Joyce Brubacher - Editor
I received a fax from Brazil on March 7 of this year. The urgent message was from Joao Carlos de Oliveira Mello, the father of a recently diagnosed infant with MSUD. His son, one month old, was undergoing dialysis in intensive care. He read on our Web site about TPN (Total Parenteral Nutrition) for MSUD, an IV solution available without leucine, isoleucine and valine that provides total nutrition via IV. It is now the recommended treatment for quickly lowering the branched chain amino acids (BCAAs). The baby was drinking the MSUD formula from Mead Johnson, but he wanted the TPN which is more effective in reducing the high levels of the BCAAs. He wanted to know how to get it from the states as quickly as possible.
Joao and I continued communicating by email. I sent information so his doctor could contact other experienced doctors both in the States and in Brazil. I also sent the information about where to get the BCAAfree TPN. On the 8th, Joao reported the baby was doing better each day.They were praying that their baby would soon be in good health again. They had followed instructions to get the IV solution.
Two weeks later I realized I had not heard from him since the 8th. I sent an email asking how the baby was doing. His reply shocked us. The baby had died the week before. Joao said his son had died of complications from the MSUD. The MSUD TPN solution arrived too late because, as Joao says, "The customs and bureaucracy here is unbelievable."
How very, very sad.Joao and his wife were married 12 years, and this was their first child. Although the family had available resources to transfer the child to the U.S. for treatment, the health of the baby was too poor to permit transport.
I asked Joao if I could tell about their experience in order to expose the plight of families in Brazil and other countries. He mentioned some of the medical problems they faced in Brazil. Only one laboratory in the country could provide BCAA levels in a short enough time to be useful for monitoring. And this was at a university far from their city.The medical food (formula) and TPN solutions have to be imported. In their situation, these were delayed in customs, and an extra charge of 88% was applied for the TPN (which is already very expensive).
Brazil screens only for PKU as is the case in many countries. Statistics in countries such as Brazil are not reliable because many die without a correct diagnosis.
We know there are some success stories from other countries, such as the stories from the Netherlands and Israel in the Family Histories section of this issue.The sad stories, however, seem so devastating and so unnecessary.
Another father in Brazil told me the only medical center in a time of crisis is seven hours away by air for his child. A young father of an MSUD child in South Korea made contacts here in the States in order to get DNPH to monitor his daughter. Blood tests for monitoring levels in that country require so much blood his daughter gets anemic each time. He also told me of hearing of a baby in Chun An, Korea in February 1999.That child was not diagnosed until 2 months of age and died of the cerebral edema. The story in South Korea is much the same as in Brazil - a lack of metabolic centers and very little is known about MSUD.
Following is some information on the situation in the Philippines as related by an Aunt of a child with MSUD. In January 1998 her niece was hospitalized at 9 days of age with problems breathing and moving her bowels. After 5 days she was much worse and was put on a respirator. A neurologist suggested doing a newborn screening test.In the Philippines there is only one laboratory to do these tests.
The infant was diagnosed with MSUD after two weeks in intensive care. She was discharged after two months in the hospital. At two years of age her behavior is like that of a 2 month old. A fax I received in December 1999 pleaded for help for funds to buy some formula.The child was getting 2 cans free a month from Mead Johnson and that was to end at the end of the year.
It is heart-wrenching to know there are many children with MSUD dying in other countries, or who may be diagnosed soon enough to survive, but have no funding for formula or good follow-up care. This is true in Chile, where most children with MSUD are stunted in growth and development, because the families cannot afford formula.
We have received reports from doctors and families of children receiving improved treatment because of what they have learned on our Web site. We hope to improve the site in the near future and add an index.The least we can do is share knowledge with one another through our Symposiums and Web site. The Lord will add His blessings.