Way back in July, we found out that Jax had elevated IRT levels as part of the typical newborn screening process. This elevated level is caused by a variety of things, including stressful birth (duh) and prematurity (duh), or it can be a sign that the baby has the genetic disease called Cystic Fibrosis. Cystic Fibrosis is “an inherited disease that affects the lungs and digestive system.” The disease affects people differently: some people with CF can live to be 30, some need lung transplants when they are 3 years old, some have asthma, some have no symptoms at all. While the disease is very serious, doctors told us not to worry. (Spoiler alert – the story has a good ending!)
Because of the elevated levels, doctors ordered a more specific DNA test to check for most common gene mutations that cause Cystic Fibrosis. The results of that test came back negative, but to be on the safe side, doctors ordered a full gene evaluation where they discovered that Jax does indeed have two rare gene mutations that can indicate Cystic Fibrosis. He got it from somewhere, so that means that either Steve, me, or both of us are carriers of the gene mutation. Steve and I both did a DNA to see where the mutations came from. It’s confusing, but if the mutation came from one of us that is good, but if it came from both of us, that could be bad.
We found out today that the gene mutations come only from me. This is good news – because now it is even more likely that Jax does not have the disease. (PSA: if you are related to me, you also have a chance of having this gene mutation. If you are considering having kids, you may want to consider getting the genetic testing done to make sure both parents do not have the mutations. If both parents have the mutation, children have a 25% chance of having the disease.)
Today, Jax went in for one final test to see if he has the disease. This “sweat test” is weird! They wiped Jax’s forearms with a special gel and then hooked him up to two electrodes that stimulate his sweat glands. Then they put on a “watch” that collected the sweat. Unfortunately Jax is still too small and they were not able to collect enough sweat to make a conclusion. However, since Jax has no problems eating, he’s gaining weight regularly (he weighs almost 11lbs already!) and he’s already off oxygen, doctors are very confident that he does not have the disease. We will redo the test the same day of his hernia surgery (January 15) to make 100% sure that he’s in the clear. But, all in all, we are 99% sure that we dodged yet another bullet! After almost 5 months of having this in the back of our minds all I can say is – Whew!
There is another preemie mom that has a great blog called Ain’t No Roller Coaster. Last week, she did a post called “Getting THE Diagnosis.” Talk about a timely post! I appreciated her insight and advice as we faced this diagnosis. Thankfully, for us, the news is good. Many preemies don’t get very much good news and are faced with hard diagnosis’ and long roads. We are grateful everyday for Jaxson’s positive progress and good news!
Unfortunately, during the sweat test, Jaxson was hurt by the lab tech. She squeezed his tiny hand a little too hard and now he has a bruise (the shape of a thumb print) and swollen fingers. We complained to a manager (of course, have you met me?) and the manager had the case elevated to the lead Family Liaison and Risk Management Department. The manager said “Oh my God! I can’t believe this!” They had a physician come and check him out to make sure there was not another reason why he would have the bruising (read: covering their asses), but the doc did not make sure he did not have any broken bones or sprains. The bruises and swelling keep getting worse. I think we will request some X-rays to be sure. Take a look at these pictures…What would you do in this situation?
I went today for a physical today. The doctor found something that she called fibrocystic lumps in my breasts. She says that it is very common, especially after pregnancy, but she ordered an ultrasound and mammogram tomorrow to screen for breast cancer. I’m sure it’s nothing, but, as you can imagine, anything having to do with breast cancer scares the shit out of me. I’d appreciate some extra positive thoughts tomorrow, please!
Wow – this is a pretty heavy post! Here’s something to lighten the load: