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I am the Momma of 8 children. Seven here on earth and 1 precious little Angel in Heaven. My children range in age from 2 months to 25 years. My 6 year old was born with a laundry list of complex medical conditions. He has Trisomy 21 (Down Syndrome), a rare brain malformation, which resulted from a mutation of the PAX-6 gene, bilateral anophthalmia, which means that he was born without any eyes, so he is totally blind. At the age of 2 1/2 months old he had to have a tracheostomy to help aid in his breathing. He is hearing impaired, with normal hearing in his left ear and has profound deafness in his right. At 3 1/2 years he had surgery to have a Mic-Key button placed in his stomach (feeding Tube), which is mainly used to give him his medications. He also has insulin dependant diabetes and wears an insulin pump, which gives him a continuous dose of insulin. Even with his many dis"abilities," including being globally developmentally delayed, he has accomplished more than anyone would have ever believed that he could. Join us in our journey living with a Dis"Abled" child....

Sunday, November 8, 2009

Timmy's MRI Report

In December 2008, when we were at NIH, they sent Timmy's MRI to the Carter Center for review. Below is the finding from the Carter Center, that we just recently obtained from NIH. I don't know what any of this really means. Timmy has a Neurology appointment on Nov. 13th and at this time, I'm hoping that the Neurologist can explain some if not all of this to us. Maybe some of you can understand what is being described here.

                  CC Neuroradiology Report

Date of Exam         Age at Exam (yr)     Date of Review
7/14/2008                         4.7                   1/23/2009

Exam Type          Exam Media          Referral Source (CC)
MRI                      DICOM CD/DVD       Other

Image Diagnosis


Not HPE. Multiple anomalies including agenesis corpus callosum, hypoplastic pons, vermis (absent inferiorly), possible Dandy-Walker. Tectum dysplastic. Hypoplastic pituitary and hypothal.
Microcephalics. Asymmetric microophthalmia. Basal ganglia abnormal, globular (but not fused). Given eye, cortical malformation, post fossa anomalies, raises question of CMD/MEB spectrum.

Detailed Findings (For Internal Research Use Only )

Pituitary                                 Hypothalamus
1 (partial)                               Dysgenetic
Caudate                                Mesencephalon
0 (seperated)                       0 (Normal)

Lentiform                             Thalmi
0 (separated)                       0 (seperated)

Hemispheric Fusion           Hemisph Fused Portions
Absent                                  Not HPE, therefore

*Anterior Falx Present         *Posterior Falx Present

Ant CC/Genu Present            Ant. Body CC Present

Post Body CC Present         Post CC/Splenium Present

- CC Comment -
Complete ACC

Cortical Malformation             Optic Chiasm
Present                                     Dysgenetic

Orbits                                       Olfactory Bulb
Olfactory Sulci

Absent                                    IHC-
                                                Present w/comm - type 1
Dorsal Cyst
Absent                                 VP Shunt


Age Appropriate             Vessels
                                         0 (Normal)

Ventricular System and Cyst Comments

Midline interhemispheric fissure vs cyst is enlarged. Thalami are separated by enlarged 3rd vent with posterior commissure connecting the two thalami. Asymmetric large temporal horns, R>L.

Interpreted By:

Patrick Barnes, M.D., Professor of Radiology-Diagnostic Radiology
Jin Hahn, M.D., Professor of Neurology and Pediatrics
Stanford School of Medicine & Lucile Packard Children’s Hospital
Stanford, California, 94305-5235
Tel: (650) 723-6841. Email

1 comment: said...

I recognize a lot of the terms from Nathan's report. The good news is that he doesn't have HPE! I think when there is fusion it makes it hard because the entire foundation of brain function is the division between the left and the right hemisphere. From what I can see Timmy seems to have missing brain tissue and parts that didn't form correctly, but at least there is separation and he has two functional hemispheres.
I think "dysgenetic" means that it didn't form properly, so the areas where he has dysgenetic is that the part is there but not properly formed. It seems that the basal ganglia, which controls movement, is completely separated but abnormally formed, which would account for some of Timmy's motor delays but also his progress!! Even with the dysgenesis and missing tissue, he seems to have a lot of functional brain!!!!
Of course this is all just conjecture based on what I heard from the doctors to whom I spoke about Nathan's report. I think this is encouraging news!!!!

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