Tish first wrote about Brittany for our June '89 issue of the Newsletter. Brittany had been doing well, and Tish wrote at that time with a concern that families get the "whole picture" and not just the bad experiences. This update proves again that children with MSUD can do very well, in spite of an occasional bad experience, when they have been detected early and maintain good dietary control.
Brittany was born September 24, 1987 in Baltimore, MD. She was our first baby, and my mother was convinced that she was the most beautiful baby ever born, especially in the Seiwert family. Of course Mike and I readily agreed with her. Brittany weighed 7 pounds, 1 ounce, and was 19, inches long. All her initial hospital tests, including the Newborn Screening, came back negative. I began nursing her in the hospital and didn't seem to have any problems. For some reason, which to this day I will never understand but will bless her for the rest of her life, our pediatrician said she wanted us to stop by her office when Brittany was 4 days old. She wanted to do another Newborn Screening test.
I began having problems nursing Brittany when she was about 5 days old. She would nurse for a couple of minutes, then fall asleep. I was concerned she wasn't getting enough to eat. The pediatrician said to keep trying and not to give up. The pediatrician didn't seem concerned, so I continued trying to nurse.
During this period, Brittany was really not very difficult at all. There were some fussy periods, but nothing that seemed very unusual for a baby. I do remember how utterly sweet she smelled. But with the different baby products available these days, babies do tend to smell good. I was, however, becoming more and more concerned about the small amounts of milk Brittany was getting. Something just seemed to be wrong. And, unfortunately, we had no relatives close to whom we could go with our questions.
When Brittany was 11 days old, I called the pediatrician and asked her what formula to use, as I was planning to quit nursing her. That day, Brittany took the bottle exceptionally well. I felt MUCH better. However, the following morning, the pediatrician called to say that Brittany's Newborn Screening test showed a positive result. Brittany needed to be admitted to Johns Hopkins immediately. I was terrified! Was Brittany going to be taken away from us after only 12 very short days?
Mike and I rushed Brittany to the hospital. Dr. Lane Rutledge was there to meet us. After initial checks were made, we were told that Brittany had classic maple syrup urine disease. Mike and I were in shock. We'd never seen any problems in either of our families. It was decided that hemodialysis would be used to bring Brittany's levels down to manageable levels. We learned recently that her leucine levels had been approximately 2700 micromols (35 mg/dl) at that time.
Brittany was moved to the Neonatal Intensive Care Unit where they used hemodialysis. Several times we were asked to leave the room; one of these times, Brittany stopped breathing and was put on a respirator.
The next day, we were given more information on the nature of maple syrup urine disease. We were then allowed to begin feeding Brittany her first bottle of the special formula. Ten days later, she was released from the hospital and sent home.
Brittany's growth through the years has been above 50th percentile, in both height and weight. She has met every developmental stage. On March 27, 1990, Brittany's sister Taylor joined the family. From Taylor's development, we were able to better judge if Brittany developed "normally." So far, they have been almost identical in this arena (and believe me, that is the ONLY place they are anything alike).
Brittany had around four hospital visits due to elevated amino acid levels. In addition to these, there was a period of time when the doctors were testing whether she might be thiamin responsive. However, due to problems in managing her levels, it was judged that there was absolutely no response to thiamin.
Brittany's hair began to break when she was around 5 years old. It took us a while to notice it and associate it with low protein. Up until that point, Brittany had always gotten rashes around her mouth whenever her amino acid levels were too low. After increasing her total protein, it took nearly two years to grow all her beautiful red hair to one length again.
Brittany's last hospital visit was this past December. She had started with the flu on a Thursday, and was unable to keep anything down, including her formula without the whole milk. Neither Mike nor I were terribly concerned, because there had been instances of flu, colds, chicken pox, etc. in the past couple years without any episodes. But when Brittany woke up Friday, we knew immediately we would be making a trip to the hospital. She was very ataxic, and acted exceedingly goofy - if it hadn't been such a concern, it would have been funny.
Since we moved to Columbus, Indiana in 1992, we are treated by Dr. Rebecca Wappner at Riley Hospital in Indianapolis. We called Riley to determine where we needed to go for the IV treatment. Dr. Brian Hainline was on call and stated that we should come up to Riley immediately. Brittany was put on an IV Friday morning. However, by 5:00 Friday evening she seemed to be getting worse, not better. By this time, she was having memory lapses and didn't know who Mike and I were. (Anyone who read Dr. Morton's article on brain edema in the last issue will understand that these were the symptoms we were seeing.) Needless to say, I was in a panic. I called Joyce and Wayne Brubacher (practically in hysterics), who gave me much needed moral support. After a discussion with Dr. Hainline, the IV drip was increased above a maintenance level.
By 8:00 that night, Brittany was beginning to hold her mouth more normally (it was very slack all day up until this point). Mike and I began to feel reassured that things were going better for our baby. Interestingly enough, when Brittany was again able to eat, she had a real craving for salty foods, like potato chips. Just goes to show that the body knows its needs.
Brittany was released from Riley that Sunday. Looking at her that day, it was hard to believe that she was the same person who had come in with us the Friday before.
Brittany continues to do well physically and in school. She is now in second grade, and her last report card was all A's and B's (sorry, a little bit of mother's bragging). She's involved with dance, loves to swim, read, color and rollerblade. The doctors continue to be very pleased with Brittany's progress. Mike and I are taking Brittany to the hospital fairly often right now, as we are trying to readjust her diet to ensure that she is getting the proper amount of amino acids.
My common response to those who ask how Brittany is doing is, "So far so good." We continue to be "so far so good" and my hope for you is that you all continue this way too.
Featured Family - Brittany Fuller
- Written by Tish Fuller