First Presenter: Loreto Ilabaca, Chile
Loreto is Chilean and speaks Spanish. Although concerned about her English pronunciations, she did well when she gave her talk. She sent the following article for the Newsletter giving a little more detail of her experiences. It was written in Spanish and translated. Several health care providers translate our Newsletter for their Spanish-speaking families. I can send copies of this article in Spanish on request.
In her talk she mentioned there were six cases of classical MSUD and four intermittent (including her two children) in Chile. One with intermittent MSUD died last year. It is very hard for these families because of the lack of good hospitals and doctors. Special foods and formulas need to be imported and most families cannot afford the cost. Without the formula, the children eat only one meal a day and that is only vegetables. These children have many physical problems.
I am from Chile and the mother of two children with intermittent MSUD. Claudia is 14 and Christian is 12. The two children were born normal. When they were around two weeks old, they were diagnosed with severe Gastroesophageal Reflux. The doctors tried to correct this by using a postural treatment - sleeping with their cradle at a 40-degree incline. Because of the reflux, the children were always vomiting so much that I became accustomed to it, and it didn't bother me very much.
In December 1983 Claudia had her first vomiting crisis at 18 months. She was very sick. They did much testing, but the results didn't show anything strange. The doctors thought it was just a virus. When the vomiting didn't stop, they had to pump her stomach. When she started to recuperate, they hydrated her by giving her a spoonful of water every five minutes. This crisis lasted about four days.
The following year on the same day in December, Claudia had her second crisis and Christian, his first crisis. He was 10 months old. They gave new tests to the two children, but the results didn't show anything strange. The doctors told me they both had a virus. They hydrated them the same way as before.
The next December the children had vomiting crises again, repeating the experience of the previous year. Again we didn't find the cause of the crises.
Claudia didn't repeat these episodes until 1992 when she was dehydrated, and they had to give her serum. She has more enzyme activity than many MSUD, and so does not have as many problems. She learned she should be very careful with her diet when she is sick.
Christian began to repeat these episodes. Some of them were caused by a viral sickness, during which he had to be hospitalized and given glucose serum, because he was totally dehydrated. This made the pediatrician suspicious of Ryes Syndrome and asked if Christian would undergo a series of tests. The results were negative. Christian repeated these crises for some months after he had these tests done. The pediatrician didn't understand what was happening, because he couldn't find the cause for these episodes. Many times they weren't accompanied by any contaminating illness and the results were always negative.
In February 1992 when Christian was eight years old, after various episodes in a short time, he had a very bad crisis with major head and abdominal pains. He was dehydrated and they had to give him serum for many days. The treatment didn't have any effect, and each day he got worse. They took a Cat Scan because of his bad headaches, and the results were normal.
The pediatrician suspected that he had a metabolic illness because of the characteristics of the crisis. He asked if he could give more specific tests. They sent Christian to a specialist for metabolic diseases. She took another series of tests and diagnosed MSUD. They sent samples of Christian's blood to a Biochemical Genetics Laboratory at the University of Colorado Health Sciences Center in Denver. Twenty-one days later we received the results from the U.S.A. confirming the diagnosis - MSUD Variant, R10 E3 deficiency.
At this time, Christian's life and ours changed drastically. Christian, who consumed a great quantity of protein in his daily diet, was now put on a low protein diet. For eight years he had lived as a normal child and now had to learn to eat differently - things that he didn't like; and he didn't like vegetables. For Christian, this has been very difficult. He is a very brave child and makes great efforts to try to accept what has happened. However, many times he gets depressed, because he feels different and can't live the life that he lived before.
In Chile there is only one center where they can diagnose this illness. Every time we went there, we were very depressed and became very sad. When blood samples were sent to the U.S.A., many times the results didn't return for two months. I was thinking that this is not useful. One day I decided not to take him there anymore. I thought I could control his diet, and that everything was going to be OK. I would be eliminating a suffering experience for Christian. I spoke with the pediatrician and he told me it was my decision.
Our life changed a lot during that period. I think Christian felt happier not having to go to that place, and that comforted me. During those months he had various crises, but they were very small and didn't last long. With the help of the pediatrician they went away quickly. In November 1995, Christian became very sick, vomited a lot, had bad headaches and abdominal pains that led to dehydration. They had to give him serum at home.
This crisis lasted five days, but he began to recover. He was well for four days, and then had another crisis worse than the first. He was very sick, continuing to vomit a lot, was dehydrated again and had to be hospitalized. They gave him serum and we had to wait. I didn't know what to do when I saw him. They told me I had to wait. I felt very alone and I didn't understand and I didn't know if what we were doing was right. I didn't have contact with other mothers, and I felt terribly guilty for not having been more in control.
They had to take more tests and again the specialist told me that Christian had high levels of leucine, isoleucine and valine. They didn't want him to leave the hospital because the diet that had worked before wouldn't work anymore; he was growing and his metabolism was changing. Fortunately, he recovered. When we left the clinic, he began a new, stricter diet than before. He began to take Ketonex-2. He hated it, and we fought a lot to get him to take it. They also gave him carnitine and thiamine.
I was feeling very badly one day when speaking with the pediatrician. Then he told me that he had found the name of this association on a computer program referring to this strange disease. He put me in contact, because he thought it was the only place where I could find answers to my questions - with parents who felt as I did. I didn't doubt him and I called Peter Shaffer. I told him my history and he told me that he would send me information.
In February of this year I received my first Newsletter. I felt so happy reading the experiences of other parents who felt and lived like me. I wrote immediately about attending the Symposium. In May, I spoke with Sandy Bulcher, and she asked me if I would tell my experiences. I accepted immediately. I was a little frightened because of my English, and I worried that no one could understand me, but I wanted you all to know my children and our history.
I also wanted to tell you that it was a marvelous experience, to be able to share with you my fears, sorrows, doubts, and to see the pretty children. For the first time in these difficult four years, I could speak with you and you would understand me, and not look at me as if I were from another planet.
I want to thank Dave and Sandy Bulcher for having me at their home and making me feel as if it were my home; also Wayne and Joyce Brubacher, Phoebe Saunders, Brenda Wenger, Tanya and everyone else who helped me. Unfortunately I can't remember everyone's name. Thanks to all of you for giving me the opportunity to meet you. I feel that in two days I learned more than I was able to learn in four years.
I am a very overprotective mother. When I left Chile I was a little worried because I didn't know what would happen in my absence. When I returned, I was very happy and felt at peace with myself. I could feel assured that everything was all right, and I could do things that only mothers can do. My children understood this. I want to say thank you to Joseph Balinsky, because very recently he told me that the best gift I could give my children was to teach them to be independent.