maple syrup urine disease life expectancy

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. And even patients in the end stages of progressive diseases can be cured of an acute and common illness if treated properly. Palliative care is not always the answer, even in palliative patients. I find myself put in the position of demanding that the doctors save my child and not just make him comfortable. The “typical disease progression” answer. I would repeatedly explain that I expected them to figure out what was wrong with him, besides Canavan disease, and fix it!Īs 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 The sick child they saw matched the outdated and incorrect textbook definition of Canavan disease. Maple syrup urine disease (MSUD) is a rare but serious inherited condition. 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. Not everything that goes wrong with my child is related to his diagnosis of Canavan disease, and not everything requires palliative treatment.

Not everything requires complex or palliative treatment. Oftentimes an acute and common illness is overlooked.Ĭhildren who are living with a rare disease still suffer from common childhood ailments like reflux, severe respiratory illness, and everything in between. First rule out the more simple possibilities until those yield no diagnosis, then begin searching for a less common explanation.īut 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. 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. When you hear hoofbeats think of horses, not zebras.

Maple syrup urine disease life expectancy