Thursday, September 15, 2011

What is pontocerebellar hypoplasia type 2?

PCH2 is a very rare autosomal recessive genetic disorder. It involves mainly the pons (brainstem) and cerebellum. Type 2 is characterized by a movement disorder, in which there are almost constant, uncontrollable movements of the body.
According to medical articles, there is no motor or mental development. However, if you know a PCH2 child personally you will know that they do achieve milestones. My daughter has a sense of humor, can communicate with facial expressions and sounds and has some purposeful movements. She is also gaining head control, can roll over and is doing quite well in physical therapy. It is true that no PCH2 patient has reached the milestones of sitting unsupported, standing, walking or talking. (Some can say a few words, but I am talking about communicating through conversation.)
Seizures are very common. Most children have g-tubes for nutrition.  Many have problems with sleep apnea, or breathing in general. It is very hard for these kids to clear their upper airway. Respiratory illness is especially hard on them.
PCH2 children are sweet, loveable, and after the first year of life tend to be very happy most of the time. But you will read in our story that the first year of Maddi's life was horrific.

The purple area is the affected area in PCH.

Now that I have given my interpretation of what PCH type 2 is, I will start at the beginning of Maddi's life.