Caring for Zebras

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 if you know the hoofbeats belong to a zebra and your child has already been diagnosed with a rare disease, especially one considered life-limiting? When your child is receiving care for a chronic condition, there can be a tendency of medical professionals to try and keep him or her comfortable and attribute everything to the known diagnosis. Oftentimes an acute and common illness is overlooked.

Children who are living with a rare disease still suffer from common childhood ailments like reflux, severe respiratory illness, and everything in between. Not everything requires complex or palliative treatment. Not everything that goes wrong with my child is related to his diagnosis of Canavan disease, and not everything requires palliative treatment.

When Max was a baby, before I had a thousand photos readily available on my Facebook page, I would 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. The sick child they saw matched the outdated and incorrect textbook definition of Canavan disease.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 beyond the typical life expectancy for Canavan disease, I have encountered another side effect of the zebra phenomenon. The “typical disease progression” answer. I find myself put in the position of demanding that the doctors save my child and not just make him comfortable. Palliative care is not always the answer, even in palliative patients. And even patients in the end stages of progressive diseases can be cured of an acute and common illness if treated properly. I have learned that once doctors begin attributing things to “disease progression” that’s my cue to show them 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.”

Ilyce Randell is the mother of two children, one typically developing 14-year-old boy named Alex, and one 19-year-old boy named Max who was born with Canavan disease. She has been working to help families affected by Canavan disease for over 19 years by advocating for patient rights, raising money for medical research and increasing awareness about Canavan disease. Ilyce has recently launched the world’s first international Patient Insight Network (PIN) for Canavan disease through a partnership between AltaVoice, (formerly PatientCrossroads) and Canavan Research Illinois. This tool is critical for advancing research and networking patients worldwide. Ilyce is also the President, Director of Patient Advocacy, and Cofounder of Canavan Research Illinois and Canavan Disease Research. You can read her blog War Stories from Holland.