Clinic: Tuesday April 14, 2015

Jacob had his first clinic visit today. Here are the highlights.

We got to see our favorite dietician for the first time in nearly two months. Erika adjusted his formula recipe again to help him keep up his impressive growth. Jacob weighs over 13 pounds now!

Justin and I also met with a genetic counselor to talk about Jacob’s particular mutations and their implications for our future family planning. With a natural conception, we would have a 25% chance of having a child with citrullinemia, a 50% chance of having a child who is a carrier, and a 25% chance of having a child who is completely unaffected. When we are ready to talk about another baby, it will be important for us to be armed with our genetic information so that we can conduct prenatal screening. There is an option to use IVF to eliminate the possibility of having an affected child by implanting only unaffected embryos. This is a great option for some families, but I personally couldn’t do it. Discarding the embryos with citrullinemia would feel like throwing away potential Jacobs.  However, I would want to have prenatal testing done so that, if necessary, we could begin to treat right away rather than wait for the newborn screening results.

Finally, we saw Dr. S, who was pleased with Jacob’s progress so far. However, we will have to wait a few days for the results from the ammonia test and amino acid panel, which are the numbers that will tell us more definitively where Jacob stands metabolically. It is still too early to tell whether Jacob has a mild or moderate case. Dr. S feels fairly confident that his case is not severe, because he would already have experienced a metabolic decompensation. We do need to remember, however, that the first year is sometimes easier for a child with a urea cycle disorder. Dr. S called it the “honeymoon period.” They grow so rapidly that their bodies are using the proteins before they have a chance to become toxic. When Jacob’s growth rate slows, his tolerance for natural protein may diminish. In other words, this is not a predictable disorder. We are thankful that Jacob is healthy today, and we will leave tomorrow in God’s hands.

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