Personal Interest Begins
"I'm sorry, but your baby has a rare disease called maple syrup urine disease. I have very little information as there is only one paragraph about it in my largest medical book." Those words changed our lives. During ensuing conversations with doctors, we were challenged with these words: "You will need to know as much as we do about MSUD in order to take care of this child." Wayne and I took the challenge and have been asking questions and searching for information ever since. We also longed to compare experiences with other parents.
Those heartrending and mind-boggling words were issued on the 11th day of the life of our first child. Our son, Monte Merlyn, born March 12, 1965, was the first child in the world to be detected through a statewide screening program. Oregon, where we lived, had added MSUD to the Guthrie screening test along with PKU shortly before Monte was born. (Several individual laboratories in other states were collaborating in this field trial.)
Monte did very well under the care of Dr. Havelock Thompson and later, Dr. Neil Buist in Oregon. He remained remarkably healthy after his release from the hospital at 2 months of age. He had two short hospitalizations in his first two years, for observation only, as we were learning about this strange disease. Monte was soon above the fiftieth percentile in height, weight, and head circumference, and weighed 25 lbs. at 9 months. He sat alone at 6 months, crawled at 7, months, and walked within days of his first birthday.
The challenge of Monte's diet and care seemed to consume all my time. There were no prepared formulas or food back then and everything was mixed from basic materials. I searched for information, and bombarded our wonderful, kind, helpful doctors with many questions. Only years later did we realize how very fortunate we were to have doctors who patiently took time to teach, train and nurture us during this critical time. They were on call day and night for us.
We longed to talk to other parents of children with MSUD. We had very concerned and caring families and friends. But how could they really know or understand our daily challenges, fears and triumphs? My sister seemed insulted, or maybe threatened, when I asked so many questions about her son's development. Her son was 2 months younger than Monte, and they lived 2000 miles away. I wanted so badly to know how Monte's behavior - he was hyperactive - and development compared with a "normal" child. How was she to understand? Demands on my time increased with the birth of our son Ricky Marlyn on Sept. 21, 1966. Monte soon had a lively exploring partner because Ricky walked at 8 months. Maybe I should say ran, because he seemed determined to keep up with his big brother, who never did anything in slow motion.
Meeting Other Families
When Monte was two, we learned of a doctor at the University of Michigan Medical Center in Ann Arbor who had an amino acid analyzer and was willing to take Monte as a patient. This enabled us to move to Indiana to Wayne's home community. Again we were favored with a good, supportive doctor, Dr. Richard Allen. He had one other patient with MSUD and kindly arranged for us to meet Greg Whitfield and his family.
It was exciting to meet another family experiencing MSUD. Our enthusiasm was tempered by sadness and compassion. Greg Whitfield, 1, yr. younger than Monte, did not have the benefit of early diagnosis. (He was not diagnosed until approximately four weeks of age). Greg could not join our boys in their romping, but he had a beautiful smile and a quiet, sweet personality. (I was more thankful for Monte's hyperactivity, which often seemed to drain my energy.) We admired and were challenged by the total, self-sacrificing devotion of Greg's mother, Betty. She fed Greg every three hours around the clock, because he could not keep his food down. Charles (Chuck) and Betty displayed a deep love for their son and willingly did all they could for him.
I think our friendship with the Whitfields, and later the Paul Kurtz family from Pennsylvania, was the seed time of our desire to do whatever possible to prevent late diagnosis and its devastating consequences. Lena May Kurtz was born in Sept. '67 and was in critical condition before being diagnosed. Lena May sustained both physical and mental disabilities. The Kurtz's were the first Mennonite family in PA to have a child diagnosed with MSUD.
The Kurtz family had their second daughter with MSUD, Pauline, on Feb. 26, 1970, and a little over a week later, we had our first daughter. Five days before Monte's fifth birthday, on March 7, 1970, Shayla Myrene entered our lives. Wayne drove her the 160 miles to Ann Arbor within 24 hours of birth. Three days later we were told she also had MSUD. She was small - 6 lb. 7 oz., 17, in. long - sensitive and colicky. With no one to care for Monte at home, I did not stay in the hospital with her until she was still not doing well at 2, months. When I was able to stay with her for several days at a time, she soon stabilized, coming home at 3, months. Pauline Kurtz only required a short hospitalization and seemed to do very well.
Monte made friends easily and was very lively and outgoing. We did not send him to kindergarten, and he had to repeat the first grade because of his short attention span. From then on he made average grades, and at 8 years of age his doctor said Monte's total mental and physical development was within normal range except for a slight hand tremor. At the age of 9, he was a dependable chore boy on our farm, strong enough to carry 50 lb. feed bags. He worked and played hard and was seldom sick.
At the same time Greg Whitfield was active with leg braces and a walker and doing well in classes at a special school for the physically disabled. He developed a skin rash when he was seven which worsened until his death in the fall of '74. After Thanksgiving of that same year, Monte seemed to have a mild case of the flu. Although he didn't seem very sick and his levels were not highly elevated, he went into a coma and died Dec. 6. It was all so puzzling and we understood so little.
The Whitfields had another daughter, Amy, born on Sept. 15, 1976. Like Shayla and Pauline, she was diagnosed right after birth and, like Pauline, responded very quickly to treatment. Except for Shayla's poor start, all three girls were healthy physically with few or no hospitalizations.
Shayla walked at 12 months, dressed herself at 2 and taught herself to tie her shoes when 3 years old. We were unprepared for her difficulties when she began school. Her reading stalled at a beginning third grade level; she was hindered by a short attention span, had problems relating to others and limited reasoning ability. This slowed her learning considerably. However she was an expert at jumping rope and had only slight problems with fine motor coordination. Pauline Kurtz had some physical and mental disabilities. Amy Whitfield did well in school and developed normally. Why the differences when they each had the advantage of early diagnosis and why did Shayla have more problems than Monte? As we came to know other families, we learned that the effects of MSUD varied considerably in children. Some did very well, while others experienced mild to severe physical and mental diffiÐculties. Certainly early diagnosis and strict dietary control were critical but were other factors involved?
When Monte was four years old, I sent a questionnaire to all the parents we knew, asking many questions trying to compare observations. I wrote to a doctor in New York and one in England, who had patients with MSUD, asking them to give the questionnaire to their families. We only received replies from several of the families we knew best, and were concerned when they could not answer many of the questions. Some parents did not know their child's amino acid levels, how much leucine the child was getting, and were not aware of home testing with DNPH.
In 1979 we started a circle letter among eleven families of our acquaintance. Each family added a letter as it circled and then removed their former letter on the next round. It provided a forum for sharing and support. By the beginning of '82 it included 22 families and 2 dietitians - some from Canada. The letter was taking a whole year to make the circle.
In 1980, Jonas and Mary Reiff sent out invitations to the families in the circle letter inviting them to an informal get-together in their home in Missouri. Only Leon Kennedys from Michigan and we could be there. It was a good time of sharing and another step in developing support.
Wayne and I began thinking about getting a group of families and professionals together for a day of learning from each other. Our doctor from Michigan, Dr. Richard Allen, and his staff were enthusiastic and encouraged us. He and his staff had started an MSUD parent group meeting for his patients while Monte and Greg were still living. Dr. Allen had always encouraged parent education and support. His clinic was following seven children with MSUD at that time. He and his staff planned to drive the 3 hours to our parochial school to share their expertise at our first symposium on May 23, 1982.
Of the 22 families, 16 attended (including 15 children with MSUD) traveling from as far as California. Other doctors, dietitians, public health nurses, medical technicians and local college students, brought the number attending to almost 100 persons. It far exceeded our expectations, and we called on our local church group to help us with the promised free meals and overnight accommodations.
Dr. Janet Milne and Linda Chan, a research nutritionist, from The Hospital for Sick Children at Toronto, Ontario were the first speakers. They gave a summary of the treatment of seven children with MSUD followed at Toronto. Two children had died suddenly from brain edema and the doctors were currently treating high levels with peritoneal dialysis - a common treatment at that time for seriously ill children with MSUD.
Dr. Allen, a pediatric neurologist at the University of Michigan Medical Center, addressed the topic: what do metabolic diseases do to the brain? This was a new topic for many parents and they found it very interesting. He patiently answered many questions from the parents. (We learned we weren't the only ones with questions.)
Our dietitian, Debbie Hufstetler, discussed the goals of dietary treatment and introduced two new MSUD formulas, MSUD1 and MSUD2. Edward Schwartz, a psychologist on Dr. Allen's staff, led an informative discussion on coping with MSUD family problems. Several mothers wrote a sample of their child's daily diet on the blackboard, opening a time of lively discussion on various topics in the afternoon.
Those attending thought it was educational and helpful and proposed having another Symposium in 2 years. We also agreed to replace the circle letter with a newsletter.
This set the general pattern for most future symposiums - sponsored by parents with the help of their health care practitioners. Our first meeting would not have been possible without the enthusiastic help and cooperation of Dr. Allen and his staff. He and his staff deserve much credit for the beginning of our support group.
In the next issue of the Newsletter, I intend to continue this report on the development of our support group, Newsletters and Symposiums.
The history of our support group - Part 1