Geneticist Appointment

We went to see the geneticist today. We spoke to the fellow geneticist and then to a metabolic nutritionist. We are still awaiting DNA results to make a full diagnosis. With her blood ammonia levels and orotic levels in her urine, they are positive that she has OTC. The Buphenyl brought her blood ammonia levels back down to 32 and is maintaining that.

The metabolic nutritionist told us more about what she can and can not eat. She has to have 25 grams of protein a day. We can't give her too much at a time, because her body can't digest the protein all at once. So we have to split it up, 7 grams per meal, 2 per snack. It is a lot of planning and a lot of saying, "No I am sorry honey, but you can't eat that." Madison is learning how to eat and we are trying to figure out a balance of proteins and carbohydrates, since diabetes runs in our family.

We have been crushing up the Buphenyl for her 3 times a day. It smells nasty and tastes nasty. Unfortunately she will be taking Buphenyl for the rest of her life. Technology advances are being made every day, so hopefully researchers will find out more on how to treat it. The only way to get rid of it totally is a liver transplant. Since her OTC appears to be manageable, a liver transplant is out of the question (thank goodness!)

We were instructed on what signs to look for before an episode, they gave her an anti-nausea drug to have on hand if we need it and some amino acid formula when she gets a viral infection. This will help her body not break down proteins in her body, which produces too much ammonia.

We also asked about her later having children - they said she can chance it (50% chance to pass it to boys - which it is almost fatal), adoption, or selective IVF (in which they test the embryos to see if they are an OTC carrier before transplanting them into the uterus).

There is hope in all of this and I know that Heavenly Father will bless her as she learns to manage this.