”

I have had people tell me that the word advocate is not a commonly used word and isn’t something that most parents would relate to, but I disagree and I think that in many ways as parents we are all advocates for our kids— whether it is in school, sports, or when you speak with people about your child’s future.

It is something I have to constantly remind myself of because sometimes it’s hard to speak up and out; it’s hard to be vulnerable and to share your story. Reliving your family’s—particularly your child’s—struggle isn’t something that is easy.

So why do I define myself as a parent advocate? As someone who has a heart for “rare” kids?

When Daniel was first presented with a rash at six months old, we took him to see our family doctor. She is wonderful doctor, but the rash was unrecognizable to her so after a couple of visits I recommended a referral to an allergist, since this weird rash wasn’t going away. After we saw the allergist, she told us kids at this age rarely have allergies, and even testing him wouldn’t show us anything.

We left it alone, until at twelve months old he got sick with a persistent fever. The fever stayed for a week without breaking, getting progressively higher. He saw our family doctor again, and she told us, “He’s at daycare. Babies get sick. He should be better in a few days. If not, go to the ER.” A few days later, we went to the ER, they ran blood work, found nothing. They told us, babies get sick and sent us home.

After a few more days we went back to the ER. Different doctor, same response—we were sent home. We went back again: now our baby was lethargic, was running fevers of 104 every day. We were admitted to hospital, kept for a weekend, and sent home.

Kids get sick.

We went back to the ER for a fourth time. Then the doctor on that night thought maybe we should consider seeing a dermatologist for our child’s rash. We were sent home and told to wait for an appointment. We saw a dermatologist—the 7th health professional who saw our child in a span of a month. He was the first doctor who recognized what could be wrong with our child and that we should see a rheumatologist.

There was no rheumatologist in our city at the time so we were strongly urged to head to Sick Kids in Toronto, and the dermatologist would call ahead. Unfortunately, due to shift changes, the call ahead went to the wrong people. We sat in the ER at Sick Kids for hours, and when we were finally able to see someone we were told, “Although your child’s situation is urgent, it isn’t emergent.”

A parent’s intuition is not something to be taken lightly and had I understood back then what it meant to be a child advocate I probably would have pushed back sooner. But that day, at that particular ER I finally spoke out.

“I am sorry—we won’t be leaving. Our child has had fever for 24 days, and has been back and forth to hospital for weeks. We have driven three hours to be here and we will wait to see someone.”

We were finally admitted.

It turned out my son at that point had developed Macrophage Activation Syndrome and his disease was deathly serious and would not have survived if we hadn’t spoken up.

Today, we have been our child’s advocate for six years. He still doesn’t have an “official” diagnosis, and he has had more health complications. We have read multiple medical papers, spent hours talking with experts in his field and have learned about how to become an expert in him.

I have also talked with other parents of children with autoinflammatory diseases and they to have expressed the difficulty of having their child’s disease recognized. Often, it takes multiple appointments with different medical professionals for a child to receive a diagnosis or some kind of treatment. Sometimes it can take months—or years—and if the parents are exhausted by having non-answers and choose not to follow up, the disease can cause more damage the longer it remains untreated.

So why am I a parent advocate for children with autoinflammatory diseases? Why do I keep telling our story? Why do I publicly support rare kids?

Because a child with a rare autoinflammatory disease needs their disease to be recognized faster. Because children who go untreated have a much higher risk of complications. Because there is a growing need for rheumatologists in Canada, and a limited interest in these diseases. We need medical professionals of all kinds to understand the serious threat of these diseases.

If my son’s rare disease has taught me anything, it’s that he may be the first but he may not be the last, and if there is a way we can support another family or child by participating in research, or bringing a voice to these diseases, then some of what he has struggled through has a bigger purpose.

It is my hope that in being an advocate, we can inspire more medical students to consider a profession in rheumatology, and more general practitioners will recognize autoinflammatory diseases faster.

We tell our story in the hopes that it isn’t repeated.

One reply on “Why am I a rare autoinflammatory disease advocate?”

Well done! Your story is very familiar. I too advocate for these same reasons. It is about “life” for future generations and our beloved rare warriors.

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