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crystal101
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Marriella Marie Cohen was born on December 5, 2009. She is the daughter of Joshua Cohen and Trina Healey. She has two older sisters Jezabella Joyce Cohen, and Gavriella Gladys Cohen, they are going to be 3 and 2 in May and June of 2010.
When Trina was pregnant for Marriella she had a normal pregnancy and was very healthy. She was finishing up school at Plattsburgh State. She had Marriella on the 5th and graduated on the 12th of December. When she was born her parents noticed she had one eye smaller than the other, so they brought her to burlington, VT to see Dr. Molly Hastings (an opthamologist) they coul do't do a lot of testing. Although she was only a week old they did some testing on the bigger eye, they noticed that Marriella's optic nerve did not develop fullyt. So they did not know how much vision she was going to have. When Marriella was about one month old she had a seizure while her mother (Trina) was holding her. Trina
called the doctor right away and brought her into the office. The doctor then called the Nuerologist in Burlington and then sent them over to the hospital right away. She was admitted right away and was there for a few days where they proceeded to do testing. They did an EEG which came back abnormal and then they did an MRI.
The MRI showed pachygryia and agenesis of the corpus callosum. Also indicated wide spread abnormally thickened cortex with abnormality of gyration and sulcation involving both cerebral hemishperes with a polymicrogynic/pachygyric apperance. There are additional extensive heterotopic gray nodules in the subependymal, periventricular, and subcortical supratentorial whit matter, most marked and the frontal and parietal lobes, left greater than right. The septum pellucidum is present. The conus callosum is dysgenetic with only a thin rudimentary callosal body and absent splenium, genu, and rostrm. White matter volume is decreased and the lateral ventricles are prominent, likely due to central decreased white matter volume. The basal ganglia are mildly dysphormic.
At nine weeks of age Mariella's parents and doctors thought it best to bring her to Boston's Children Hosptial to get a check up there to see if they would be able to give a prognosis. Upon arrival and admittance Marriella contracted RSV "which is basically a cold for adults" although detrimental for infants especially with other medical issues. Marriella was placed on a feeding tube because she was having trouble drinking a bottle and not getting the food into her lungs. She is still being feed through a feeding tube because she is on so much medication she sleeps most of the day and because they are affraid of her aspirating. She is awake about 2 hours out of the day. Some of her brain abnormalities control her breathing so she will have respiratory issues for the rest of her life. She is on about 5 different medications and three of which are antiseizure medications. One of the antiseizure medication has a side affect that causes permant vision loss, so she has to go to boston to have an extensive eye exam done every three months. At BCH they did another eeg which documented it was a grossly abnormal electroencephalogram. When she was both awake and asleep it resembles a hypsarrhythmc pattern. At times during the recording, there are other more complex multifocal rhythms. Throughout there is gross interhemispheric and intrahemispheric discoordiation.
Gentic testing has been done to study her chromosones and that test came back normal, so there is no genetic chromosonal disorder.
Marriella has severe developmental delay and dysmorphic features. She has been diagnoised with Infantile Spasms but as for an actual syndrome or cause for her abnormalities it is unknown at this time. The Family and the Doctors are doing the best they can to figure it all out, however they may not ever have answers for Marriella and her family. (read less)
Marriella Marie Cohen was born on December 5, 2009. She is the daughter of Joshua Cohen and Trina Healey. She has two older sisters Jezabella Joyce Cohen, and Gavriella Gladys Cohen, they are going to be 3 and 2 in May and June of 2010.
When Trina was pregnant for Marriella she had a normal pregnancy and was very healthy. She was finishing up school at Plattsburgh State. She had Marriella on the 5th and graduated on the 12th of December. When she was born her parents noticed she had one eye...
When Trina was pregnant for Marriella she had a normal pregnancy and was very healthy. She was finishing up school at Plattsburgh State. She had Marriella on the 5th and graduated on the 12th of December. When she was born her parents noticed she had one eye smaller than the other, so they brought her to burlington, VT to see Dr. Molly Hastings (an opthamologist) they coul do't do a lot of testing. Although she was only a week old they did some testing on the bigger eye, they noticed that Marriella's optic nerve did not develop fullyt. So they did not know how much vision she was going to have. When Marriella was about one month old she had a seizure while her mother (Trina) was holding her. Trina
called the doctor right away and brought her into the office. The doctor then called the Nuerologist in Burlington and then sent them over to the hospital right away. She was admitted right away and was there for a few days where they proceeded to do testing. They did an EEG which came back abnormal and then they did an MRI.
The MRI showed pachygryia and agenesis of the corpus callosum. Also indicated wide spread abnormally thickened cortex with abnormality of gyration and sulcation involving both cerebral hemishperes with a polymicrogynic/pachygyric apperance. There are additional extensive heterotopic gray nodules in the subependymal, periventricular, and subcortical supratentorial whit matter, most marked and the frontal and parietal lobes, left greater than right. The septum pellucidum is present. The conus callosum is dysgenetic with only a thin rudimentary callosal body and absent splenium, genu, and rostrm. White matter volume is decreased and the lateral ventricles are prominent, likely due to central decreased white matter volume. The basal ganglia are mildly dysphormic.
At nine weeks of age Mariella's parents and doctors thought it best to bring her to Boston's Children Hosptial to get a check up there to see if they would be able to give a prognosis. Upon arrival and admittance Marriella contracted RSV "which is basically a cold for adults" although detrimental for infants especially with other medical issues. Marriella was placed on a feeding tube because she was having trouble drinking a bottle and not getting the food into her lungs. She is still being feed through a feeding tube because she is on so much medication she sleeps most of the day and because they are affraid of her aspirating. She is awake about 2 hours out of the day. Some of her brain abnormalities control her breathing so she will have respiratory issues for the rest of her life. She is on about 5 different medications and three of which are antiseizure medications. One of the antiseizure medication has a side affect that causes permant vision loss, so she has to go to boston to have an extensive eye exam done every three months. At BCH they did another eeg which documented it was a grossly abnormal electroencephalogram. When she was both awake and asleep it resembles a hypsarrhythmc pattern. At times during the recording, there are other more complex multifocal rhythms. Throughout there is gross interhemispheric and intrahemispheric discoordiation.
Gentic testing has been done to study her chromosones and that test came back normal, so there is no genetic chromosonal disorder.
Marriella has severe developmental delay and dysmorphic features. She has been diagnoised with Infantile Spasms but as for an actual syndrome or cause for her abnormalities it is unknown at this time. The Family and the Doctors are doing the best they can to figure it all out, however they may not ever have answers for Marriella and her family. (read less)
Marriella Marie Cohen was born on December 5, 2009. She is the daughter of Joshua Cohen and Trina Healey. She has two older sisters Jezabella Joyce Cohen, and Gavriella Gladys Cohen, they are going to be 3 and 2 in May and June of 2010.
When Trina was pregnant for Marriella she had a normal pregnancy and was very healthy. She was finishing up school at Plattsburgh State. She had Marriella on the 5th and graduated on the 12th of December. When she was born her parents noticed she had one eye...
