HFI

Yesterday I took Luke to see a GI specialist at Cedars, and he has been diagnosed with Hereditary Fructose Intolerance (HFI). On Friday we will find out the results of his blood work and whether we will confirm the diagnosis with a liver biopsy or (hopefully) through genetic testing. This diagnosis is a bummer, but Scott and I keep reminding ourselves that it could be a whole lot worse.

What is HFI? It's a genetic metabolic disorder that recognizes any sugar in his system as poison. This includes naturally occurring sugars in all fruits and most vegetables, as well as refined sugar in bread, baked goods, candy, etc.. If he continued to eat sugars he would likely, later in life, have renal failure. For a long time, Luke's symptoms have included yellow poop, vomiting, lethargy, and anemia. Luke's liver is currently measuring two centimeters too large. The biggest concern at this point about his liver is that it is "exposed" , meaning that a car accident or rough blow to the abdomen could be deadly.

The only treatment for HFI is modified diet, and with this he can lead a long and COMPLETELY normal, long, healthy life. The other lifelong concern will be hypoglycemia. Once the diagnosis is confirmed he will likely need a "med alert" bracelet, due to the hypoglycemia and the fact that if something were to-God forbid - happen, Luke cannot have a normal IV in a hospital.

Luke has a natural dislike for most of the things that make him sick. But there will be many adjustments for us as a family, especially as he gets older. We have to plan out how we will teach him about the condition. He'll never really be able to have a birthday cake, or champagne at his wedding, or take 2 bucks to buy himself lunch at school. Every year, I'll have to buy his Halloween loot from him so he can go buy a toy instead. Eating at restaurants and at other people's houses will be hard for him too.

So what can he have? Pasta, butter, Bisquick, eggs, milk, cheese, spinach, celery, potato, rice, fish, steak... lots of things. But he can't have most sauces- no tomato, catsup, most salad dressings, no soy or teriyaki sauce, no carrots... Also, "sugar free" is not necessarily safe, as it contains sorbitol, which he also cannot have.

For concerned family members, I am including a link for you! And I will keep you posted as his results come in.

http://www.bu.edu/aldolase/HFI/