Jeannine Gauvin is the mother of three teenage boys. Two of them have MSUD. What a challenge! She sent a picture at Christmas and mentioned I could use it for the Newsletter. Since families are interested in how the older children are doing, I asked Jeannine to write a brief account to go with the picture. When I did not receive one, I called her and learned she recently had an acute, severe attack of iritis which caused her to suddenly go blind. Eight weeks later she was recuperating and had some sight back. Doctors are still not sure of the cause.
She told me Allen and Jason are doing fine just now. The boys have classic MSUD. Allen was diagnosed at 9 days of age and hospitalized, but was not started on formula until 3 weeks old. Jason was diagnosed by amniocentesis and began the diet at birth. Both boys have been similar in their growth and development. Both had numerous hospitalizations doing the first several years of life but these decreased significantly as they grew older. Infections affected the boys differently. Allen would became lethargic whereas Jason tended to be hyperactive, neurotic and develop seizures. Jeannine monitored their diets very closely, and they maintained levels of 200 to 300 µm (2.5 to 4 mg./dl) when they were younger. The boys are very disciplined in their diets and now make their own formulas. Although responsible for their diets, they need some reminders from Mom from time to time.
The boys lift weights and have been very active in sports. Jeannie notices Jason and Allen do tire more easily than her older son. She also found puberty has an effect on their amino acid levels. Growth spurts and physical changes add stress which influences levels beyond dietary control.
Speech and language are weak areas and both had some special help in school. Dale is enrolling in college for this fall whereas Allen and Jason's doctor advises vocational training for them. They are outgoing, active, sociable boys with a supportive brother, loving, dedicated mother and caring father. We wish them well.
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