Our favorite phlebotomist, Brandon, at Primary Children's Hospital in Riverton! William adores him ~ Will barely squealed when Brandon inserted the needle for his blood draw. See how intently William is watching what is going on?
The day arrived to see our metabolic specialist again. It had been over three months since we had last visited with Dr. Warnock. We had never gone that long between appointments, and I was a little bit nervous about William's methylmalonic acid levels. He wasn't acting any differently, but I had always had the security of knowing what his levels were every month until now. The last time that we visited Dr. Warnock, she did a skin biopsy on William and sent the sample away to a lab in Canada for testing. At this appointment, we would get the results!
The results...inconclusive! My first thought was, "Of course it is inconclusive. We have wanted answers, and the results were inconclusive!" Dr. Warnock reassured us that it was actually good news because the testing revealed there is definitely a problem with William's cobalamin production. We have been treating his condition correctly.
So, now we move forward on a grand adventure. The research lab that grew out William's cells now wants to do further research on his genes. Do you remember the Human Genome Project? It cost millions of dollars over ten years to map out, or sequence, a human's genes. Over the years, it has become less costly and more time efficient to sequence a human's genes, so the research company wants to map out William's genes. They want to see if they can locate the flaw that is causing his MMA. It does not cost us a penny. That is not all...they want to sequence all five of our kids' genes! That means that our children will be one in a hundred...actually, five in a hundred. Less than one hundred people in the world have ever had their genes mapped. So, William does not need to give blood and urine samples because the lab already has his tissue. Ethan and Sarah will give their samples at Riverton's Primary Children's Hospital. Miranda will go to the lab in Logan. Taylor will give samples when he arrives home in November. Crazy, huh? The research lab will know everything about our children ~ what they will be predisposed to in the future. We will only receive the results for those things that directly relate to William's condition. The scientists want to see if any of our other children have the same condition as William but have not exhibited any symptoms to this point. So, our five children will be donating themselves to science. Miranda and Ethan are thrilled!
