There is no apparent cause. Here it is simply the body not being able to control it. Body temperature will fluctuate with the environment. Lack of movement in limbs also causes a lack of circulation, thereby making the limbs cold at times. If this enzyme is not there or present in very low concentration, the child is affected.
Prenatal testing is also available.
Some children will decline rapidly while others will stabilize for some time. It took several months afterwards to figure out that CJ is one who stabilized. Each parent will have a different story at this point but some things are fairly consistent. Even though these children won't get better, good health is imperative. One of the most common elements to keep in mind is respiratory care.