On July 17, 1998, Laura Brito Medeiros, our first daughter, was born. For us, a present, an expectation! Delivered by Caesarean childbirth, she weighed 3,780 kg [8.3 lb.] and measured 49 cm [19 in.] in length and seemed healthy. The first days of her life, she was fed mother's milk and baby formula (NAN 1).

About the fifth day, Laura started to exhibit a different behavior, characterized by irritability, vomits, inquietude, lack of appetite and sleepiness. So we sought a pediatrician in our city - Caic - /RN. This doctor suspected a urinary infection because of finding a strange scent in the urine. The result of the urinary exam was negative for infection. Laura's clinical picture became worse every minute.

At another doctor's opinion, we decided to take Laura to another city, Natal/RN. There the doctors have a larger patient load [more experience], more medical resources, and a hospital of superior quality. During this trip, approximately 300 kilometers, Laura presented convulsions. Upon arrival, she was admitted to UTI [ICU] showing sharp dispnéia, then she stopped breathing. Our daughter was maintained on a respirator for four days.

The medical team requested many exams, besides a screening test. When we received the results of the exams, Laura was already fifteen days old and had spent nine of those in a coma. The result of the chromatography of amino acids was the following: L-leucine: 2.083,5 µmol/L [27.3 mg/dl]; L-isoleucine 107,4 µmol/L [1.4 mg/dl]; and L-valine: 584,3 µmol/L [6.8 mg/dl] indicating that Laura had MSUD.

For us and for the medical team, it was a challenge; none of us had experience working with MSUD. One of the doctors on the team remembered that six months ago, another child (Jo V'tor) had the same diagnosis. We contacted the Fernandes family, and by phone learned about the geneticist, Dr. Ricardo Pires, who guided the medical team.The first procedure was completing peritoneal dialysis for 48 hours followed by glicoinsulinoterapia [insulin therapy]. We had access to formula - MSUD diet powder (Mead Johnson). We knew practically nothing about the disease, nor how to work with it.

At forty days of age, Laura left the hospital, but she vomited daily. We sought a gastric doctor who diagnosed hiatal hernia and began treatment with cisapride. During her first year of life, Laura had been hospitalized several times.

We still did not know how to work with the disease. It was through the Internet that we began to have access to information, not so much with Brazilians, but with foreigners. We began to learn about the disease through them.

We were always worried about Laura's health. Initially, following a neuro-pediatrician's instructions, Laura began a program of therapy. It consisted of strenuous stimulation for the invigoration of muscle tone, correct posture of the head, coordination for grasping and holding objects, and motor skill development.

When Laura reached eighteen months, she began to walk, achieving her freedom. Her speech began to be expressive by two years and four months. Today, Laura, is two years and eight months and attending [nursery] school. She has been continuing reinforcement therapy since she was twelve months old.

Laura is an extremely affectionate child. And every day we have more certainty that she will have a better future, if God wants.

Our participation in the MSUD Symposium 2000 was very profitable. We learned a lot about the disease and how to work with it. The support that the MSUD Family Support Group has been giving, especially the Brubacher family, is something we don't know how to say thanks for.

Another important point of Symposium for us was making acquaintance personally with Dr. Morton and his teachings. It was a great learning time for us. We intend to attend the next events. And now we receive daily news through the MSUD eGroup. All this has been very gratifying.

A hug for all our MSUD friends from Laura, Aninha and Giovanni.


The MSUD Family Support Group is currently funding several research projects and we are proactively looking for researchers interested in developing new treatments or finding a cure for MSUD. Significant funding is necessary if we are to accomplish this goal.
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