I posted lots of answers to various questions here. This is part 2. I'm sure there will be other parts as well. And there have been a lot of questions about breastmilk, breastfeeding, etc. that requires its own post. Also, an answer to the question "how are you holding up" will have to be a separate post. Any questions you'd like answered, please feel free to email them to me, or post them in the comments section.
Did you know anything was wrong during your pregnancy?
For those who are new here, I documented my pregnancy on this blog. Other than some heartburn and an episode of passing a kidney stone, I had a very smooth pregnancy. So incredibly smooth. I was on cloud nine and totally unaware that our lives would get flipped upside down when our lives should be the happiest, most exciting.
Would any testing have picked up the defect in utero?
The specific defect Luca has is called CPSI deficiency of the Urea Cycle. Experts estimate that this specific defect of the urea cycle occurs anywhere from 1 in 60,000 to 1 in 100,000 people. Genetic testing done in utero looks for the most common diseases and defects and most certainly would not have found this. In order to find it in utero, you'd have to be specifically looking for this defect. Her pediatrician said that if they were to add 100 diseases/disorders to prenatal testing, this still probably wouldn't be added because of its rarity. So yes and no - yes you can figure it out by looking specifically for this genetic defect, but no ordinary prenatal testing would have picked up on it.
How will a new liver help Luca/ How will Luca's life be post transplant?
A new liver that has the working enzyme to process protein will change L's life drastically. Her body will be able to process protein normally which means she'll have a normal diet. We won't have to watch every move and wonder whether that sneaky ammonia is rising in her body. As a reminder, Luca doesn't really ever feel hunger because of how frequently we feed her, and because of the defect itself. The hormone that sends the signal for hunger is located right next to where she's missing the enzyme to process protein - and often this hormone is messed up. A new liver will likely increase L's hunger drive. A new liver will also allow us to feed her less often, allowing her to feel hunger.
It is very difficult for parents with kids with this disorder. Imagine always needing to know what goes into your child's mouth. The times kids chew on crayons - did you know normal crayons have protein in them? Many parents have to order special protein-free crayons. And kids will be kids - they will eat something when you aren't looking, something that might contain protein. Imagine if L ate a scoop of peanut butter or a piece of chicken without us knowing. It could be deadly for her. It'll make life easier knowing that she can have a normal diet.
Did you take off from law school?
Yes! Once L was transferred to DC and we were told about how sick she really was, about predictions for how long she'd be hospitalized, and about how extensive her care would be after discharge, it was a no-brainer. I have taken a leave of absence and will hopefully go back to finish my last year either summer or fall of 2011. Only 21 more credits until I'm finished!
That crayons have protein in them is my new fact for the day. I think I'm going to use this one in conversation many times in the future. :)
ReplyDeleteOn a similar note, I work with a vegan, who keeps bringing weird things to eat to work and then offering them to me. And vegan food has extra protein to make up for the fact that they don't eat meat. Um, no. That *name whatever food* you are eating has more protein in it than I can eat in 2 days!