Corey has Glycogen Storage Disease (GSD) type la, a rare metabolic disorder which means her body is missing a liver enzyme necessary to convert the stored form of sugar (glycogen) into the usable form (glucose). Glucose is the essential source of energy for the brain and is the necessary fuel for every cell in our bodies. Because this enzyme is missing, she must be fed constantly in order to get the sugar required for her body to function. It's a genetic defect, and my husband and I both carry the recessive gene. At the time I was pregnant, in l992, there was no testing for this disease. Nor would we have even thought to be tested since there is no history of GSD in our families.
We spent six weeks at Columbia Presbyterian in NYC when she was seven months old trying to determine what was wrong with her after she had vomited nearly every formula on the market. Then another three weeks at Boston Children's when she was l8 months to get her on the cornstarch regime. Not to mention various hospitalizations in between -- first for a liver biopsy, then to put the gastrostomy tube in her stomach, as well as emergency visits due to the stomach flu. We tubed her for three and a half years, until finally we went to the Kennedy Krieger Center in Baltimore, where we spent another six weeks teaching her behavior modification techniques so she would drink her cornstarch, though we still tube-fed her at night. It was our first step towards a "normal" life.
The gastrostomy tube is our life-saver. It's a plastic tube that's been surgically attached to her stomach so that we can open and close it at will. It's how we can feed Corey when she won't take things by mouth --which happened a lot when she was little. Or when she's sleeping or sick.
There will never be any marathons for GSD or benefit concerts or celebrity-studded black tie events. It's an orphan disease -- just like others you've never heard of like progeria or alpha-l antitrypsin deficiency or neurofibromatosis. And like most rare conditions, there is no cure.
Despite the strides we've made in 12 years, I'm always focused on what's to come. It's become part of my internal makeup. I have no idea what kind of mother I'd be if Corey were "normal." As it is, I sit on the sidelines of many a "mom" conversation. It's difficult to concentrate on homework concerns, playdate escapades or sports accomplishments when I'm consumed with triglyceride levels, uric acid, heart function and cholesterol. The fact is, I'm scared all the time for Corey.
Corey calls me a worrywart, but I can't help it. Unlike other mothers who can fly out the door to run an errand with nothing more than their wallets, I can't leave the house without Corey's next drink -- plus a few extras -- in case of spillage. When the clock struck midnight on the year 2000, I had already stockpiled cases of cornstarch "just in case" something happened to cornstarch deliveries at my local grocery store because of millennium glitches. I keep an emergency backpack in my car for those times when I might get stuck in traffic or my car breaks down.
I worry when we fly about what the security screener is going to say when he sees my bag filled with vials of white powder, syringes and tubes. (I carry a note from my doctor, but still.). I worry that Corey will never see the world after college. Backtrack: I worry about her going away to college, and I envision her home forever.
Corey's like an old-fashioned hour glass that runs out of fuel when the sand disappears. At night, we've been able to stretch her time limit to four hours, which means there are feedings at l1:30 p.m., 3:30 a.m. and 6:30 a.m. I do the 3:30, which means I sleep really well between l0 p.m. and 3:30 a.m. but after 3:30 a.m. I'm usually up worrying about all that I need to do the next day. When I finally drag myself out of bed at 6:30 a.m., I feel like I haven't slept at all.