21st Feb 2012 - Yet more challanges

Yet Another appointment!

10:30am  First appointment for the day with the Fetal Medicine Specialist.  She outlines that she had found an issue with the healthy baby but is not able to give specifics.It is in the brain and is an increase of fluid, slightly above normal, but a finding none the less.

1pm This time with the Paediatric Specialist. 
Finally it feels like we are on a plane that is talking to the control tower lining up the plane to land.  The only problem that the plane is miles and miles and miles from the tarmac.  Waiting to land is always painful.

Bronwyn (Paediatric Specialist)
She outlined just what may be wrong with the so called healthy twin and you guessed it a 1 in 24,000 problem.  Man we have the best luck in the world. 

It is called Dandy-Walker Syndrome.  The following is the information that she sent us...so I will share it with you.

Dandy-Walker Syndrome is a congenital brain malformation involving the cerebellum (an area at the back of the brain that controls movement) and the fluid-filled spaces around it. The key features of this syndrome are an enlargement of the fourth ventricle (a small channel that allows fluid to flow freely between the upper and lower areas of the brain and spinal cord), a partial or complete absence of the area of the brain between the two cerebellar hemispheres (cerebellar vermis), and cyst formation near the lowest part of the skull. An increase in the size of the fluid spaces surrounding the brain as well as an increase in pressure may also be present.

The syndrome can appear dramatically or develop unnoticed. Symptoms, which often occur in early infancy, include slow motor development and progressive enlargement of the skull. In older children, symptoms of increased intracranial pressure such as irritability and vomiting, and signs of cerebellar dysfunction such as unsteadiness, lack of muscle coordination, or jerky movements of the eyes may occur. Other symptoms include increased head circumference, bulging at the back of the skull, problems with the nerves that control the eyes, face and neck, and abnormal breathing patterns.

Dandy-Walker Syndrome is frequently associated with disorders of other areas of the central nervous system, including absence of the area made up of nerve fibers connecting the two cerebral hemispheres (corpus callosum) and malformations of the heart, face, limbs, fingers and toes.

Is there any treatment?

Treatment for individuals with Dandy-Walker Syndrome generally consists of treating the associated problems, if needed. A surgical procedure called a shunt may be required to drain off excess fluid within the brain. This will reduce intracranial pressure and help control swelling. Parents of children with Dandy-Walker Syndrome may benefit from genetic counseling if they intend to have more children.

What is the prognosis?

The effect of Dandy-Walker Syndrome on intellectual development is variable, with some children having normal cognition and others never achieving normal intellectual development even when the excess fluid buildup is treated early and correctly. Longevity depends on the severity of the syndrome and associated malformations. The presence of multiple congenital defects may shorten life span.

link: http://www.ninds.nih.gov/disorders/dandywalker/dandywalker.htm