Henrique Bramante is almost 2 years old. This is his story, written by his father, Luis, and about MSUD in Brazil.
I am from Sorocaba, a city with 700.000 inhabitants in the State of São Paulo, in Brazil. Our son, Henrique, who will be 2 years old in March, has classic MSUD. The big problem in Brazil starts with the newborn screening. Not all the newborns are screened in Brazil, and those that are born in public hospitals who are screened are only tested for PKU and 2 other inherited metabolic disorders. So you only find out if your child has MSUD if you have financial situation to pay over $100 for a more detailed screening. That’s why we have only about 12 MSUD children alive in Brazil that we know of, and only 4 of them are doing okay and have no brain damage. Thank God Henrique is one of them. We found out he had MSUD when he was 15 days old. The screening was done when he was in the Intensive Care Unit.
Henrique had been in crisis when he got sick. We traveled to Ohio for the MSUD Symposium in June. We arrived on Sunday and he was hospitalized on Monday because he got the flu. He stayed in the Children's Hospital for 10 days - in other words the whole period we were in the US! He hasn’t had any other serious crisis but we always take special care when he gets sick.
We get some support form the CREIM (Centro de Referência em Erros Inatos do Metabolismo - http://www.unifesp.br/centros/creim/ ) from the Federal University of the State of São Paulo (UNIFESP). They have a group of doctors specialized in inherited metabolic disorders with geneticists and a dietician that takes care of Henrique. We go there every other month. Based upon his exams the dietician prescribes his diet.
There’s only one brand of MSUD formula in Brazil - MSUD Support from Milupa - and it is imported. A can of this formula lasts a week and costs over $300. We are supposed to get 3 cans a month from the Government but these last 3 months they haven’t bought the formulas, saying that they are out of money! We have had to hire a lawyer in order to solve this problem. Unfortunately we depend on the Government because we can’t afford to buy the formulas.
There hasn’t been a liver transplant in MSUD patients yet. We plan to go to a doctor next year to talk about the surgery and check if there’s a possibility of doing it in Brazil. We also have some support from the "Kangaroo Institute"(Instituto Canguru - http://www.institutocanguru.org.br/ ). They specialize in inherited metabolic disorders and helped us out with information about MSUD. They also showed us the way to get the formulas from the Government.
We are now trying to gather the other MSUD families in Brazil in order to exchange information just like we do on the MSUD Family Support Group.
You can learn more about Henrique at his website: www.henriquebramante.cjb.net
MSUD in Brazil - Henrique Bramante
- Written by Luis Bramante
- Category: Volume 24-1