Here goes nothing...

I keep trying to figure out a way to start this blog.  I feel like this will be a great tool for me to share info and experiences with family and friends.  Let's face it, our lives are busy and I hate to admit it, but I am AWFUL at picking up the phone and chatting for a few minutes with those who matter most to me.  You all know me, I definitely love to talk and inevitably phone conversations when they do happen, end up being hour long sessions just to catch up. This way I can still tell you all what is going on without burning up the phone minutes.  LOL 
So, here is what we know so far about Cystic Fibrosis and our little guy. 
The gene mutation I carry is the Delta F508 and Chris carries the N1303K mutation.  Both of these mutations are listed as being in the top 40 most common mutations seen.  There are over 1500 different mutations though, so the combinations are endless and make it hard to really say exactly what problems CF patients will experience. 

Cystic fibrosis is an inherited chronic disease that affects the lungs and digestive system of about 30,000 children and adults in the United States (70,000 worldwide). A defective gene and its protein product cause the body to produce unusually thick, sticky mucus that:

• clogs the lungs and leads to life-threatening lung infections; and
• obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food.

In the 1950s, few children with cystic fibrosis lived to attend elementary school. Today, advances in research and medical treatments have further enhanced and extended life for children and adults with CF. Many people with the disease can now expect to live into their 30s, 40s and beyond.


Gotta love copy and paste.  :)  Early diagnosis and care is definitely going to be a benefit for us.  Nothing will change as far as the rest of the pregnancy other than maybe more ultrasounds closer to when he is due to arrive.  Let's just hope my blood pressure stays in check too.  They can watch for a "brightenend bowel" on ultrasound which could mean Christopher would be born with Meconium Ileus which is basically a bowel obstruction where he can't pass his poop.  This is something they find with about 20% of children born with CF, in fact that is sometimes how kids were first diagnosed after they have the surgery to correct the problem.  We will really be hoping for that nasty poop to come out after he is born, that will be a huge relief. 
I met yesterday with the Pulmonary Pediatric Dr. that will treat Christopher once he is here and I like her alot.  Dr. Dellon and I talked for probably close to an hour and a half and she gave me lots of info.  They gave me some reading material as well and a DVD in case I can't read I guess.  JK!!  Here is what she was able to tell me will happen for sure.  He will have to take his first trip to Chapel Hill within his first week here and then they will see him once a month for his first 6 months and if all is going well he will then go to every 3 months.  She did explain that immediately he will be put on enzymes to help him absorb the nutrients that would otherwise just pass right through him.  (Can't wait to change his diapers, lol)  He will also have to take liquid vitamins right from the beginning so he develops and grows properly.  Chris and I will have to learn how to do the respiratory therapies to help him clear the mucus that will stick in his lungs until he is old enough to cough it up himself.  Dr. Dellon also explained that most if not all males born with CF are not able to reproduce when they are adults.  But who knows what will be going on when that time comes.  It could be by the time he is an adult there might even be a cure. 
Really though, we won't know much until he gets here and can be evaluated.  I feel like January should be a long time from now, but in reality he will be here before we know it!  My next Dr's appointment is with the high-risk Dr. on November 1st for the next ultrasound.  So far my blood pressure has been good, they have asked that I keep track of it between appointments and no issues have come up yet. 

I hope everyone will understand my reasoning behind this blog.  I know how busy everyone's lives are and we just don't always connect at the right times.  Our families are stretched out now all over the place and where would we be without the internet?  :)