Ross Murray's Border Report
Ross Murray
Ross Murray
is editor and publisher of the Stanstead Journal.
Posted 08.07.02
Stanstead, Quebec


She's not sick, but...

"She doesn't look sick," people often say when they see Abby. Thirteen months old and more than a year after being diagnosed with tyrosinemia, she really doesn't look sick. In fact, she isn't sick at all.

That's the thing with tyrosinemia. It's not a sickness, more like a "condition," the way you might describe diabetes as a condition. You don't notice it until something goes awry, and as with most conditions, she's under treatment to ensure nothing does.

A recap: At nine days old, Abby was diagnosed with tyrosinemia, a genetic condition whereby she lacks an enzyme to break down a protein amino acid called tyrosine. Untreated, the unprocessed tyrosine becomes toxic and attacks the liver. Untreated, it could be fatal.

Abby's taking a drug originally designed as a herbicide, of all things, called NTBC. It blocks tyrosine from breaking down to the toxic stage. But like a hose that's blocked, the flow of tyrosine backs up - it has to go somewhere. Too much tyrosine can cause neurological damage and vision problems. So even though her liver is more or less protected by the drug, the rest of her body is at risk.

For the past year, Abby has been on a low-protein diet, taking her NTBC, and drinking a special formula that gets the protein into her without the tyrosine.

So, no, she doesn't look sick. If it wasn't for the diet and the trips to Ste-Justine's in Montreal (only about every three months now), she would be like any other baby. Abby is bright, happy, gorgeous, active - a textbook baby.

And yet, and yet... Throughout the past year, there has been an almost constant low-grade worry. Abby has been slow to crawl, only finally getting it together this past month. Was the delay caused by the tyrosinemia? Not likely. More likely it was because we can't keep ourselves from picking her up and carting Her Majesty wherever she wants to go.

But the crawling - she drags her left leg a bit. Nerve damage? Tyrosinemia?

Again, she's probably just doing things at her own speed.

Or maybe it's us. We're cautious, especially when it comes to food. We can only give her so much, each portion weighed out according to the amount of protein it contains. As a result, we tend to stick with the early food - the purées and pablums that we know she likes and can have a lot of. We can't just pass her a crust of pizza to gnaw on like we did with the other kids. No licks of ice cream for her, no cheese, no bagels, no chocolate - not ever.

Instead, she'll have her own "special" food - low-protein breads and pasta that we've started to work with. Peanut-free peanut butter. Cheese-less cheese. Even ordering this food through the (very helpful) CLSC has been an adventure. We ordered a crate of six boxes of cookies and ended up with six crates of six. Biscuits anyone?

It's fine for now. Abby is not yet aware of the joys of food. Pancakes and chocolate milk remain an unknown to her. The complications will arise once Abby is old enough to look around the table and see her siblings chowing on burgers while she snacks on carrots and rice-flour bread.

Eventually, it will be a matter of disciplining her so that when she is old enough, she'll stay away from the bad stuff. Her condition after all, is not like an allergy - one hot dog won't make her sick. It would add up, though, over time.

So, no, Abby's not sick. We're working hard to keep it that way.