I've had lots of experience with the diet for classic MSUD - I'll be 30 in March 2000 and have been on the diet from birth. I find it hard to be on a diet and eat mostly junky food and drink a synthetic medical food instead of the good tasting, high protein food others eat. It seems my restricted diet causes me health problems as I get older. I've been trying to eat more fruits and vegetables. However, I don't like some of them and am allergic to others I do like, such as grapefruit, oranges, tomatoes, and bananas.
Several years ago I felt dizzy and sick in the stomach and had headaches. It seemed I was experiencing hypoglycemia. So I started eating snacks between meals and eating before I go to bed. That seems to help. It was really scary when I momentarily lost my vision when I was driving with a bad headache. I now take an Aleve as soon as I feel a headache coming on, and be sure I always take food and drink along when I drive. That really seems to help. I get headaches when my levels are elevated.
I really didn't understand my diet until I was a teenager. It wasn't easy to learn to take care of my diet myself. I learned to look up foods when I didn't know the protein value, and now it is a way of life.
When I am offered foods I can't eat, I say, "I can't eat it or I will end up in the hospital." If they ask more questions, I tell them I am on a special low protein diet. I try not to mention MSUD because it is too involved to explain. I am mostly with people I grew up with or who knew me from childhood. That makes it easier, and I don't have to explain so much.
I was teased in school and I could never take teasing, even good-natured teasing from my Dad and brothers, except from Monte, who was my good friend. I got disgusted with the teasing at school and took the book, Please don't tease me... to school, and every classroom teacher read it to their students. This helped stop the teasing. I recommend this book [by Jane M. Madsen with Diane Brockoras] for all school children and others.
I can hardly wait for the gene repair therapy. Then I can drink my first big gulp of milk and start eating other high protein foods. That would be like heaven to me.
Shayla has been wanting to share her story in the Newsletter, but "Mom" never seemed to have time to help her. So this time I promised to get it down on paper for her - especially when October came and there was still nothing for the SHARING or FAMILY HISTORY sections of the Newsletter. I was feeling a little desperate.
Shayla is our daughter (Wayne and Joyce Brubacher, the editor) from Goshen, Indiana. Shayla's oldest brother, Monte, was diagnosed at 12 days of age in March 1965 with classic MSUD (now known as Mennonite classic). So when Shayla was born on March 7, 1970, she was taken to the hospital in Ann Arbor, Michigan the next day to be tested. She tested positive for MSUD. Our second son, born in 1966, and a third son, a year younger than Shayla are both unaffected.
Shayla was given Enfamil for12 hours to be sure the levels were high enough to show on the test. She was started on the MSUD formula at 55 hrs. of age with a leucine level of 9 mg/dl.
She soon developed a very bad, painful rash on her bottom from an isoleucine deficiency. (It was not recognized as such at that time.) Since there was no one experienced with Monte's diet, I was not comfortable leaving him at home for any length of time to stay with Shayla in the hospital. In retrospect, Shayla was the one who needed me most.
Since Shayla was vomiting her feedings and her levels were not stabilized at three months, I stayed at the hospital and cared for her several days at that time. I soon realized she was sensitive to the way different nurses fed her. One nurse used a nipple with the hole cut so big that Shayla would gulp the formula and soon chuck it back up. Some nurses warmed her formula and others gave it cold.
The miserable rash on her bottom finally healed, and she began to stabilize after the doctor added isoleucine and valine to her formula. With more constant care, she was ready to come home at almost 15 weeks of age. She seemed so small and frail. She weighed only 6 lbs. 7 oz. and measured 17, in. at birth. She weighed around 9 lbs. when released from the hospital.
Complete formulas were not available in those days. Shayla's formula, however, was easier to mix than Monte's infant formula had been. I had to totally mix his concoction from scratch. Her formula was a combination of Products Z618 and Z619 from Mead Johnson, amino acids, strained lamb baby food, valine (for the first week only), Mullsoy and water. If I remember correctly, Product Z618 mainly contained sources of calories and Z619 was a vitamin and mineral mixture. It was not an attractive formula. It didn't smell or taste good and was not easy to get through a nipple. However, Shayla thrived on this ickylooking formula.
Monte grew to be a strong and healthy nine year old. He functioned normally and worked and played with gusto. He died suddenly from cerebral edema during a light case of flu in Dec. '74. Shayla was four and one half at the time he died.
When Shayla started with flu symptoms the following February, we panicked and took her to the hospital for her first hospitalization since her initial stay. It was stressful for her to travel three hours and wait several hours to get into a room before finally getting started on IVs. This made her much sicker than being at home. I was too sick with the flu myself to stay with her. A nurse mistakenly gave her a big, normal breakfast the fifth day, insisting she eat it, and her levels soared to 28 mg/dl. We were asked to come get her. It took me three weeks at home to get her levels down.
Shayla was hospitalized again at nine when she seemed to hallucinate with a mild case of the flu. It was quite stressful for her to be in the hospital, and we are very thankful she has not needed to be hospitalized since. (Those were her only two hospitalizations other than at birth.)
Shayla met developmental milestones the first several years - sat at 6 months and walked at 12 months. But school was difficult for her. She attended a private Christian school just across the road from our house. I worked closely with her teachers, and we eventually put her on a self-paced course which was mostly done at home after school hours. She attended school for 10 years. Testing at that time showed she was working at a very high frustration level, and we were advised to keep her home and teach her basic skills.
Although tests indicated she had reached her academic potential, she has increased her IQ it seems by sheer determination. She takes care of her own diet, cooking all kinds of concoctions with her low protein foods. She has been driving since 1993. This gives her some of the independence she longs for so much.
As an adult, Shayla's leucine levels fluctuated from 7 to 9 mg/dl, until three years ago when she started adding isoleucine and valine supplements to her formula. This made it much easier for her to keep her leucine levels in the 3 to 6 mg/dl range and curb her big appetite. She is better satisfied and has lost some weight.
The biggest change since adding isoleucine and valine is in her ability to reason and think more clearly. She is also more stable emotionally and has fewer headaches. Shayla has resumed her schooling with a home school course and her reading is improving.
Shayla is easily distracted. She tends to throw herself into her activities and then crashes. It is difficult for her to organize tasks or work in a bustling environment. This makes it difficult to hold a job. She now works part-time for a friend of the family doing housework and odd jobs. She is a very thorough in her work and her employer really appreciates her.
It is never boring with Shayla around. She has broken a leg and two bones in her wrist and been hit by a car while riding a bicycle. Always pushing her limits, she is a very determined young lady.
Shayla is my much appreciated helper around the house. She does most of the housework when I am busy with MSUD matters. She loves to travel and enjoys her job - and earning spending money. She likes to refinish antique furniture and worked on several projects this fall. She is our challenge and our blessing.