My husband and I were just 20 years old when we got married. My husband Paulo earned a degree in Agricultural Engineering. He was pursuing his dream of managing his family estate. I was pursuing my degree in special education. Being high school sweethearts, it seemed that our lives were complete. We grew up in privileged families in Brazil so our futures were set.
On August 16, 1980, I gave birth to a healthy boy, Gabriel, and life was so beautiful. Two weeks later, my baby showed some irritability and his appetite deteriorated. My mom was the first one to notice something strange; he was having convulsions. We rushed to a hospital. A great doctor in Rio de Janeiro, Dr. Pedro Solberg, came and diagnosed him with MSUD. A week later, we lost a part of us, our baby died.
At that time, my understanding of this disease was very limited. We knew that children with MSUD need a special diet. We had no idea about what the treatment would entail.
Months later, I found out I was pregnant again. This time I went to Boston to have an amniocentesis done by Dr. Vivian Shih. Because of my difficulty with the language at the time, I had to always ask people to talk to the doctors for me. Three months later, we found out this baby had MSUD too. That is when our lives changed completely.
Dr. Vivian Shih told us to contact Dr. Selma Snyderman in New York. Talking to Dr. Snyderman, we found out that we would have to come to New York. She was afraid that in Brazil they would not be able to administer the special formula. My husband was finishing his university studies, so my mother and I came to New York in July 1981.
Bernardo was born August 27, 1981, a beautiful, healthy boy. He stayed in Bellevue hospital for three weeks. Some moments were very hard, but he did great. Afterwards, we stayed in New York until he was three months old. Then we went back to Brazil thinking we could handle the diet ourselves. However, in my country, we were not able to have the amino acid levels tested. Therefore, we had to send blood to the United States every time. This always took long and by the time we got the results, he would be hospitalized.
The way we monitored him was with DNPH. Therefore, my doctor in Rio thought it would be a good idea to go back to New York and learn more about MSUD, especially about Bernardo's food. He was almost 11 months old, and he would just have vegetable soup. I guess that is why today he cannot stand to see soup in front of him. We went to the U.S., thinking of staying six months so we could learn everything. Then we could finally return to reside in Brazil to live our normal lives again.
The more we learned about MSUD, the more scared we became. So every year, we dreamed of the day we could go back to our home. However, year after year passed and talking to doctor Snyderman about the reality of Brazil made us stay. Bernardo was hospitalized a lot and every time was very difficult for us. We did not have the support of our family, and Paulo was always working. He was the wage-earner, so I was always alone. Seeing my son suffer so much was almost unbearable to me at times.
Years passed and Bernardo was doing great in school. I got pregnant again. This time I gave birth to a beautiful girl who we named Diane. She just stayed six days in the hospital. With this baby, I did not feel so overwhelmed since I had more experience with MSUD. Diane was a fighter since she was a tiny baby. She had some complications as an infant, but is doing great now. School was always a hassle for her, but she is very determined and always gives her best.
My kids had a lot of problems when they were young with behavior issues that we did not know were MSUD related. Now reading the e-mails from parents with young kids in the Support Group, it is so clear to me. I can see the blessing this group is to those in it. Most of my friends did not understand my children at all. The more people can be educated about any condition, the better it will be for everyone.
We have one more child, Felipe. He does not have MSUD. Felipe is a great child, but it is hard for him to understand why: when things happen to his siblings health-wise, we jump, and with him, we are more relaxed. He loves everything I cook for his brother and sister.
A lot happened to us these last few years. I must mention that during the most important and difficult times we have had, you MSUD families were a support to us. My husband has a degree in engineering, but in New York he was obligated to grab any position to support our family. So he started working as a waiter in Staten Island in a local restaurant.
After years of very hard work, in 1996, he arrived in Windows on the World, one of the most famous and beautiful places we ever saw. There Paulo found his future for the first time in the restaurant business. Soon he was promoted to captain, and then, after that, he became a Sommelier. Windows became a family to him and to us. Windows was the first place where Paulo felt comfortable working in a job that was outside of his field of study. Bernardo worked there, too, as a steward in the wine cellar. Our family enjoyed so many great times, so many celebrations. Certainly the greatest feeling is when our kids who have such a strict diet can enjoy great food made by an unbelievable chef like Michael Lomonaco. The food was made with love for them. The view from the restaurant was something "out of this world." We were there in May, 2001 with my mother and family.
The day of the attack on the World Trade Center, we did not know what was going on. Paulo always left at 7:30 a.m. to take the kids to school and then go directly to work. However, THAT TUESDAY was Felipe's birthday. So my husband stayed home to have lunch with him. The phone would not stop ringing. When I answered, I heard my friend crying hysterically, asking me where Paulo was. That is when we knew something horrible must have happened. We turned on our TV, and we could not believe it. Paulo's building was the first one to be hit.
Paulo immediately tried to call his friends, but already none of the phone lines were working. There were 80 people working at Windows that morning. The day before, the manager asked Paulo if he could come to work on the breakfast, because they needed help. And Paulo said no. He never said no before, because we always needed extra money. Our whole family, even today yet, prays at mass to thank God for saving my husband that day. My husband's friends have been coming to visit, and that is all we talk about. It's a way of dealing with all the feelings inside us. Windows will always be in our memory, as the top of the world. I would like to take this opportunity to thank you again for all the help and support the MSUD group gave to us.
I would not want to finish this without talking a little about Dr. Morton. We attended the last MSUD Symposium (2000). For us, it was the first time, and for me it was very important. For the first time, I was able to understand millions of things about this disease that before were completely incomprehensible to a layman like me. Dr. Morton was able to take away many fears that have been inside of me. I learned all the new ways of treatment. After living through so much as a mother of two children with classic MSUD, I have also come to the realization that their mental health and well-being is so critical to their physical health. Certainly, as parents we cannot treat our kids medically, but we know them better than anyone. I always promise my children that I would do anything within my power to minimize their pain, and that some day their treatment would be less overwhelming and traumatic.
We'll always be grateful for everything Dr. Snyderman and her colleague Dr. Sansaricq did for us, and we only hope that all the metabolic specialists will work together to help the children cope with their illness. Now my kids are in the care of Dr. Morton, and they are doing really well. Bernardo is now 20 and in his junior year at Fairleigh Dickinson University. He is majoring in film-making. He was an honor student last semester. Diane is 15 and finishing junior high. Felipe is 11 years old and just started the sixth grade.
In closing, I realize how blessed my children are to receive adequate treatment that gives them the opportunity to lead a normal life. I will always be grateful for all those who helped my children grow up to be two amazing and incredible people.
God Bless you All!
Love Always, Ruth Villela