Drew's Diagnosis...So Far!

This picture shows the enzyme process involved when we eat certain proteins. This metabolic process is governed by our genes. Several genes need to function correctly for this entire process to occur. Drew has a metabolic disorder within this cycle. Somewhere in this cycle, there is a gene that is mutated and stopping the cycle from being complete. What that means is that Drew has a high level of Homocysteine and very low levels of Methionine (both essential enzymes). There is a mutated gene somewhere on the left side of this cycle that is not functioning correctly. This causes a toxic acidosis in his body and causes the symptoms that has put him in the hospital; seizures, apnea and cerebral atrophy. Even though we have an immense amount of information regarding this metabolic disorder, there is so much more to determine. The doctors are trying to locate which mutated gene is causing his cobalamin defect. There are currently ten known mutations, however Drew doesn't exactly fit into any of them so far. 

The worst and most difficult part of this disorder is that if it is detected before or shortly after birth, the outcome is usually incredible, with slight modifications in diet and medication, children can lead very normal lives. However, without knowing that both parents are recessive carriers of the same mutated gene, you don't know until damage is already done. New York State tests for 50 common metabolic disorders...not including this one. This brings about a lot of anger because this disorder is TREATABLE!!! Grrrrr....