Info about PCH

So after introducing our story, I figured I would back up a little bit and provide some more in depth information about  PCH. The information below is what the medical community has published. As parents of children with PCH (there is an absolutely phenomenal facebook group for parents of children with PCH--it has been my lifeline), we take much of it with a grain of salt. We know our kids can do more. They amaze us every day. But this is what we all read when we first received the diagnosis. It's horrifying. Fortunately, there is a group working on creating a booklet to give to new parents that will share the stories of many children with PCH, so parents can see the positive side as well. Unfortunately, it's all gloom and doom in the medical community:

Pontocerebellar hypoplasia type 2 (PCH type 2)

http://www.ncbi.nlm.nih.gov/books/NBK9673/ for more in depth medical information.

A general overview: 

In PCH type 2 there is progressive microcephaly from birth combined with extrapyramidal dyskinesia. There is no motor or mental development. Severe chorea occurs, and epilepsy is frequent, while signs of spinal anterior horn involvement are absent in PCH type 2. The main feature distinguishing PCH type 1 from PCH type 2 is that anterior horn cells are spared in PCH type 2.

Characteristically, pregnancy is normal. However, at birth, the newborn may show breathing problems or respiratory failure that may require mechanical ventilatory support. Some may have sucking or feeding problems. Most patients with PCH type 2 are born with normal size head. Some already have microcephaly at birth. All affected children have worsening or progression of the microcephaly during infancy. Other features of dysmorphisms are absent. They have impaired mental and motor development. They have abnormal movements termed extrapyramidal movement disorder. All affected children develop marked extrapyramidal dyskinetic movement disorder with predominance of dystonia. Jerky movements and almost continuous dystonic choreoathetotic movements may be seen. These movement abnormalities are usually noticed during the neonatal period of these children.

They have severe to profound mental retardation. No patient with the classical PCH type 2 ever achieved the milestones of sitting, crawling, standing, walking, talking, or developed meaningful social contact skills. Visual fixation is persistently poor and only about one third of these patients are able to fixate and follow. Seizure disorder is frequent. Approximately half of these children may have seizures. A minority may also have hypotonia or hypertonia even as early as the newborn period. Minority may show spasticity.

They are severely handicapped with no voluntary motor function. The children have severe cognitive and language impairment, and with no verbal or non-verbal communication.

There is a near total loss of Purkinje fibers in the cerebellar hemisphere and an undetectable dentate nucleus. Neuronal loss is marked in the basal ganglia and thalamus without any anterior horn cell involvement when autopsy is done. The vermis is also relatively spared. These features are similar to those seen in PCH type 5 and suggest a continuum of pathology between both PCH type 2 and PCH type 5.

The clinical findings, the severity of movement disorder and the developmental delay do not correlate with the degree of pontine or cerebellar hypoplasia on MRI. It is possible that there is a continuum of severe neonatal and infantile types rather than clearly defined groups.

Death during early childhood has been attributed to respiratory and infectious complications.