Marcel's Story
From Costa Rica to the Nation’s Capital: Doctors Treat a Rare Genetic Disorder
Marcel Lacle was diagnosed with a rare urea cycle disorder, ornithine transcarbamylase deficiency (OTCD). The urea cycle is the biochemical pathway in the liver that permits the body to remove ammonia leftover from metabolizing proteins into amino acids to build muscle and other vital products for growth and development. Patients with a disorder like OTCD are unable to process these potentially toxic levels of ammonia out of the system effectively. OTCD is an X-linked disorder, such as hemophilia and muscular dystrophy, meaning that mothers are carriers, and can pass the defect on to their children, especially to their sons. Paola Lacle went to her obstetrician in Costa Rica for a routine prenatal visit where she learned she was a carrier, which meant she had a 50 percent chance of passing the disorder to Marcel. If her son was affected, without treatment, OTCD would be fatal to him in his first week of life.
Marcel had an 80 percent chance of successful treatment because he received the necessary medication within hours of his birth
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After discovering that the local children’s hospital in Costa Rica did not have a genetic team to treat OTCD, Paola and her husband, Mario, knew exactly where to turn to; he contacted Mark L. Batshaw, MD, executive vice president and chief academic officer at Children’s National Medical Center. More than twenty-five years ago, Dr. Batshaw successfully treated Paola’s sister for OTCD using a drug that was developed by him and a colleague. Children’s National is recognized as the world’s leader in urea cycle disorder research. Through the National Institutes of Health-funded Urea Cycle Disorders Consortium, directed by Dr. Batshaw and Mendel Tuchman, MD, Children’s National sees one out of every five urea cycle disorder patients in the
Marcel had an 80 percent chance of successful treatment because he received the necessary medication within hours of his birth. However, he still faces challenges. Thanks to the expertise of Drs. Batshaw, Tuchman, and Lichter, as well as the rest of the doctors at Children’s National, and with the support of his loving family, baby Marcel has the chance to live a long and healthy life.
To read more about Marcel visit Bear Essentials Summer 2008.
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