When I Need Doctors to Ignore the Prognosis of My Child's Disease

“When you hear hoofbeats think of horses, not zebras.”

In medicine this is a reference telling doctors to first look for a more common explanation of symptoms before searching for a rare or obscure diagnosis. It makes perfect sense. First rule out the more simple possibilities until those yield no diagnosis, then begin searching for a less common explanation.

But what happens when you already know the hoofbeats belong to a zebra, and your child has already been diagnosed with a rare disease? I can tell you from 19 years experience that a lot of the time I still have to remind the doctors to look at the whole picture and not just the disease.

Children who are living with a rare disease still have many of the common childhood ailments from reflux to severe respiratory illness, and everything in between. And sometimes the sound of zebra hoofbeats is so loud the medical team never even stops long enough to listen for the horse.

Not everything that goes wrong with my child is related to Canavan disease. This is something that I’ve discussed with other Canavan parents as well, but I’m sure it’s just as common in other rare disease communities.

When Max was a baby, before I had 10,000 photos readily available on my Facebook page, I had to bring a photo album with me to every ER visit just to prove to the team that, “No, he’s not usually like this.”

They would look up the description of Canavan and then come back puzzled about why we were even there because the unconscious, sick child actually matched the outdated and incorrect textbook definition of Canavan disease. I would repeatedly explain that I expected them to figure out what was wrong with him, besides Canavan disease, and fix it!

As Maxie has gotten older, and is now pretty well beyond the typical life expectancy for Canavan, I have encountered another side effect of the zebra phenomenon. The “typical disease progression” answer. And I find myself again put in the position of advocating for my son and demanding that the medical team look for something they can treat, ignore the prognosis of the disease, and save my child. I have learned that once they begin attributing things to “disease progression” that’s my cue to show off a picture of Max at his riding lesson the week before and remind them of the first rule, “When you hear hoofbeats think of horses, not zebras.”

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Thinkstock Image By: Peerajit