CPT1

So I got a call from a doctor at the McMaster University Hospital. Ryan had received a positive test result from the Ontario newborn screening. The blood test that they take from the newborn's heel, in the hospital. He had screened in the positive for a Genetic condition called CPT1. Carnitine Palmitoyl Transferase 1 Deficiency. Immediately after finding out I of course googled it. I found this website.

It is one type of fatty acid oxidation disorder. People with CPT-1A deficiency have problems breaking down fat into energy for the body.

Energy from fat keeps us going whenever our bodies run low of their main source of energy, a type of sugar called glucose. Our bodies rely on fat when we don't eat for a stretch of time - like when we miss a meal or when we sleep.

When the CPT-1A normal enzyme is missing or not working well, the body cannot use fat for energy, and must rely solely on glucose. Although glucose is a good source of energy, there is a limited amount available. Once the glucose has been used up, the body tries to use fat without success. This leads to low blood sugar, called hypoglycemia, and to the build up of harmful substances in the blood

Basically if Ryan has this disorder and gets sick, or is unable to get his nutritional needs met in some way (nausea, diarrhea, etc...) he risks having a metabolic crisis, which if serious could cause a coma or brain damage.

So I brought him to McMaster, to get bloodwork and urine samples, for the testing. We should know in the next week or so. Until then I was told to treat him as if he has the disorder. We were given a Jump to the front of the line letter. It states that if Ryan is sick we need to take him to emergency and skip triage, in order to be treated, and started on a glucose IV immediately. If the tests are inconclusive we will follow up with a skin test.

Waiting Sucks.