We got news this week that the second set of genetic tests were completed. This was the test that they did on the dried blood sample from Drew when he was born. They were searching for what genes he inherited from Robert and I.
It turns out that he inherited both the mutated gene that causes Cblm G and Cblm F disorders. This is something that has literally NEVER been discovered before. What caused his disorder was two mutations located on two separate genes that are involved in the same metabolic cycle. Our genetic counceler and the genetic testing researchers are currently rushing to get this news published in the medical community because it will drastically change how metabolic disorders are looked at and tested for.
The sad part about this testing is that we will never really know what would happen if we were to have another child with the same disorder combination as Drew. Because no one has ever seen this before, it is unclear if we began treatment early on, whether that would make a difference in the prognosis of their life. I was secretly hoping that they were going to discover that he had inherited two sets from either Rob or myself (the same way a child gets Down's Syndrome). That would mean our chances of having another child with Drew's disorder would be less than one percent.
Now that the genetic testing is over and we have the information we have been searching for I feel like I am back at square one with the grief process. It has been a very difficult couple of days. The most difficult part was telling Robert. I could tell he was instantly heart broken. The big question that now sits in our minds constantly is whether we will have any more children. Tough pill to swallow.
