September 27, 2012

Pontocerebellar Hypoplasia

Many people ask me what exactly PCH is, so I copied this from Genetics Home Reference.

   "Pontocerebellar hypoplasia is a group of related conditions that affect the development of the brain. People with these conditions have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. A region of the brain called the pons also fails to develop properly. The pons is located at the base of the brain in an area called the brainstem, where it transmits signals from the cerebellum to the rest of the brain.
   Researchers have described six forms of pontocerebellar hypoplasia. These forms have somewhat different signs and symptoms and different genetic causes. All forms of this condition are characterized by abnormal brain development, problems with movement, delayed development, and intellectual disability. The signs and symptoms are usually present at birth, and in some cases they can be detected before birth. Many children with pontocerebellar hypoplasia live only into infancy or childhood, although some affected individuals have lived into adulthood.
   The prevalence of pontocerebellar hypoplasia is unknown, although most forms of the disorder appear to be very rare."

We are not exactly sure which form of PCH Sadie has.  She does not fit into any one category and according to her genetics Dr's they do not have the technology to be able to pin point which gene is screwed up.  Sometimes I question that because others seem to know what type their child has, but maybe their child fits more into one category.  Who knows.

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