We recently just had Reagan's MRI read by Dr. Hahn at the Carter Center at Stanford University who specializes in Holoprosencephaly, and his diagnosis is that she does NOT have Holoprosencephaly, but rather: Absent Septum Pellucidum with ventriculomegaly and retrocerebellar cyst.
Jino started to research other possibilities to try and get a proper diagnosis for Reagan. He came across a study by Dr. James Barkovich at UCSF and asked if he could look at Reagan’s MRI to give a more detailed diagnosis. He gladly looked at her MRI and here is his response:
“Dear Mr. Martinez,
I have reviewed your daughter's MRI. She certainly does not have holoprosencephaly or septo-optic dysplasia. She has several brain abnormalities, including a condition known as polymicrogyria, usually caused by brain injury long before birth, but sometimes genetic, in which the cerebral cortex does not form properly. She has much too little white matter, the part of the brain that connects the nerve cells; this includes a very small or absent corpus callosum (the structure that connects the two halves of the brain). Finally, she has a very small cerebellar vermis and small brain stem. This type of injury may be the result of something that happened fairly early in development, long before birth, or it may be genetic. I would suggest that you contact a specialist in genetic diseases of the brain, such as Dr. William Dobyns at the University of Washington or Dr. Elliott Sherr here at UC San Francisco. They can do genetic tests and give you an idea of Reagan's prognosis and the likelihood that future children will be affected.
Sincerely yours,
A. James Barkovich
Professor of Radiology, Neurology,
Pediatrics, and Neurosurgery
University of California, San FranciscoSO with that being said...Reagan now has a rare brain condition known as Polymicrogyria (PMG) along with other brain abnormalities. Please pray for us and Reagan and the journey that lies ahead and pray for answers, guidance and direction. Thank you!
Here's some helpful sites to read about PMG:
Shannon's story
what is PMG?
Presley's story
PMG dad
1 comment:
very informative. i will be praying for sweet reagan! and interested in hearing about her prognosis. she's got such a loving and supportive family, regardless of her prognosis, i guarantee she will surprise you and excel beyond! is she already in therapies? i do pediatric physical therapies and it's amazing how well even the smallest babies with various diagnoses respond :)
Post a Comment