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Wednesday, June 29, 2011

Final Genetics Results

In February, I posted preliminary results of Gaberiella's genetic testing. The full blog is here: but here is the most important excerpt:
"I got a call today from the genetics doctor at Loma Linda. Everything is still in the very early stages of gathering some answers, but I will share a few things here. Gabriella did have a change in the gene associated with cardiomyopathy, meaning she was born with the mutation and it was not anything that happened during my pregnancy that caused her condition. That was a slight relief, because I naturally had little bits of me that wondered. The issue with this gene, which I will call the T gene because the code names won't mean anything to all of you, is that it is the type of mutation that shows in adult onset cardiomyopathy, in ones 20's or 30's. So why did Gabriella fall into heart failure at 4 years old? This take us to a second gene mutation they found, we will call the M gene. On file, this combination of mutations has not ever been recorded in a case of cardiomyopathy. Given that they have not seen this combined, there are no statistics or information available. The genetics doctor says this causes her to consider that the M gene mutation caused the T gene mutation to progress, causing Gabriella to fall into a condition she shouldn't have experienced until later in life and at a much less severe level. This M gene, in my understanding, is like an instigator that made the T gene issues bigger than they needed to be."

And right before this recent stent in the hospital, I got our follow up results!!!!! We were scheduled to go in to genetics at Loma Linda, but this was cancelled due to her hospitalization. We will have to reschedule, but the genetic counselor at the genetics lab spoke to me in detail and explained the results.

Neither Paul, PJ nor myself carry the disease causing gene linked with HCM, mentioned above as the T gene. This means it was a "spontaneous" mutation (per the geneticist) or in  my words, the way God carefully created her. Paul and PJ both carry the M gene, also called a variant gene. But without a disease causing gene for the variant gene to modify, it is a harmless gene.

This means so much. It means we do not have to worry about PJ having this same condition. It means we do not have to worry about this being a genetic condition passed through family lines to our 11 nieces and nephews or hundreds of cousins. It means that if we do choose to have more children one day, the risk of having another CHD baby is that of any other parent, 1 in 100, with only the added risk of the modifier gene being passed down.

I always say to everyone that God gave us Gabriella for a reason. Her story is to be shared as a physical reflection of His mercies and love. Regardless of the results, we would have believed this, but it makes it even more special and isolated knowing she truly is unique and was created with such intricacy, something we were blessed to be able to see through gene testing.

Romans 8:28 And we know that in all things God works for the good of those who love him, who have been called according to his purpose.
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