 Name: Marina
Teixeira Vaisman
DOB: 02/18/2005
Did Mother Have HELLP: Yes
Gestational Age: 37 weeks
Date of Diagnosis: 2/28/2005
Medical Presentation When Diagnosed: Cardiomyopathy and lethargic.
Results of Molecular Analysis: Test still pending.
Location: Rio de Janeiro, Brazil
Marina was born on February 18th, 2005 at 37 weeks gestational age. Marina
had difficulty breathing when she was born and stayed in the NICU. Marina
has Down Syndrome and cardiomyopathy. While in the NICU she developed an infection
and was also diagnosed with an enlarged liver and lethargy. The doctor's worked
hard to find out what was going on with Marina.
 They knew that
Ana, Marina's mother, had a strange tiring during the pregnancy. On January
7th Ana's fatigue increased a lot. In February Ana began to lose weight.
Ana's obstetrician ran several blood tests. He identified that the liver was
being attacked. She was directed to a hematologist who verified that Ana's
liver was weakened. Ana's doctor advised her to undergo an emergency cesarean.
Marina's doctor concluded that she probably was having the same thing that her mother
had.
Clinical studies pointed to an enzymatic deficiency which caused the overload in
the mother's liver. When Marina was 10 days old, they found out the reason
for her state has LCHAD.
 Marina uses
special formula named Portagen, found only in the United States. Marina stayed
for 3 months at the hospital and then came home.
After 4 weeks, she got a general infection and stayed 3 more months in the ICU.
During this period she was operated on to solve a problem with pressure on her lung.
Today, she is at home in a very nice condition. Next December she will probably
undergo a heart operation. We are waiting for the results of the enzymatic
exams that are being run in the Netherlands. A small amount of skin was required
for this test.
Her diet consists mostly of Portagen through a g-tube and some fruits and vegetables.
Her weight is now 7.5 KG (16.5 lbs)
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