Shayla is spreading her wings - she obtained her drivers license. I asked her how it felt to drive alone for the first time. I thought it might have been a little scary. She said, "IT WAS GREAT!" She is a part-time volunteer at a local nursing home and enjoys helping with activities for older persons. Although she is not quite at the 23 year old maturity level, it is wonderful, but scary, to see her attaining independence.
Shayla had been experiencing some headaches, dizziness, weakness and problems at times with her eyes. She passed out one day in the shower. Random tests showed very low sugar levels. Eating smaller meals more frequently seems to be alleviating the problem. We are puzzled as to why this problem developed. Our local doctor thinks it may be the result of her weight gain over the last several years. Have others experienced anything similar?
During the middle of April, two phone calls again confirmed the importance of early diagnosis of MSUD. One call was from a genetics counselor asking for information for a family whose very sick child was just diagnosed at 1¸ wks. of age. The other was from Sandy Kiel telling of the birth on April 12 of a healthy 10 lb. baby boy named Jesse Ryan.
Sandy had an amniocentesis at 4 months of pregnancy. She and her husband Carl knew this baby would have MSUD. The medical center in Ann Arbor had prepared her local doctors and hospital personnel so that all went smoothly. Jesse was started on Mead Johnson MSUD Diet Powder on the first day of life. On the second day 10 cc of evaporated milk were added and 5 cc were given 3 times a day for the rest of the week. He has been a very contented baby in contrast to their two year old Jenna who was diagnosed through the Michigan State screening program at 5 days of age and was very fussy until her levels were under control. (See Jenna's history in the Nov. 91 issue.) Jesse's leucine level stayed in the 2 mg/dl range the first 24 hrs., and he was continuing to do very well at one week of age. In contrast, Jenna's leucine soon elevated to over 20mg/dl.
Starting a baby on MSUD formula immediately after birth is the best prevention of problems for these children. Few have this benefit. It requires prenatal screening or testing immediately at birth for at risk infants. It is unfortunate that carrier screening research is hindered due to lack of funding. There is work for us to do. All children with MSUD should have the opportunity to live normal, healthy lives. Let us work toward this goal.
Personally from the Brubachers
- Written by Wayne, Joyce & Shayla Brubacher