Pontocerebella 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, 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.
Professor Baas in Amsterdam has confirmed diagnosis but we are awaiting news on which form of PCH Rudy has. Rudys consultants all feel that he seems to fit PCH2.
Major features of PCH2 include a lack of voluntary motor skills (such as grasping objects, sitting or walking), problems with swallowing (dysphagia), and an absence of speech and communication. Affected children typically develop jitteriness (generalised clonus), muscle spasms, and other movement abnormalities. Many also have impaired vision, seizures, and microcephaly that becomes more pronounced as the body grows.
The first time I ever read this not long after we received Rudys diagnosis, I couldnt believe that no one had realised before that this was what Rudy had. To me it was like I was reading about Rudy. Of course we didnt realise then just how rare this condition is.