Maeve - Connecticut
Maeve was born in May, 2012. As part of the check-in process and welcome procedure, she had her heel pricked and blood drawn for testing. We didn't know at the time that the state of Connecticut tests newborns for several different genetic and metabolic conditions, so we were surprised when our doctor told us to come back in to meet with a geneticist, that she had tested positive for HCU. We would come to be very grateful for these tests.
At first we were confused, and more than a little scared. There is very little information out there about HCU. We didn't really know what to do or what to expect. With the guidance of our pediatrician, geneticist, and dietician, we soon began to understand what our daughter could look forward to, and what our daily routine would be like. We also found a tremendous resource in the stories of others with the condition.
Hearing first hand reports from other parents and people helped us navigate how to adjust our lives to accommodate the condition. In short, the devastating effects of homocystinuria can be avoided through long-term dietary management. By eating foods that are naturally low in protein, as well as low in methionine, the body can maintain normal levels of the metabolized proteins. If those proteins were to build up over time, the results would be toxic and possibly fatal. The first step for us, though, was to determine whether Maeve would respond to a vitamin B6 supplement.
After we determined that Maeve was B6 non-responsive, we began weekly blood draws to monitor her homocysteine levels. Her diet became a trio of substances: her normal baby formula; ProPhree, which is a powder formula containing no protein- only minerals and vitamins; and Hominex, a medical food whose protein is broken down into a state that an HCU patient can process. The approach was that she would get 80% of her daily protein needs from medical food, and the remaining 20% from "intact sources", or normal food. We planned that she would be able to have about 5 grams of protein per day, with anywhere between 150-200mg of methionine.
At the beginning, it was fairly easy. We carefully measured out the powder to mix with her formula and water. We were cautious not to spill any of her bottles, as they had precise amounts for her nutritional needs. This became a delicate proposition when Maeve wanted to feed herself. With a lot of patience, and a very attentive eye, we were able to let her hold the bottle and feed herself without too much food being lost.
Soon after that, we had to figure out solid foods. We knew that we'd be sticking pretty close to fruits and vegetables, and the baby food purees were great. We knew exactly how many calories each jar contained, and how many grams of protein she got. It was very easy to track. We were worried that she'd get stuck on the texture, and not be willing to try different foods.
As luck would have it, once her front teeth came in, she discovered the joys of crunchy foods. We found that the baby food designed to encourage self-feeding works out great. There are puffs and cookies and crunchies that are all zero-protein, and they add to the calorie count we're trying to meet. She also loves to eat melon, grapes, lettuce, cucumbers, and even some green peppers. We've found some all-veggie snack chips that are made with powdered tomatoes. She just loves to crunch on those!
Along with the food, we give Maeve a medicine called Betaine to improve the uptake of cysteine. The levels are being adjusted along the way, but she is currently receiving a daily dose of 1950mg. They come in capsule form, and we empty the contents into her formula throughout the day.
One of the things we read after Maeve was born was the importance of keeping a log. This lets the sleep-deprived parent keep track of the newborn's activity. We've kept this habit up, and it's made it easier to keep track of her progress as she grows. We've taken the logged information about how many calories she's taken in each day and put it into a spreadsheet. This lets us go back and chart her progress over time. It's made it really easy to see when she's been sick with a cold, for example, and hasn't been eating normally. We also use it to track against her blood levels, and working with the nutritionist we're able to adjust her diet to compensate for teething, colds, and other trends that may not be apparent from just the blood test results.